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Article

Mechanistic Insights of the LEMD2 p.L13R Mutation and Its Role in Cardiomyopathy.

Circulation research - 20 Jan 2023

Chen Ruping, Buchmann Simone, Kroth Amos, Arias-Loza Anahi-Paula, Kohlhaas Michael, Wagner Nicole, Grüner Gianna, Nickel Alexander, Cirnu Alexandra, Williams Tatjana, Maack Christoph, Ergün Süleyman, Frantz Stefan, Gerull Brenda

Abstract excerpt

BACKGROUND: Nuclear envelope proteins play an important role in the pathogenesis of hereditary cardiomyopathies. Recently, a new form of arrhythmic cardiomyopathy caused by a homozygous mutation (p.L13R) in the inner nuclear membrane protein LEMD2 was discovered. The aim was to unravel the molecular mechanisms of mutant LEMD2 in the pathogenesis of cardiomyopathy. METHODS: We generated a Lemd2 p.L13R knock-in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36656972
DOI: 10.1161/CIRCRESAHA.122.321929

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