Article

MECP2 Duplication Uncouples Mitochondrial and Purine Metabolism During neuronal maturation

2025-12-26

Abstract excerpt

Mitochondria and nucleotide metabolism are critical for cellular and developmental homeostasis, yet their potential interdependence and role in neurodevelopmental disease remain unclear. In MECP2 Duplication Syndrome (MDS), we identify a conserved correlation between mitochondrial function and purine metabolism that is disrupted across human, organoid, and mouse models. Multiomics integration reveals Complex III...

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Literature Corpus work: 0ca34d8d-a1f4-5618-8cce-63d5da42cd8d
DOI: 10.64898/2025.12.24.696399

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