Article
Human genetic analyses of organelles highlight the nucleus in age-related trait heritability.
eLife - 1 Sept 2021
Gupta Rahul, Karczewski Konrad J, Howrigan Daniel, Neale Benjamin M, Mootha Vamsi K
Abstract excerpt
Most age-related human diseases are accompanied by a decline in cellular organelle integrity, including impaired lysosomal proteostasis and defective mitochondrial oxidative phosphorylation. An open question, however, is the degree to which inherited variation in or near genes encoding each organelle contributes to age-related disease pathogenesis. Here, we evaluate if genetic loci encoding organelle proteomes...
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