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Article

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

1 Nov 2018

Abstract excerpt

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 constitutive Ca 2+ influx and increasing the currents evoked by Ca 2+ store depletion. Mutation V107M additionally decreases...

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PMID: 30382595
DOI: 10.1113/jp277079

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ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domainPMID 30382595Read ↗

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