Article
Genome-wide association analysis identifies APOE as a mitophagy modifier in Lewy body disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Apr 2025
Hou Xu, Heckman Michael G, Fiesel Fabienne C, Koga Shunsuke, Soto-Beasley Alexandra I, Watzlawik Jens O, Zhao Jing, Valentino Rebecca R, Johnson Patrick W, White Launia J, Quicksall Zachary S, Reddy Joseph S, Bras Jose, Guerreiro Rita, Zhao Na, Bu Guojun, Dickson Dennis W, Ross Owen A, Springer Wolfdieter
Abstract excerpt
INTRODUCTION: Phosphorylated ubiquitin (p-S65-Ub) is generated during PINK1-PRKN mitophagy as a specific marker of mitochondrial damage. Despite the widespread deposition of p-S65-Ub in aged and diseased human brain, the genetic contribution to its accumulation remains unclear. METHODS: To identify novel mitophagy regulators, we performed a genome-wide association study using p-S65-Ub level as a quantitative...
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