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http://hdl.handle.net/2445/183703
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DC Field | Value | Language |
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dc.contributor.author | Serra, Selma A. | - |
dc.contributor.author | Cuenca León, Ester | - |
dc.contributor.author | Llobet Berenguer, Artur, 1972- | - |
dc.contributor.author | Rubio-Moscardo, Francisca | - |
dc.contributor.author | Plata, Cristina | - |
dc.contributor.author | Carreño, Oriel | - |
dc.contributor.author | Fernàndez Castillo, Noèlia | - |
dc.contributor.author | Corominas Castiñeira, Roser | - |
dc.contributor.author | Valverde, Miguel A. | - |
dc.contributor.author | Macaya, Alfons | - |
dc.contributor.author | Cormand Rifà, Bru | - |
dc.contributor.author | Fernández-Fernández, José M. | - |
dc.date.accessioned | 2022-03-02T17:56:29Z | - |
dc.date.available | 2022-03-02T17:56:29Z | - |
dc.date.issued | 2010 | - |
dc.identifier.issn | 0027-8424 | - |
dc.identifier.uri | http://hdl.handle.net/2445/183703 | - |
dc.description.abstract | 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(A454T)) that does not cause FHM but is associated with the absence of sensorimotor symptoms in a migraine with aura pedigree. α1A(A454T) channels showed weakened regulation of voltage-dependent steady-state inactivation by CaVβ subunits. More interestingy, A454T mutation suppressed P/Q channel modulation by syntaxin 1A or SNAP-25 and decreased exocytosis. Our findings reveal the importance of I-II loop structural integrity in the functional interaction between P/Q channel and proteins of the vesicle-docking/fusion machinery, and that genetic variation in CACNA1A may be not only a cause but also a modifier of migraine phenotype. | - |
dc.format.extent | 6 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | National Academy of Sciences | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1073/pnas.0908359107 | - |
dc.relation.ispartof | Proceedings of the National Academy of Sciences of the United States of America - PNAS, 2010, vol. 107, num. 4, p. 1672-1677 | - |
dc.relation.uri | https://doi.org/10.1073/pnas.0908359107 | - |
dc.rights | (c) Serra, Selma A. et al., 2010 | - |
dc.source | Articles publicats en revistes (Genètica, Microbiologia i Estadística) | - |
dc.subject.classification | Migranya | - |
dc.subject.classification | Genètica | - |
dc.subject.other | Migraine | - |
dc.subject.other | Genetics | - |
dc.title | A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 588222 | - |
dc.date.updated | 2022-03-02T17:56:30Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
Appears in Collections: | Articles publicats en revistes (Patologia i Terapèutica Experimental) Articles publicats en revistes (Genètica, Microbiologia i Estadística) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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588222.pdf | 753.67 kB | Adobe PDF | View/Open |
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