Author

V. Arboleda

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Open access Jul 2026

Truncating ASXL1 variants rewire cellular metabolism via mitochondrial pyruvate carrier repression

A previously unrecognized chromatin-to-metabolism axis connecting gain-of-function ASXL1 truncation to mitochondrial pyruvate transport is defined, identifying MPC as a central mediator of epigenetic-metabolic crosstalk in both a rare developmental syndrome and ASXL1-mutant myeloid malignancy.

Isabella Lin, Michael Sigfrid S. Reyes, A. Krall et al. · bioRxiv · 0 citations

Open access Aug 2026

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.

Using patient-derived iPSCs and multi-omics profiling, it is demonstrated that early-truncating variants cause loss-of-function via nonsense-mediated decay (NMD), while late-truncating variants that escape NMD cause gain-of-function effects.

Aileen A. Nava, Yunier Pérez-Rodríguez, T.-C. Hsieh et al. · medRxiv · 0 citations