Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses. They mediate the priming step that renders synaptic vesicles fusion-competent, and their genetic elimination causes a complete block of synaptic transmission. Here we have described a patient displaying a di...

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Библиографические подробности
Опубликовано в: :J Clin Invest
Главные авторы: Lipstein, Noa, Verhoeven-Duif, Nanda M., Michelassi, Francesco E., Calloway, Nathaniel, van Hasselt, Peter M., Pienkowska, Katarzyna, van Haaften, Gijs, van Haelst, Mieke M., van Empelen, Ron, Cuppen, Inge, van Teeseling, Heleen C., Evelein, Annemieke M.V., Vorstman, Jacob A., Thoms, Sven, Jahn, Olaf, Duran, Karen J., Monroe, Glen R., Ryan, Timothy A., Taschenberger, Holger, Dittman, Jeremy S., Rhee, Jeong-Seop, Visser, Gepke, Jans, Judith J., Brose, Nils
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 2017
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5330740/
https://ncbi.nlm.nih.gov/pubmed/28192369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI90259
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