Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome

Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome

Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus-dystonia syndrome (OMIM159900, DYT11). A “major” ε-SG protein derived from CCDS5637.1 (NM_003919.2) and a “brain-specific” protein, that includes sequence derived from alternative exon 11b (CCDS47642.1, NM_001099...

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Bibliographic Details
Main Authors: Jianfeng Xiao, Satya R. Vemula, Yi Xue, Mohammad M. Khan, Francesca A. Carlisle, Adrian J. Waite, Derek J. Blake, Ioannis Dragatsis, Yu Zhao, Mark S. LeDoux
Format: Article
Language:English
Published: Elsevier 2017-02-01
Series:Neurobiology of Disease
Subjects:
Sgce
Dystonia
Myoclonus
Sarcoglycans
Gene trap
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996116302625

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http://www.sciencedirect.com/science/article/pii/S0969996116302625

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