Enrichment of mutant calmodulin protein in a murine model of a human calmodulinopathy.

doi:10.1172/jci.insight.185524

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Article

Enrichment of mutant calmodulin protein in a murine model of a human calmodulinopathy.

JCI insight - 9 Sept 2025

Tsai Wen-Chin, Yang Chiu-Fen, Lin Shu-Yu, Liang Suh-Yuen, Tsai Wei-Chung, Guo Shuai, Li Xiaochun, Ofner Susan, Yang Kai-Chien, Meng Tzu-Ching, Chen Peng-Sheng, Rubart Michael

Abstract excerpt

Heterozygosity for missense mutations in 1 of 3 seemingly redundant calmodulin-encoding (CALM-encoding) genes can cause life-threatening arrhythmias, suggesting that small fractions of mutant CALM protein suffice to cause a severe phenotype. However, the exact molar ratios of wild-type to mutant CALM protein in calmodulinopathy hearts remain unknown. The aim of the present study was to quantitate mutant versus...

Read the complete abstract on PubMed

Topics

Animals
Calmodulin
Mice
Disease Models, Animal
Humans
Mutation, Missense

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Gene Knock-In Techniques

Arrhythmias, Cardiac

Myocardium

Heterozygote

Phenotype

Male

Homozygote

Source

Open in PubMed Open full text

Identifiers

PMID: 40705464
DOI: 10.1172/jci.insight.185524
PMCID: PMC12487685

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