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ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain

KEY POINTS: Gain‐of‐function mutations in the highly selective Ca(2+) channel ORAI1 cause tubular aggregate myopathy (TAM) characterized by muscular pain, weakness and cramping. TAM‐associated mutations in ORAI1 first and third transmembrane domain facilitate channel opening by STIM1, causing consti...

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Detalles Bibliográficos
Autores principales: Bulla, M., Gyimesi, G., Kim, J.H., Bhardwaj, R., Hediger, M.A., Frieden, M., Demaurex, N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332830/
https://www.ncbi.nlm.nih.gov/pubmed/30382595
http://dx.doi.org/10.1113/JP277079