Ontology highlight
ABSTRACT:
SUBMITTER: Boemer F
PROVIDER: S-EPMC8878489 | biostudies-literature | 2022 Feb
REPOSITORIES: biostudies-literature
Boemer François F Josse Claire C Luis Géraldine G Di Valentin Emmanuel E Thiry Jérôme J Cello Christophe C Caberg Jean-Hubert JH Dadoumont Caroline C Harvengt Julie J Lumaka Aimé A Bours Vincent V Debray François-Guillaume FG
International journal of molecular sciences 20220218 4
Branched-chain amino acids (BCAA) are essential amino acids playing crucial roles in protein synthesis and brain neurotransmission. Branched-chain ketoacid dehydrogenase (BCKDH), the flux-generating step of BCAA catabolism, is tightly regulated by reversible phosphorylation of its E1α-subunit. BCKDK is the kinase responsible for the phosphorylation-mediated inactivation of BCKDH. In three siblings with severe developmental delays, microcephaly, autism spectrum disorder and epileptic encephalopat ...[more]