Article
CHCHD2 mutant mice link mitochondrial deficits to PD pathophysiology.
Science advances - 14 Nov 2025
Liao Szu-Chi, Kano Kohei, Phanse Sadhna, Nguyen Mai, Margolis Elyssa, Fu YuHong, X Meng Jonathan, Moutaoufik Mohamed Taha, Chatterton Zac, Saccon Tatiana, Broderick Kirsten, Aoki Hiroyuki, Simms Jeffrey, Suteja Felicia Xaveria, Sei Yoshitaka, Huang Eric J, McAvoy Kevin, Manfredi Giovanni, Halliday Glenda, Babu Mohan, Nakamura Ken
Abstract excerpt
Mitochondrial dysfunction is a hallmark of Parkinson's disease (PD), but the mechanisms by which it drives autosomal dominant and idiopathic forms of PD remain unclear. To investigate this, we generated and performed a comprehensive phenotypic analysis of a knock-in mouse model carrying the T61I mutation in the mitochondrial protein CHCHD2 (coiled-coil-helix-coiled-coil-helix domain-containing 2), which causes...
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