Genetic analysis reveals PSMF1 variants cause early-onset Parkinson's disease and perinatal lethality in humans, highlighting mitochondrial pathway disruption in neurodegeneration.
Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers and therapeutic targets. Here, we identify
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Magrinelli et al. (2024) studied this question.
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