A 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 Ca(2+) channel α(1A) 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 (α(1...

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Bibliografiset tiedot
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: National Academy of Sciences 2010
Aiheet:
Biological Sciences
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC2824376/
https://ncbi.nlm.nih.gov/pubmed/20080591
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0908359107
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