{"id":82731,"date":"2025-07-22T08:39:11","date_gmt":"2025-07-22T08:39:11","guid":{"rendered":"https:\/\/www.europesays.com\/us\/82731\/"},"modified":"2025-07-22T08:39:11","modified_gmt":"2025-07-22T08:39:11","slug":"molecular-genetics-of-j-domain-protein-related-chaperonopathies-in-skeletal-muscle","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/82731\/","title":{"rendered":"Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle"},"content":{"rendered":"<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"1.\">\n<p class=\"c-article-references__text\" id=\"ref-CR1\">Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure of J-domain proteins. Cell Stress Chaperones. 2019;24:7\u201315.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=30478692\" aria-label=\"PubMed reference 1\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 1\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Function%2C%20evolution%2C%20and%20structure%20of%20J-domain%20proteins&amp;journal=Cell%20Stress%20Chaperones&amp;volume=24&amp;pages=7-15&amp;publication_year=2019&amp;author=Kampinga%2CHH&amp;author=Andreasson%2CC&amp;author=Barducci%2CA&amp;author=Cheetham%2CME&amp;author=Cyr%2CD&amp;author=Emanuelsson%2CC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"2.\">\n<p class=\"c-article-references__text\" id=\"ref-CR2\">Sarparanta J, Jonson PH, Kawan S, Udd B. Neuromuscular diseases due to chaperone mutations: a review and some new results. Int J Mol Sci. 2020;21:1409.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3cXhslyrsbfO\" aria-label=\"CAS reference 2\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=32093037\" aria-label=\"PubMed reference 2\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7073051\" aria-label=\"PubMed Central reference 2\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 2\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Neuromuscular%20diseases%20due%20to%20chaperone%20mutations%3A%20a%20review%20and%20some%20new%20results&amp;journal=Int%20J%20Mol%20Sci&amp;volume=21&amp;publication_year=2020&amp;author=Sarparanta%2CJ&amp;author=Jonson%2CPH&amp;author=Kawan%2CS&amp;author=Udd%2CB\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"3.\">\n<p class=\"c-article-references__text\" id=\"ref-CR3\">H\u00f6hfeld J, Benzing T, Bloch W, F\u00fcrst DO, Gehlert S, Hesse M, et al. Maintaining proteostasis under mechanical stress. EMBO Rep. 2021;22:EMBR202152507.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 3\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Maintaining%20proteostasis%20under%20mechanical%20stress&amp;journal=EMBO%20Rep&amp;volume=22&amp;publication_year=2021&amp;author=H%C3%B6hfeld%2CJ&amp;author=Benzing%2CT&amp;author=Bloch%2CW&amp;author=F%C3%BCrst%2CDO&amp;author=Gehlert%2CS&amp;author=Hesse%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"4.\">\n<p class=\"c-article-references__text\" id=\"ref-CR4\">Acquarone D, Bertero A, Brancaccio M, Sorge M. Chaperone proteins: the rising players in muscle atrophy. J Cachexia Sarcopenia Muscle. 2025;16:13659.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 4\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Chaperone%20proteins%3A%20the%20rising%20players%20in%20muscle%20atrophy&amp;journal=J%20Cachexia%20Sarcopenia%20Muscle&amp;volume=16&amp;publication_year=2025&amp;author=Acquarone%2CD&amp;author=Bertero%2CA&amp;author=Brancaccio%2CM&amp;author=Sorge%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"5.\">\n<p class=\"c-article-references__text\" id=\"ref-CR5\">Bell RAV, Al-Khalaf M, Megeney LA. The beneficial role of proteolysis in skeletal muscle growth and stress adaptation. Skelet Muscle. 2016;6:16.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=27054028\" aria-label=\"PubMed reference 5\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4822268\" aria-label=\"PubMed Central reference 5\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 5\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20beneficial%20role%20of%20proteolysis%20in%20skeletal%20muscle%20growth%20and%20stress%20adaptation&amp;journal=Skelet%20Muscle&amp;volume=6&amp;publication_year=2016&amp;author=Bell%2CRAV&amp;author=Al-Khalaf%2CM&amp;author=Megeney%2CLA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"6.\">\n<p class=\"c-article-references__text\" id=\"ref-CR6\">Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, et al. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol. 2012;71:407\u201316.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC38XksFaju7c%3D\" aria-label=\"CAS reference 6\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=22334415\" aria-label=\"PubMed reference 6\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3314127\" aria-label=\"PubMed Central reference 6\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 6\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Exome%20sequencing%20reveals%20DNAJB6%20mutations%20in%20dominantly-inherited%20myopathy&amp;journal=Ann%20Neurol&amp;volume=71&amp;pages=407-16&amp;publication_year=2012&amp;author=Harms%2CMB&amp;author=Sommerville%2CRB&amp;author=Allred%2CP&amp;author=Bell%2CS&amp;author=Ma%2CD&amp;author=Cooper%2CP\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"7.\">\n<p class=\"c-article-references__text\" id=\"ref-CR7\">Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet. 2012;44:450\u20135.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC38Xislygtb8%3D\" aria-label=\"CAS reference 7\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=22366786\" aria-label=\"PubMed reference 7\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3315599\" aria-label=\"PubMed Central reference 7\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 7\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Mutations%20affecting%20the%20cytoplasmic%20functions%20of%20the%20co-chaperone%20DNAJB6%20cause%20limb-girdle%20muscular%20dystrophy&amp;journal=Nat%20Genet&amp;volume=44&amp;pages=450-5&amp;publication_year=2012&amp;author=Sarparanta%2CJ&amp;author=Jonson%2CPH&amp;author=Golzio%2CC&amp;author=Sandell%2CS&amp;author=Luque%2CH&amp;author=Screen%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"8.\">\n<p class=\"c-article-references__text\" id=\"ref-CR8\">Weihl CC, Udd B, Hanna M, ENMC Workshop Study Group. 234th ENMC International Workshop: chaperone dysfunction in muscle disease Naarden, The Netherlands, 8\u201310 December 2017. Neuromuscul Disord. 2018;28:1022\u201330.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=30424919\" aria-label=\"PubMed reference 8\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6515901\" aria-label=\"PubMed Central reference 8\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 8\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=234th%20ENMC%20International%20Workshop%3A%20chaperone%20dysfunction%20in%20muscle%20disease%20Naarden%2C%20The%20Netherlands%2C%208%E2%80%9310%20December%202017&amp;journal=Neuromuscul%20Disord&amp;volume=28&amp;pages=1022-30&amp;publication_year=2018&amp;author=Weihl%2CCC&amp;author=Udd%2CB&amp;author=Hanna%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"9.\">\n<p class=\"c-article-references__text\" id=\"ref-CR9\">Rosenzweig R, Nillegoda NB, Mayer MP, Bukau B. The Hsp70 chaperone network. Nat Rev Mol Cell Biol. 2019;20:665\u201380.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1MXht1yktL7O\" aria-label=\"CAS reference 9\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31253954\" aria-label=\"PubMed reference 9\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 9\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20Hsp70%20chaperone%20network&amp;journal=Nat%20Rev%20Mol%20Cell%20Biol&amp;volume=20&amp;pages=665-80&amp;publication_year=2019&amp;author=Rosenzweig%2CR&amp;author=Nillegoda%2CNB&amp;author=Mayer%2CMP&amp;author=Bukau%2CB\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"10.\">\n<p class=\"c-article-references__text\" id=\"ref-CR10\">Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, et al. Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Rep. 2015;12:1169\u201383.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2MXhtlSju7bM\" aria-label=\"CAS reference 10\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=26257172\" aria-label=\"PubMed reference 10\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4545408\" aria-label=\"PubMed Central reference 10\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 10\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Exome%20sequence%20analysis%20suggests%20that%20genetic%20burden%20contributes%20to%20phenotypic%20variability%20and%20complex%20neuropathy&amp;journal=Cell%20Rep&amp;volume=12&amp;pages=1169-83&amp;publication_year=2015&amp;author=Gonzaga-Jauregui%2CC&amp;author=Harel%2CT&amp;author=Gambin%2CT&amp;author=Kousi%2CM&amp;author=Griffin%2CLB&amp;author=Francescatto%2CL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"11.\">\n<p class=\"c-article-references__text\" id=\"ref-CR11\">Ruggieri A, Brancati F, Zanotti S, Maggi L, Pasanisi MB, Saredi S, et al. Complete loss of the DNAJB6 G\/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy. Acta Neuropathol Commun. 2015;3:44.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=26205529\" aria-label=\"PubMed reference 11\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4513909\" aria-label=\"PubMed Central reference 11\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 11\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Complete%20loss%20of%20the%20DNAJB6%20G%2FF%20domain%20and%20novel%20missense%20mutations%20cause%20distal-onset%20DNAJB6%20myopathy&amp;journal=Acta%20Neuropathol%20Commun&amp;volume=3&amp;publication_year=2015&amp;author=Ruggieri%2CA&amp;author=Brancati%2CF&amp;author=Zanotti%2CS&amp;author=Maggi%2CL&amp;author=Pasanisi%2CMB&amp;author=Saredi%2CS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"12.\">\n<p class=\"c-article-references__text\" id=\"ref-CR12\">Ruggieri A, Saredi S, Zanotti S, Pasanisi MB, Maggi L, Mora M. DNAJB6 myopathies: focused review on an emerging and expanding group of myopathies. Front Mol Biosci. 2016;3:63.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=27747217\" aria-label=\"PubMed reference 12\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5043021\" aria-label=\"PubMed Central reference 12\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 12\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=DNAJB6%20myopathies%3A%20focused%20review%20on%20an%20emerging%20and%20expanding%20group%20of%20myopathies&amp;journal=Front%20Mol%20Biosci&amp;volume=3&amp;publication_year=2016&amp;author=Ruggieri%2CA&amp;author=Saredi%2CS&amp;author=Zanotti%2CS&amp;author=Pasanisi%2CMB&amp;author=Maggi%2CL&amp;author=Mora%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"13.\">\n<p class=\"c-article-references__text\" id=\"ref-CR13\">Sato T, Hayashi YK, Oya Y, Kondo T, Sugie K, Kaneda D, et al. DNAJB6 myopathy in an Asian cohort and cytoplasmic\/nuclear inclusions. Neuromuscul Disord. 2013;23:269\u201376.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=23394708\" aria-label=\"PubMed reference 13\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 13\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=DNAJB6%20myopathy%20in%20an%20Asian%20cohort%20and%20cytoplasmic%2Fnuclear%20inclusions&amp;journal=Neuromuscul%20Disord&amp;volume=23&amp;pages=269-76&amp;publication_year=2013&amp;author=Sato%2CT&amp;author=Hayashi%2CYK&amp;author=Oya%2CY&amp;author=Kondo%2CT&amp;author=Sugie%2CK&amp;author=Kaneda%2CD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"14.\">\n<p class=\"c-article-references__text\" id=\"ref-CR14\">Nam TS, Li W, Heo SH, Lee KH, Cho A, Shin JH, et al. A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype. Neuromuscul Disord. 2015;25:843\u201351.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=26371419\" aria-label=\"PubMed reference 14\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 14\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20novel%20mutation%20in%20DNAJB6%2C%20p.%28Phe91Leu%29%2C%20in%20childhood-onset%20LGMD1D%20with%20a%20severe%20phenotype&amp;journal=Neuromuscul%20Disord&amp;volume=25&amp;pages=843-51&amp;publication_year=2015&amp;author=Nam%2CTS&amp;author=Li%2CW&amp;author=Heo%2CSH&amp;author=Lee%2CKH&amp;author=Cho%2CA&amp;author=Shin%2CJH\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"15.\">\n<p class=\"c-article-references__text\" id=\"ref-CR15\">Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, et al. Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. Ann Clin Transl Neurol. 2018;5:1574\u201387.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1cXisF2iurfE\" aria-label=\"CAS reference 15\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=30564623\" aria-label=\"PubMed reference 15\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6292381\" aria-label=\"PubMed Central reference 15\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 15\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genetic%20landscape%20and%20novel%20disease%20mechanisms%20from%20a%20large%20LGMD%20cohort%20of%204656%20patients&amp;journal=Ann%20Clin%20Transl%20Neurol&amp;volume=5&amp;pages=1574-87&amp;publication_year=2018&amp;author=Nallamilli%2CBRR&amp;author=Chakravorty%2CS&amp;author=Kesari%2CA&amp;author=Tanner%2CA&amp;author=Ankala%2CA&amp;author=Schneider%2CT\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"16.\">\n<p class=\"c-article-references__text\" id=\"ref-CR16\">Jonson PH, Palmio J, Johari M, Penttil\u00e4 S, Evil\u00e4 A, Nelson I, et al. Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. Eur J Neurol. 2018;25:790\u20134.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:STN:280:DC%2BC1MrhtVSquw%3D%3D\" aria-label=\"CAS reference 16\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=29437287\" aria-label=\"PubMed reference 16\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 16\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Novel%20mutations%20in%20DNAJB6%20cause%20LGMD1D%20and%20distal%20myopathy%20in%20French%20families&amp;journal=Eur%20J%20Neurol&amp;volume=25&amp;pages=790-4&amp;publication_year=2018&amp;author=Jonson%2CPH&amp;author=Palmio%2CJ&amp;author=Johari%2CM&amp;author=Penttil%C3%A4%2CS&amp;author=Evil%C3%A4%2CA&amp;author=Nelson%2CI\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"17.\">\n<p class=\"c-article-references__text\" id=\"ref-CR17\">Ji G, Wang N, Han X, Wang Y, Zhang J, Wu Y, et al. Case Report: A novel splice-site mutation in DNAJB6 associated with juvenile-onset proximal\u2013distal myopathy in a Chinese patient. Front Genet. 2022;13:925926.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=35812750\" aria-label=\"PubMed reference 17\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC9259785\" aria-label=\"PubMed Central reference 17\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 17\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Case%20Report%3A%20A%20novel%20splice-site%20mutation%20in%20DNAJB6%20associated%20with%20juvenile-onset%20proximal%E2%80%93distal%20myopathy%20in%20a%20Chinese%20patient&amp;journal=Front%20Genet&amp;volume=13&amp;publication_year=2022&amp;author=Ji%2CG&amp;author=Wang%2CN&amp;author=Han%2CX&amp;author=Wang%2CY&amp;author=Zhang%2CJ&amp;author=Wu%2CY\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"18.\">\n<p class=\"c-article-references__text\" id=\"ref-CR18\">Wang Q, Sun P, Yu M, Xie Z, Yu J, Liu X, et al. Mutational and clinical spectrum of myofibrillar myopathy in one center from China. J Neuromuscul Dis. 2024;11:1247\u201359.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=39973468\" aria-label=\"PubMed reference 18\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 18\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Mutational%20and%20clinical%20spectrum%20of%20myofibrillar%20myopathy%20in%20one%20center%20from%20China&amp;journal=J%20Neuromuscul%20Dis&amp;volume=11&amp;pages=1247-59&amp;publication_year=2024&amp;author=Wang%2CQ&amp;author=Sun%2CP&amp;author=Yu%2CM&amp;author=Xie%2CZ&amp;author=Yu%2CJ&amp;author=Liu%2CX\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"19.\">\n<p class=\"c-article-references__text\" id=\"ref-CR19\">Palmio J, Jonson PH, Inoue M, Sarparanta J, Bengoechea R, Savarese M, et al. Mutations in the J domain of DNAJB6 cause dominant distal myopathy. Neuromuscul Disord. 2020;30:38\u201346.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31955980\" aria-label=\"PubMed reference 19\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 19\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Mutations%20in%20the%20J%20domain%20of%20DNAJB6%20cause%20dominant%20distal%20myopathy&amp;journal=Neuromuscul%20Disord&amp;volume=30&amp;pages=38-46&amp;publication_year=2020&amp;author=Palmio%2CJ&amp;author=Jonson%2CPH&amp;author=Inoue%2CM&amp;author=Sarparanta%2CJ&amp;author=Bengoechea%2CR&amp;author=Savarese%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"20.\">\n<p class=\"c-article-references__text\" id=\"ref-CR20\">Qian F-Y, Guo YD, Zu J, Zhang JH, Zheng YM, Abdoulaye IA, et al. A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy. Acta Neuropathol Commun. 2021;9:23.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXkvVamsb8%3D\" aria-label=\"CAS reference 20\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33557929\" aria-label=\"PubMed reference 20\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7869515\" aria-label=\"PubMed Central reference 20\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 20\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20novel%20recessive%20mutation%20affecting%20DNAJB6a%20causes%20myofibrillar%20myopathy&amp;journal=Acta%20Neuropathol%20Commun&amp;volume=9&amp;publication_year=2021&amp;author=Qian%2CF-Y&amp;author=Guo%2CYD&amp;author=Zu%2CJ&amp;author=Zhang%2CJH&amp;author=Zheng%2CYM&amp;author=Abdoulaye%2CIA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"21.\">\n<p class=\"c-article-references__text\" id=\"ref-CR21\">Findlay AR, Robinson SE, Poelker S, Seiffert M, Bengoechea R, Weihl CC. LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials. Ann Clin Transl Neurol. 2022;10:181\u201394.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=36427278\" aria-label=\"PubMed reference 21\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC9930420\" aria-label=\"PubMed Central reference 21\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 21\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=LGMDD1%20natural%20history%20and%20phenotypic%20spectrum%3A%20Implications%20for%20clinical%20trials&amp;journal=Ann%20Clin%20Transl%20Neurol&amp;volume=10&amp;pages=181-94&amp;publication_year=2022&amp;author=Findlay%2CAR&amp;author=Robinson%2CSE&amp;author=Poelker%2CS&amp;author=Seiffert%2CM&amp;author=Bengoechea%2CR&amp;author=Weihl%2CCC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"22.\">\n<p class=\"c-article-references__text\" id=\"ref-CR22\">Sandell S, Huovinen S, Palmio J, Raheem O, Lindfors M, Zhao F, et al. Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D. Acta Neuropathol Commun. 2016;4:9.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=26847086\" aria-label=\"PubMed reference 22\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4743201\" aria-label=\"PubMed Central reference 22\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 22\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Diagnostically%20important%20muscle%20pathology%20in%20DNAJB6%20mutated%20LGMD1D&amp;journal=Acta%20Neuropathol%20Commun&amp;volume=4&amp;publication_year=2016&amp;author=Sandell%2CS&amp;author=Huovinen%2CS&amp;author=Palmio%2CJ&amp;author=Raheem%2CO&amp;author=Lindfors%2CM&amp;author=Zhao%2CF\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"23.\">\n<p class=\"c-article-references__text\" id=\"ref-CR23\">Weihl CC, T\u00f6pf A, Bengoechea R, Duff J, Charlton R, Garcia SK, et al. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure. Acta Neuropathol. 2023;145:127\u201343.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB38XislansLvK\" aria-label=\"CAS reference 23\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=36264506\" aria-label=\"PubMed reference 23\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 23\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Loss%20of%20function%20variants%20in%20DNAJB4%20cause%20a%20myopathy%20with%20early%20respiratory%20failure&amp;journal=Acta%20Neuropathol&amp;volume=145&amp;pages=127-43&amp;publication_year=2023&amp;author=Weihl%2CCC&amp;author=T%C3%B6pf%2CA&amp;author=Bengoechea%2CR&amp;author=Duff%2CJ&amp;author=Charlton%2CR&amp;author=Garcia%2CSK\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"24.\">\n<p class=\"c-article-references__text\" id=\"ref-CR24\">Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti CA, Aldeeri AA, et al. Genotype\u2012phenotype correlation in recessive DNAJB4 myopathy. Acta Neuropathol Commun. 2024;12:171.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXitlKgsb3M\" aria-label=\"CAS reference 24\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=39468638\" aria-label=\"PubMed reference 24\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC11514740\" aria-label=\"PubMed Central reference 24\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 24\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genotype%E2%80%92phenotype%20correlation%20in%20recessive%20DNAJB4%20myopathy&amp;journal=Acta%20Neuropathol%20Commun&amp;volume=12&amp;publication_year=2024&amp;author=Inoue%2CM&amp;author=Jayaraman%2CD&amp;author=Bengoechea%2CR&amp;author=Bhadra%2CA&amp;author=Genetti%2CCA&amp;author=Aldeeri%2CAA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"25.\">\n<p class=\"c-article-references__text\" id=\"ref-CR25\">Inoue M, Noguchi S, Inoue YU, Iida A, Ogawa M, Bengoechea R, et al. Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4. Acta Neuropathol. 2022;145:235\u201355.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=36512060\" aria-label=\"PubMed reference 25\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 25\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Distinctive%20chaperonopathy%20in%20skeletal%20muscle%20associated%20with%20the%20dominant%20variant%20in%20DNAJB4&amp;journal=Acta%20Neuropathol&amp;volume=145&amp;pages=235-55&amp;publication_year=2022&amp;author=Inoue%2CM&amp;author=Noguchi%2CS&amp;author=Inoue%2CYU&amp;author=Iida%2CA&amp;author=Ogawa%2CM&amp;author=Bengoechea%2CR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"26.\">\n<p class=\"c-article-references__text\" id=\"ref-CR26\">Liu M, Xu Y, Hong D, Cong L, Fan Y, Zhang J. DNAJB2 c.184C&gt;T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy. Clin Neuropathol. 2022;41:226\u201332.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=35652544\" aria-label=\"PubMed reference 26\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 26\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=DNAJB2%20c.184C%3ET%20mutation%20associated%20with%20distal%20hereditary%20motor%20neuropathy%20with%20rimmed%20vacuolar%20myopathy&amp;journal=Clin%20Neuropathol&amp;volume=41&amp;pages=226-32&amp;publication_year=2022&amp;author=Liu%2CM&amp;author=Xu%2CY&amp;author=Hong%2CD&amp;author=Cong%2CL&amp;author=Fan%2CY&amp;author=Zhang%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"27.\">\n<p class=\"c-article-references__text\" id=\"ref-CR27\">Sarparanta J, Jonson PH, Reimann J, Vihola A, Luque H, Penttil\u00e4 S, et al. Extension of the DNAJB2a isoform in a dominant neuromyopathy family. Hum Mol Genet. 2023;32:3029\u201339.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXis1ehu7c%3D\" aria-label=\"CAS reference 27\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37070754\" aria-label=\"PubMed reference 27\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10586202\" aria-label=\"PubMed Central reference 27\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 27\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Extension%20of%20the%20DNAJB2a%20isoform%20in%20a%20dominant%20neuromyopathy%20family&amp;journal=Hum%20Mol%20Genet&amp;volume=32&amp;pages=3029-39&amp;publication_year=2023&amp;author=Sarparanta%2CJ&amp;author=Jonson%2CPH&amp;author=Reimann%2CJ&amp;author=Vihola%2CA&amp;author=Luque%2CH&amp;author=Penttil%C3%A4%2CS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"28.\">\n<p class=\"c-article-references__text\" id=\"ref-CR28\">Abayev-Avraham M, Salzberg Y, Gliksberg D, Oren-Suissa M, Rosenzweig R. DNAJB6 mutants display toxic gain of function through unregulated interaction with Hsp70 chaperones. Nat Commun. 2023;14:7066.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXit12js7%2FK\" aria-label=\"CAS reference 28\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37923706\" aria-label=\"PubMed reference 28\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10624832\" aria-label=\"PubMed Central reference 28\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 28\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=DNAJB6%20mutants%20display%20toxic%20gain%20of%20function%20through%20unregulated%20interaction%20with%20Hsp70%20chaperones&amp;journal=Nat%20Commun&amp;volume=14&amp;publication_year=2023&amp;author=Abayev-Avraham%2CM&amp;author=Salzberg%2CY&amp;author=Gliksberg%2CD&amp;author=Oren-Suissa%2CM&amp;author=Rosenzweig%2CR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"29.\">\n<p class=\"c-article-references__text\" id=\"ref-CR29\">Stein KC, Bengoechea R, Harms MB, Weihl CC, True HL. Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers*. J Biol Chem. 2014;289:21120\u201330.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2cXht1SksbzL\" aria-label=\"CAS reference 29\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=24920671\" aria-label=\"PubMed reference 29\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4110315\" aria-label=\"PubMed Central reference 29\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 29\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Myopathy-causing%20mutations%20in%20an%20HSP40%20chaperone%20disrupt%20processing%20of%20specific%20client%20conformers%2A&amp;journal=J%20Biol%20Chem&amp;volume=289&amp;pages=21120-30&amp;publication_year=2014&amp;author=Stein%2CKC&amp;author=Bengoechea%2CR&amp;author=Harms%2CMB&amp;author=Weihl%2CCC&amp;author=True%2CHL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"30.\">\n<p class=\"c-article-references__text\" id=\"ref-CR30\">Bhadra AK, Rau MJ, Daw JA, Fitzpatrick JAJ, Weihl CC, True HL. Disease-associated mutations within the yeast DNAJB6 homolog Sis1 slow conformer-specific substrate processing and can be corrected by the modulation of nucleotide exchange factors. Nat Commun. 2022;13:4570.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41467-022-32318-9\" data-track-item_id=\"10.1038\/s41467-022-32318-9\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41467-022-32318-9\" aria-label=\"Article reference 30\" data-doi=\"10.1038\/s41467-022-32318-9\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB38XitFWlsrfL\" aria-label=\"CAS reference 30\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=35931773\" aria-label=\"PubMed reference 30\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC9355953\" aria-label=\"PubMed Central reference 30\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 30\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Disease-associated%20mutations%20within%20the%20yeast%20DNAJB6%20homolog%20Sis1%20slow%20conformer-specific%20substrate%20processing%20and%20can%20be%20corrected%20by%20the%20modulation%20of%20nucleotide%20exchange%20factors&amp;journal=Nat%20Commun&amp;doi=10.1038%2Fs41467-022-32318-9&amp;volume=13&amp;publication_year=2022&amp;author=Bhadra%2CAK&amp;author=Rau%2CMJ&amp;author=Daw%2CJA&amp;author=Fitzpatrick%2CJAJ&amp;author=Weihl%2CCC&amp;author=True%2CHL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"31.\">\n<p class=\"c-article-references__text\" id=\"ref-CR31\">Bengoechea R, Findlay AR, Bhadra AK, Shao H, Stein KC, Pittman SK, et al. Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy. J Clin Investig. 2020;130:4470\u201385.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3cXhsFGqtbzE\" aria-label=\"CAS reference 31\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=32427588\" aria-label=\"PubMed reference 31\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7410071\" aria-label=\"PubMed Central reference 31\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 31\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Inhibition%20of%20DNAJ-HSP70%20interaction%20improves%20strength%20in%20muscular%20dystrophy&amp;journal=J%20Clin%20Investig&amp;volume=130&amp;pages=4470-85&amp;publication_year=2020&amp;author=Bengoechea%2CR&amp;author=Findlay%2CAR&amp;author=Bhadra%2CAK&amp;author=Shao%2CH&amp;author=Stein%2CKC&amp;author=Pittman%2CSK\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"32.\">\n<p class=\"c-article-references__text\" id=\"ref-CR32\">Arndt V, Dick N, Tawo R, Dreiseidler M, Wenzel D, Hesse M, et al. Chaperone-assisted selective autophagy is essential for muscle maintenance. Curr Biol. 2010;20:143\u20138.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC3cXhtVegtr0%3D\" aria-label=\"CAS reference 32\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=20060297\" aria-label=\"PubMed reference 32\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 32\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Chaperone-assisted%20selective%20autophagy%20is%20essential%20for%20muscle%20maintenance&amp;journal=Curr%20Biol&amp;volume=20&amp;pages=143-8&amp;publication_year=2010&amp;author=Arndt%2CV&amp;author=Dick%2CN&amp;author=Tawo%2CR&amp;author=Dreiseidler%2CM&amp;author=Wenzel%2CD&amp;author=Hesse%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"33.\">\n<p class=\"c-article-references__text\" id=\"ref-CR33\">Findlay AR, Paing MM, Daw JA, Haller M, Bengoechea R, Pittman SK, et al. DNAJB6 isoform specific knockdown: therapeutic potential for limb girdle muscular dystrophy D1. Mol Ther Nucleic Acids. 2023;32:937\u201348.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXhtFensrfK\" aria-label=\"CAS reference 33\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37346979\" aria-label=\"PubMed reference 33\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10280091\" aria-label=\"PubMed Central reference 33\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 33\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=DNAJB6%20isoform%20specific%20knockdown%3A%20therapeutic%20potential%20for%20limb%20girdle%20muscular%20dystrophy%20D1&amp;journal=Mol%20Ther%20Nucleic%20Acids&amp;volume=32&amp;pages=937-48&amp;publication_year=2023&amp;author=Findlay%2CAR&amp;author=Paing%2CMM&amp;author=Daw%2CJA&amp;author=Haller%2CM&amp;author=Bengoechea%2CR&amp;author=Pittman%2CSK\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"34.\">\n<p class=\"c-article-references__text\" id=\"ref-CR34\">Bengoechea R, Pittman SK, Tuck EP, True HL, Weihl CC. Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D. Hum Mol Genet. 2015;24:6588\u2013602.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC28XmvFGju7s%3D\" aria-label=\"CAS reference 34\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=26362252\" aria-label=\"PubMed reference 34\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4634370\" aria-label=\"PubMed Central reference 34\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 34\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Myofibrillar%20disruption%20and%20RNA-binding%20protein%20aggregation%20in%20a%20mouse%20model%20of%20limb-girdle%20muscular%20dystrophy%201D&amp;journal=Hum%20Mol%20Genet&amp;volume=24&amp;pages=6588-602&amp;publication_year=2015&amp;author=Bengoechea%2CR&amp;author=Pittman%2CSK&amp;author=Tuck%2CEP&amp;author=True%2CHL&amp;author=Weihl%2CCC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"35.\">\n<p class=\"c-article-references__text\" id=\"ref-CR35\">Machado PM, McDermott MP, Blaettler T, Sundgreen C, Amato AA, Ciafaloni E, et al. Safety and efficacy of arimoclomol for inclusion body myositis: a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2023;22:900\u201311.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXhvFyns7nN\" aria-label=\"CAS reference 35\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37739573\" aria-label=\"PubMed reference 35\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 35\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Safety%20and%20efficacy%20of%20arimoclomol%20for%20inclusion%20body%20myositis%3A%20a%20multicentre%2C%20randomised%2C%20double-blind%2C%20placebo-controlled%20trial&amp;journal=Lancet%20Neurol&amp;volume=22&amp;pages=900-11&amp;publication_year=2023&amp;author=Machado%2CPM&amp;author=McDermott%2CMP&amp;author=Blaettler%2CT&amp;author=Sundgreen%2CC&amp;author=Amato%2CAA&amp;author=Ciafaloni%2CE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"36.\">\n<p class=\"c-article-references__text\" id=\"ref-CR36\">Findlay AR. Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches. Dis Model Mech. 2024;17:dmm050720.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2MXlvVKgsbo%3D\" aria-label=\"CAS reference 36\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=39501809\" aria-label=\"PubMed reference 36\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC11574355\" aria-label=\"PubMed Central reference 36\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 36\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Dominantly%20inherited%20muscle%20disorders%3A%20understanding%20their%20complexity%20and%20exploring%20therapeutic%20approaches&amp;journal=Dis%20Model%20Mech&amp;volume=17&amp;publication_year=2024&amp;author=Findlay%2CAR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"37.\">\n<p class=\"c-article-references__text\" id=\"ref-CR37\">Inoue M, Weihl CC. Myofibrillar myopathy: towards a mechanism-based definition as a Z-disk-opathy. Curr Opin Neurol. 2025; <a href=\"https:\/\/doi.org\/10.1097\/wco.0000000000001397\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1097\/wco.0000000000001397\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1097\/wco.0000000000001397<\/a>.<\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"38.\">\n<p class=\"c-article-references__text\" id=\"ref-CR38\">Liu J, Wallace LM, Garwick-Coppens SE, Sloboda DD, Davis CS, Hakim CH, et al. RNAi-mediated gene silencing of mutant myotilin improves myopathy in LGMD1A mice. Mol Ther Nucleic Acids. 2014;3:e160.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=24781192\" aria-label=\"PubMed reference 38\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4013433\" aria-label=\"PubMed Central reference 38\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 38\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=RNAi-mediated%20gene%20silencing%20of%20mutant%20myotilin%20improves%20myopathy%20in%20LGMD1A%20mice&amp;journal=Mol%20Ther%20Nucleic%20Acids&amp;volume=3&amp;publication_year=2014&amp;author=Liu%2CJ&amp;author=Wallace%2CLM&amp;author=Garwick-Coppens%2CSE&amp;author=Sloboda%2CDD&amp;author=Davis%2CCS&amp;author=Hakim%2CCH\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"39.\">\n<p class=\"c-article-references__text\" id=\"ref-CR39\">Bartoszewski R, Sikorski AF. Editorial focus: understanding off-target effects as the key to successful RNAi therapy. Cell Mol Biol Lett. 2019;24:69.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1MXisV2ks73L\" aria-label=\"CAS reference 39\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31867046\" aria-label=\"PubMed reference 39\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6902517\" aria-label=\"PubMed Central reference 39\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 39\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Editorial%20focus%3A%20understanding%20off-target%20effects%20as%20the%20key%20to%20successful%20RNAi%20therapy&amp;journal=Cell%20Mol%20Biol%20Lett&amp;volume=24&amp;publication_year=2019&amp;author=Bartoszewski%2CR&amp;author=Sikorski%2CAF\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"40.\">\n<p class=\"c-article-references__text\" id=\"ref-CR40\">Crudele JM, Chamberlain JS. AAV-based gene therapies for the muscular dystrophies. Hum Mol Genet. 2019;28:R102\u20137.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3cXhtVSmurjF\" aria-label=\"CAS reference 40\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31238336\" aria-label=\"PubMed reference 40\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6796995\" aria-label=\"PubMed Central reference 40\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 40\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=AAV-based%20gene%20therapies%20for%20the%20muscular%20dystrophies&amp;journal=Hum%20Mol%20Genet&amp;volume=28&amp;pages=R102-7&amp;publication_year=2019&amp;author=Crudele%2CJM&amp;author=Chamberlain%2CJS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n","protected":false},"excerpt":{"rendered":"Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure&hellip;\n","protected":false},"author":3,"featured_media":82732,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[23455,18532,21938,14491,815,15577,913,28535,159,67,132,68],"class_list":{"0":"post-82731","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-disease-genetics","9":"tag-gene-expression","10":"tag-gene-function","11":"tag-gene-therapy","12":"tag-genetics","13":"tag-human-genetics","14":"tag-molecular-medicine","15":"tag-neuromuscular-disease","16":"tag-science","17":"tag-united-states","18":"tag-unitedstates","19":"tag-us"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/114895989146417977","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/82731","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=82731"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/82731\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/82732"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=82731"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=82731"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=82731"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}