The TMEM43 S358L mutation affects cardiac, small intestine, and metabolic homeostasis in a knock-in mouse model.

Buyan-Ochir Orgil,Undral Munkhsaikhan,Joseph F Pierre,Ning Li,Fuyi Xu,Neely R Alberson,Jason N Johnson,Glenn T Wetzel,Bastiaan J D Boukens,Lu Lu,Jeffrey A Towbin,Enkhsaikhan Purevjav

American journal of physiology. Heart and circulatory physiology（2023）

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摘要

We defined Tmem43 S358L-induced pathological effects on cardiac and intestinal homeostasis viadistinctly disturbed WNT-b-catenin and PPARG signaling thereby contributing to ARVC5 pathophysiology. Results suggest that cardio-metabolic assessment in mutation carriers may be important for predictive and personalized care.

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关键词

ARVC5,PPARG,TMEM43/LUMA,Wnt-b-catenin,arrhythmogenic cardiomyopathy

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