Article
Regulation of Mutant Huntingtin Mitochondrial Toxicity by Phosphomimetic Mutations within Its N-Terminal Region.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 19 Feb 2025
Yablonska Svitlana, Strohlein Colleen E, Baranov Sergei V, Yeh Stacy M, Patel Aashka, Singh Tanisha, Jauhari Abhishek, Kim JinHo, Khattar Nicolas K, Li Fang, Wang Xiaomin, Chang Yue-Fang, Lee C Y Daniel, Yang X William, Carlisle Diane L, Friedlander Robert M
Abstract excerpt
Huntington's disease (HD), a neurodegenerative disease, affects approximately 30,000 people in the United States, with 200,000 more at risk. Mitochondrial dysfunction caused by mutant huntingtin (mHTT) drives early HD pathophysiology. mHTT binds the translocase of the mitochondrial inner membrane (TIM23) complex, inhibiting mitochondrial protein import and altering the mitochondrial proteome. The 17 aa HTT...
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