Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K(V)4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties

KCND3 encodes the voltage-gated potassium channel K(V)4.3 that is highly expressed in the cerebellum, where it regulates dendritic excitability and calcium influx. Loss-of-function K(V)4.3 mutations have been associated with dominant spinocerebellar ataxia (SCA19/22). By targeted NGS sequencing, we...

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Detalles Bibliográficos
Autores principales: Zanni, Ginevra, Hsiao, Cheng-Tsung, Fu, Ssu-Ju, Tang, Chih-Yung, Capuano, Alessandro, Bosco, Luca, Graziola, Federica, Bellacchio, Emanuele, Servidei, Serenella, Primiano, Guido, Soong, Bing-Wen, Jeng, Chung-Jiuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8125845/
https://www.ncbi.nlm.nih.gov/pubmed/34067185
http://dx.doi.org/10.3390/ijms22094986

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