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...

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Podrobná bibliografie
Vydáno v:Dis Model Mech
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: The Company of Biologists Ltd 2017
Témata:
Research Article
On-line přístup: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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