A human mitofusin 2 mutation causes mitophagic cardiomyopathy
Antonietta Franco, Jiajia Li, Daniel P. Kelly, Ray E. Hershberger, Ali J. Marian, Renate M. Lewis, Moshi Song, Xiawei Dang, Alina D. Schmidt, Mary Elizabeth Mathyer, John R. Edwards, Cristina de Guzman Strong, Gerald W. Dorn
The paper identifies a mitofusin 2 mutation (R400Q) that causes mitophagic cardiomyopathy by impairing mitochondrial fusion and Parkin recruitment, distinct from its role in CMT2A.
eLife · Sep 27, 2023Peer-reviewedDevelopmental Biology