{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:35:54Z","timestamp":1791250554312,"version":"4.1.0"},"reference-count":64,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,8,18]],"date-time":"2016-08-18T00:00:00Z","timestamp":1471478400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Myoclonus\u2010dystonia is a neurogenic movement disorder caused by mutations in the gene encoding \u025b\u2010sarcoglycan. By contrast, mutations in the \u03b1\u2010, \u03b2\u2010, \u03b3\u2010, and \u03b4\u2010sarcoglycan genes cause limb girdle muscular dystrophies. The sarcoglycans are part of the dystrophin\u2010associated protein complex in muscle that is disrupted in several types of muscular dystrophy. Intriguingly, patients with myoclonus\u2010dystonia have no muscle pathology; conversely, limb\u2010girdle muscular dystrophy patients have not been reported to have dystonia\u2010associated features. To gain further insight into the molecular mechanisms underlying these differences, we searched for evidence of a sarcoglycan complex in the brain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Immunoaffinity chromatography and mass spectrometry were used to purify ubiquitous and brain\u2010specific \u025b\u2010sarcoglycan directly from tissue. Cell models were used to determine the effect of mutations on the trafficking and assembly of the brain sarcoglycan complex.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Ubiquitous and brain\u2010specific \u025b\u2010sarcoglycan isoforms copurify with \u03b2\u2010, \u03b4\u2010, and \u03b6\u2010sarcoglycan, \u03b2\u2010dystroglycan, and dystrophin Dp71 from brain. Incorporation of a muscular dystrophy\u2010associated \u03b2\u2010sarcoglycan mutant into the brain sarcoglycan complex impairs the formation of the \u03b2\u03b4\u2010sarcoglycan core but fails to abrogate the association and membrane trafficking of \u025b\u2010 and \u03b6\u2010sarcoglycan.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>\u025b\u2010Sarcoglycan is part of the dystrophin\u2010associated protein complex in brain. Partial preservation of \u025b\u2010 and \u03b6\u2010sarcoglycan in brain may explain the absence of myoclonus dystonia\u2010like features in muscular dystrophy patients. \u00a9 2016 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.26738","type":"journal-article","created":{"date-parts":[[2016,8,18]],"date-time":"2016-08-18T02:23:07Z","timestamp":1471486987000},"page":"1694-1703","source":"Crossref","is-referenced-by-count":36,"title":["Myoclonus dystonia and muscular dystrophy: \u025b\u2010sarcoglycan is part of the dystrophin\u2010associated protein complex in brain"],"prefix":"10.1002","volume":"31","author":[{"given":"Adrian J.","family":"Waite","sequence":"first","affiliation":[{"name":"Division of Psychological Medicine and Clinical Neurosciences MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University Cardiff United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca A.","family":"Carlisle","sequence":"additional","affiliation":[{"name":"Division of Psychological Medicine and Clinical Neurosciences MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University Cardiff United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiumo Michael","family":"Chan","sequence":"additional","affiliation":[{"name":"McColl\u2010Lockwood Laboratory for Muscular Dystrophy Research Carolinas Medical Center Charlotte North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5005-4731","authenticated-orcid":false,"given":"Derek J.","family":"Blake","sequence":"additional","affiliation":[{"name":"Division of Psychological Medicine and Clinical Neurosciences MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University Cardiff United 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