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Article

Two deafness-causing (DFNA20/26) actin mutations affect Arp2/3-dependent actin regulation.

The Journal of biological chemistry - 3 Aug 2012

Kruth Karina A, Rubenstein Peter A

Abstract excerpt

Hearing requires proper function of the auditory hair cell, which is critically dependent upon its actin-based cytoskeletal structure. Currently, ten point mutations in nonmuscle γ-actin have been identified as causing progressive autosomal dominant nonsyndromic hearing loss (DFNA20/26), highlighting these ten residues as functionally important to actin structure and/or regulation. Two of the mutations, K118M and...

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PMID: 22718764
DOI: 10.1074/jbc.M112.377283
PMCID: PMC3411063

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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