Literature summary for 2.3.1.168 extracted from

Tsai, H.Y.; Wu, S.C.; Li, J.C.; Chen, Y.M.; Chan, C.C.; Chen, C.H.
Loss of the Drosophila branched-chain alpha-keto acid dehydrogenase complex (BCKDH) results in neuronal dysfunction (2020), Dis. Model. Mech., 13, dmm044750 .

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Application

Application	Comment	Organism
medicine	creation of a Drosophila model of maple syrup urine disease MSUD by knocking out the DBT gene, an ortholog of the human gene encoding the dihydrolipoamide branched chain transacylase (DBT) subunit of BCKDH. The homozygous DBT mutant larvae recapitulate an array of MSUD phenotypes, including aberrant branched-chain amino acid accumulation, developmental defects, poor mobile behavior and disrupted L-glutamate homeostasis. The DBT mutation causes neuronal apoptosis during the developmental progression of larval brains and severe impairment of retinal rhabdomeres. The DBT mutant shows elevated oxidative stress and higher lipid peroxidation accumulation in the larval brain. When the DBT mutants are administrated with antidiabetic drug metformin, the aberrances in branched-chain amino acid levels and motor behavior are ameliorated	Drosophila melanogaster

Organism

Organism	UniProt	Comment	Textmining
Drosophila melanogaster	-	-	-

Synonyms

Synonyms	Comment	Organism
DBT	-	Drosophila melanogaster
dihydrolipoamide branched chain transacylase	-	Drosophila melanogaster

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Release 2023.1 (January 2023)