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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Detalhes bibliográficos
Publicado no:Cell Mol Life Sci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Springer Basel 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4531139/
https://ncbi.nlm.nih.gov/pubmed/25854634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00018-015-1894-2
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