Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies

• প্রধান লেখক: Jörn M. Völker (লেখক), Mykola Dergai (লেখক), Luciano A. Abriata (লেখক), Yves Mingard (লেখক), Daniel Ysselstein (লেখক), Dimitri Krainc (লেখক), Matteo Dal Peraro (লেখক), Gabriele Fischer von Mollard (লেখক), Dirk Fasshauer (লেখক), Judith Koliwer (লেখক), Michael Schwake (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: The Company of Biologists, 2017-12-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Progressive myoclonus epilepsies (PMEs) are inherited disorders characterized by myoclonus, generalized tonic-clonic seizures, and ataxia. One of the genes that is associated with PME is the ER-to-Golgi Qb-SNARE GOSR2, which forms a SNARE complex with syntaxin-5, Bet1 and Sec22b. Most PME patients a...