Associated Papers
Branched-chain amino acid transferase 2 (BCAT2) deficiency: A case series and systematic review.
Filipic M et al.
Molecular Genetics and Metabolism Reports, 2026
Leucine inhibits degradation of outer mitochondrial membrane proteins to adapt mitochondrial respiration.
Li Q et al.
Nature Cell Biology, 2025
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Knerr I et al.
Journal of Inherited Metabolic Disease, 2019
Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study.
Teslovich TM et al.
Human Molecular Genetics, 2018
Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.
Wang XL et al.
Journal of Inherited Metabolic Disease, 2015
BRANCHED CHAIN AMINO ACIDS AT THE EDGE BETWEEN MENDELIAN AND COMPLEX DISORDERS.
Haydar S et al.
Acta Endocrinologica (bucharest, Romania : 2005), 0
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