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A mutation in Ca(V)2.1 linked to a severe neurodevelopmental disorder impairs channel gating

Ca(2+) flux into axon terminals via P-/Q-type Ca(V)2.1 channels is the trigger for neurotransmitter vesicle release at neuromuscular junctions (NMJs) and many central synapses. Recently, an arginine to proline substitution (R1673P) in the S4 voltage-sensing helix of the fourth membrane-bound repeat...

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Detalles Bibliográficos
Autores principales:	Tyagi, Sidharth, Bendrick, Tyler R., Filipova, Dilyana, Papadopoulos, Symeon, Bannister, Roger A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Rockefeller University Press 2019
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571999/ https://www.ncbi.nlm.nih.gov/pubmed/31015257 http://dx.doi.org/10.1085/jgp.201812237

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