The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes.

Condliffe, Steven B; Fratangeli, Alessandra; Munasinghe, Nehan R; Saba, Elena; Passafaro, Maria; Montrasio, Cristina; Ferrari, Maurizio; Rosa, Patrizia; Carrera, Paola

Condliffe, Steven B; Fratangeli, Alessandra; Munasinghe, Nehan R; Saba, Elena; Passafaro, Maria; Montrasio, Cristina; Ferrari, Maurizio; Rosa, Patrizia; Carrera, Paola.

Afiliación

Condliffe SB; Department of Physiology, University of Otago, 9054 Dunedin, New Zealand. Electronic address: steven.condliffe@otago.ac.nz.
Fratangeli A; Consiglio Nazionale delle Ricerche Institute of Neuroscience, Department of Medical Biotechnologies and Translational Medicine (BIOMETRA), University of Milan, 20129 Milan, Italy.
Munasinghe NR; Department of Physiology, University of Otago, 9054 Dunedin, New Zealand.
Saba E; Consiglio Nazionale delle Ricerche Institute of Neuroscience, Department of Medical Biotechnologies and Translational Medicine (BIOMETRA), University of Milan, 20129 Milan, Italy.
Passafaro M; Consiglio Nazionale delle Ricerche Institute of Neuroscience, Department of Medical Biotechnologies and Translational Medicine (BIOMETRA), University of Milan, 20129 Milan, Italy.
Montrasio C; Center of Translational Genomics and Bioinformatics and Laboraf, San Raffaele Hospital, 20132 Milan, Italy.
Ferrari M; Center of Translational Genomics and Bioinformatics and Laboraf, San Raffaele Hospital, 20132 Milan, Italy; Vita-Salute University, Clinical Pathology, 20132 Milan, Italy.
Rosa P; Consiglio Nazionale delle Ricerche Institute of Neuroscience, Department of Medical Biotechnologies and Translational Medicine (BIOMETRA), University of Milan, 20129 Milan, Italy. Electronic address: p.rosa@in.cnr.it.
Carrera P; Center of Translational Genomics and Bioinformatics and Laboraf, San Raffaele Hospital, 20132 Milan, Italy. Electronic address: carrera.paola@hsr.it.

J Biol Chem ; 288(47): 33873-33883, 2013 Nov 22.

Article en En | MEDLINE | ID: mdl-24108129

Asunto(s)

Canales de Calcio Tipo N; Hipocampo; Migraña con Aura; Mutación Missense; Proteínas del Tejido Nervioso; Terminales Presinápticos; Adolescente; Adulto; Sustitución de Aminoácidos; Animales; Canales de Calcio Tipo N/genética; Canales de Calcio Tipo N/metabolismo; Niño; Femenino; Células HEK293; Hipocampo/metabolismo; Hipocampo/patología; Humanos; Transporte Iónico/genética; Masculino; Persona de Mediana Edad; Migraña con Aura/genética; Migraña con Aura/metabolismo; Migraña con Aura/patología; Proteínas del Tejido Nervioso/genética; Proteínas del Tejido Nervioso/metabolismo; Terminales Presinápticos/metabolismo; Terminales Presinápticos/patología; Conejos; Ratas; Proteína 25 Asociada a Sinaptosomas/genética; Proteína 25 Asociada a Sinaptosomas/metabolismo; Sintaxina 1/genética; Sintaxina 1/metabolismo

Palabras clave

Calcium Channels; Genetics; Migraine; Neurological Diseases; Protein-Protein Interactions; SNARE Proteins

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Terminales Presinápticos / Mutación Missense / Migraña con Aura / Canales de Calcio Tipo N / Hipocampo / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Animals / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Biol Chem Año: 2013 Tipo del documento: Article Pais de publicación: Estados Unidos

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