Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner

The dominantly inherited cerebellar ataxias are a heterogeneous group of neurodegenerative disorders caused by Purkinje cell loss in the cerebellum. Recently, we identified loss-of-function mutations in the KCND3 gene as the cause of spinocerebellar ataxia type 19/22 (SCA19/22), revealing a previous...

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Detalles Bibliográficos
Autores principales: Duarri, Anna, Lin, Meng-Chin A., Fokkens, Michiel R., Meijer, Michel, Smeets, Cleo J. L. M., Nibbeling, Esther A. R., Boddeke, Erik, Sinke, Richard J., Kampinga, Harm H., Papazian, Diane M., Verbeek, Dineke S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Basel 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531139/
https://www.ncbi.nlm.nih.gov/pubmed/25854634
http://dx.doi.org/10.1007/s00018-015-1894-2

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