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Article

Functional characterization of the human α-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy.

Cellular and molecular life sciences : CMLS - 1 Oct 2012

Müller Mirco, Mazur Antonina Joanna, Behrmann Elmar, Diensthuber Ralph P, Radke Michael B, Qu Zheng, Littwitz Christoph, Raunser Stefan, Schoenenberger Cora-Ann, Manstein Dietmar J, Mannherz Hans Georg

Abstract excerpt

Inherited cardiomyopathies are caused by point mutations in sarcomeric gene products, including α-cardiac muscle actin (ACTC1). We examined the biochemical and cell biological properties of the α-cardiac actin mutations Y166C and M305L identified in hypertrophic cardiomyopathy (HCM). Untagged wild-type (WT) cardiac actin, and the Y166C and M305L mutants were expressed by the baculovirus/Sf9-cell system and...

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Identifiers

PMID: 22643837
DOI: 10.1007/s00018-012-1030-5
PMCID: PMC11115188

Genes

ACTC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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