Article
Pathological characterization of a novel mouse model expressing the PD-linked CHCHD2-T61I mutation.
Human molecular genetics - 28 Nov 2022
Kee Teresa R, Wehinger Jessica L, Gonzalez Pamela Espinoza, Nguyen Eric, McGill Percy Kyle C, Khan Sophia A, Chaput Dale, Wang Xinming, Liu Tian, Kang David E, Woo Jung-A A
Abstract excerpt
Coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) is a mitochondrial protein that plays important roles in cristae structure, oxidative phosphorylation and apoptosis. Multiple mutations in CHCHD2 have been associated with Lewy body disorders (LBDs), such as Parkinson's disease (PD) and dementia with Lewy bodies, with the CHCHD2-T61I mutation being the most widely studied. However, at present, only...
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