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

• Päätekijät: Jörn M. Völker (Tekijä), Mykola Dergai (Tekijä), Luciano A. Abriata (Tekijä), Yves Mingard (Tekijä), Daniel Ysselstein (Tekijä), Dimitri Krainc (Tekijä), Matteo Dal Peraro (Tekijä), Gabriele Fischer von Mollard (Tekijä), Dirk Fasshauer (Tekijä), Judith Koliwer (Tekijä), Michael Schwake (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: The Company of Biologists, 2017-12-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...