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.

The paper shows that CHCHD10S59L causes mitochondrial toxicity in Drosophila and HeLa cells, which can be mitigated by inhibiting TDP-43 mitochondrial translocation or PINK1 kinase activity.