mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis

Familial hemiplegic migraine (FHM)-causing mutations in the gene encoding the P/Q Ca²⁺ channel α₁A subunit (CACNA1A) locate to the pore and voltage sensor regions and normally involve gain-of-channel function. We now report on a mutation identified in the first intracellular loop of CACNA1A (α₁A₍A₄₅...

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Veröffentlicht in:Proceedings of the National Academy of Sciences - PNAS 2010-01, Vol.107 (4), p.1672-1677
Hauptverfasser: Serra, Selma A, Cuenca-León, Ester, Llobet, Artur, Rubio-Moscardo, Francisca, Plata, Cristina, Carreño, Oriel, Fernàndez-Castillo, Noèlia, Corominas, Roser, Valverde, Miguel A, Macaya, Alfons, Cormand, Bru, Fernández-Fernández, José M
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Sprache:eng
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