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

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 Q(b)-SNARE GOSR2, which forms a SNARE complex with syntaxin-5, Bet1 and Sec22b. Most PME patients...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Dis Model Mech
Egile Nagusiak: Völker, Jörn M., Dergai, Mykola, Abriata, Luciano A., Mingard, Yves, Ysselstein, Daniel, Krainc, Dimitri, Dal Peraro, Matteo, Fischer von Mollard, Gabriele, Fasshauer, Dirk, Koliwer, Judith, Schwake, Michael
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The Company of Biologists Ltd 2017
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5769602/
https://ncbi.nlm.nih.gov/pubmed/28982678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.029132
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