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Article

Pseudo-obstruction-inducing ACTG2R257C alters actin organization and function.

JCI insight - 20 Aug 2020

Hashmi Sohaib Khalid, Barka Vasia, Yang Changsong, Schneider Sabine, Svitkina Tatyana M, Heuckeroth Robert O

Abstract excerpt

Actin γ 2, smooth muscle (ACTG2) R257C mutation is the most common genetic cause of visceral myopathy. Individuals with ACTG2 mutations endure prolonged hospitalizations and surgical interventions, become dependent on intravenous nutrition and bladder catheterization, and often die in childhood. Currently, we understand little about how ACTG2 mutations cause disease, and there are no mechanism-based treatments....

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Share to Actin Cytoskeleton
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32814715
DOI: 10.1172/jci.insight.140604
PMCID: PMC7455133

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