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_00109...

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Dettagli Bibliografici
Pubblicato in:Neurobiol Dis
Autori principali: Xiao, Jianfeng, Vemula, Satya R., Xue, Yi, Khan, Mohammad M., Carlisle, Francesca A., Waite, Adrian J., Blake, Derek J., Dragatsis, Ioannis, Zhao, Yu, LeDoux, Mark S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5283163/
https://ncbi.nlm.nih.gov/pubmed/27890709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2016.11.003
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