Truncating ASXL1 variants rewire cellular metabolism via mitochondrial pyruvate carrier repression
Isabella Lin, Michael Sigfrid S. Reyes, Abigail S. Krall, Neerja Vashist, Suzanna Sarkissian, Nedas Matulionis, Aileen Ning, Linsey Stiles, Bianca E. Russell, Paul Mark B. Medina, Heather R. Christofk, Valerie A. Arboleda
This paper shows that truncating ASXL1 variants disrupt mitochondrial pyruvate transport, leading to metabolic changes and Wnt signaling dysregulation in Bohring-Opitz syndrome and myeloid leukemia.
bioRxiv · Jul 17, 2026 · PreprintGenetics