Article

Truncating <i>ASXL1</i> variants rewire cellular metabolism via mitochondrial pyruvate carrier repression

2026-07-17

Abstract excerpt

<h4>ABSTRACT</h4> Bohring-Opitz syndrome (BOS, OMIM#605309) is a rare neurodevelopmental disorder caused by heterozygous and truncating variants in ASXL1 (Additional Sex Combs Like 1 ), a chromatin-associated epigenetic regulator that forms the catalytic PR-DUB complex with BAP1. Truncating ASXL1 variants are also recurrent somatic drivers in myeloid leukemia, yet the metabolic consequences of these mutations r...

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Literature Corpus work: 925f3d56-13ab-56f5-83ab-81484c78b4c2
DOI: 10.64898/2026.07.13.737346

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