Article

AMPD2 deficiency implicates cytosolic purine metabolism in the pathogenesis of Leigh syndrome

2025-09-19

Abstract excerpt

<h4>Importance</h4> Cellular mechanisms underlying mitochondrial dysfunction, a hallmark feature of many neurodegenerative conditions, remain incompletely understood, and their true diversity is unknown. <h4>Objective</h4> To identify and functionally validate novel genetic variants causative of Leigh syndrome. <h4>Design</h4> We performed whole genome sequencing (WGS) and first-degree relative genotyping on tw...

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Literature Corpus work: cdd0433f-9f15-576c-b42f-6172a0c86116
DOI: 10.1101/2025.09.17.25335877

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