Article
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder.
HGG advances - 15 Jan 2026
DiSanza Brianna L, Porcari Giulia S, Sertori Finoti Livia, Ramos-Rodriguez Leonardo, Burris Devin M, McDonough Justin A, Ning Gang, Fagan Grace, Helman Guy T, Weiss Erin, Taft Ryan J, Pizzino Amy, Whitehead Matthew T, Waldman Amy, Simons Cas, Ortiz-Gonzalez Xilma, Skarnes William C, Vanderver Adeline, Bhoj Elizabeth J, Ahrens-Nicklas Rebecca C
Abstract excerpt
Branched-chain amino acid transaminase-1 (BCAT1) initiates the catabolism of branched-chain amino acids (BCAAs), which are essential for neurologic function. However, the role of BCAT1 in neurodevelopment is largely unknown. Here, we identify compound heterozygous BCAT1 variants in a patient with a severe progressive neurodevelopmental syndrome. To investigate the functional consequences, we established patient...
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