Article
CHCHD2 harboring Parkinson's disease-linked T61I mutation precipitates inside mitochondria and induces precipitation of wild-type CHCHD2.
Human molecular genetics - 8 May 2020
Cornelissen Tom, Spinazzi Marco, Martin Shaun, Imberechts Dorien, Vangheluwe Peter, Bird Matthew, De Strooper Bart, Vandenberghe Wim
Abstract excerpt
The T61I mutation in coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), a protein residing in the mitochondrial intermembrane space (IMS), causes an autosomal dominant form of Parkinson's disease (PD), but the underlying pathogenic mechanisms are not well understood. Here, we compared the subcellular localization and solubility of wild-type (WT) and T61I mutant CHCHD2 in human cells. We found that...
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