A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

P/Q-type channels are the principal presynaptic calcium channels in brain functioning in neurotransmitter release. They are composed of the pore-forming Ca(V)2.1 α(1) subunit and the auxiliary α2δ-2 and β(4) subunits. β(4) is encoded by CACNB4, and its multiple splice variants serve isoform-specific...

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Detalles Bibliográficos
Autores principales: Coste de Bagneaux, Pierre, von Elsner, Leonie, Bierhals, Tatjana, Campiglio, Marta, Johannsen, Jessika, Obermair, Gerald J., Hempel, Maja, Flucher, Bernhard E., Kutsche, Kerstin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176149/
https://www.ncbi.nlm.nih.gov/pubmed/32176688
http://dx.doi.org/10.1371/journal.pgen.1008625

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176149/
https://www.ncbi.nlm.nih.gov/pubmed/32176688
http://dx.doi.org/10.1371/journal.pgen.1008625

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