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ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

6 Jan 2017

Abstract excerpt

Calcium (Ca2+) is a physiological key factor, and the precise modulation of free cytosolic Ca2+ levels regulates multiple cellular functions. Store-operated Ca2+ entry (SOCE) is a major mechanism controlling Ca2+ homeostasis, and is mediated by the concerted activity of the Ca2+ sensor STIM1 and the Ca2+ channel ORAI1. Dominant gain-of-function mutations in STIM1 or ORAI1 cause tubular aggregate myopathy (TAM) or...

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Ion channel regulation and function
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PMID: 28058752
DOI: 10.1002/humu.23172

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ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate MyopathyPMID 28058752Read ↗

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

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.Semantic proximity Read ↗

Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome.Semantic proximity Read ↗

A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice.Semantic proximity Read ↗

A human tubular aggregate myopathy mutation unmasks STIM1-independent rapid inactivation of Orai1 channelsSemantic proximity Read ↗

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.Semantic proximity Read ↗

STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39.Semantic proximity Read ↗

Functional analyses of <i>STIM1</i> mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

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