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Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis

23 Jan 2024

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease involving selective vulnerability of energy-intensive motor neurons (MNs). It has been unclear whether mitochondrial function is an upstream driver or a downstream modifier of neurotoxicity. We separated upstream genetic determinants of mitochondrial function, including genetic variation within the mitochondrial genome or autosomes; from...

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PMID: 38317984
DOI: 10.1016/j.heliyon.2024.e24975

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