Article
Newfoundland Mutation TMEM43-p.S358L Causes Impaired Cardiac Energy Metabolism and Mitochondrial Function Through Altered Protein Interaction.
Circulation. Genomic and precision medicine - 1 Apr 2026
Ratnavadivel Sandra, Jürgens Kai, Klinke Nora, Gärtner Anna, Groß Joline, Klingel Karin, Malmendal Anders, Walter Stefan, Boen Hanne, Van Craenenbroeck Emeline, Schramm René, Kostareva Anna, Gummert Jan, Kassner Astrid, Meyer Heiko, Paululat Achim, Milting Hendrik
Abstract excerpt
BACKGROUND: TMEM43 (transmembrane protein 43) is a ubiquitously expressed 4-transmembrane-protein localized in the endoplasmic reticulum and nuclear lamina. The missense mutation TMEM43-p.S358L causes fully penetrant ARVC5 (arrhythmogenic right ventricular cardiomyopathy type 5) especially in males. The TMEM43 function of the protein and the pathomechanisms of TMEM43-p.S358L remain poorly understood. We analyzed...
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