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Article

Molecular mechanisms of disease-related human β-actin mutations p.R183W and p.E364K.

The FEBS journal - 1 Dec 2014

Hundt Nikolas, Preller Matthias, Swolski Olga, Ang Angella M, Mannherz Hans G, Manstein Dietmar J, Müller Mirco

Abstract excerpt

Cytoplasmic β-actin supports fundamental cellular processes in healthy and diseased cells including cell adhesion, migration, cytokinesis and maintenance of cell polarity. Mutations in ACTB, the gene encoding cytoplasmic β-actin, lead to severe disorders with a broad range of symptoms. The two dominant heterozygous gain-of-function β-actin mutations p.R183W and p.E364K were identified in patients with...

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Identifiers

PMID: 25255767
DOI: 10.1111/febs.13068

Genes

ACTB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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