Six different novel genetic variants were validated in BCKDHB gene and BCKDHA gene including c.523 T > C c.659delA c.550delT c.863G > A and two gross deletions
Data suggest that the following genetic modifications are involved in patients with maple syrup urine disease in Iran: (1) mutation in BCKDHA (branched chain keto acid dehydrogenase E1 alpha); (2) mutation in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta); (3) mutation in DBT (dihydrolipoamide branched chain transacylase E2; one patient).
we identified seven novel genetic variants: p.Leu549Pro p.Glu564* p.Leu641Pro in MUT p.Tyr206Cys in PCCB p.His194Arg p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants
The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved.
Data from infant/her heterozygous parents (first cousins) suggest homozygous mutation (S144I) in BCKDHA can result in maple syrup urine disease (IA); molecular modeling suggests this missense mutation in exon 4 affects protein stability. [CASE STUDY]
identified 4 novel mutations of the BCKDHA gene in 3 Korean newborns; to the best of knowledge this is the first report of maple syrup urine disease confirmed by genetic analysis in Korea
In 37% (12 patients) of a total of 64 alleles the supposed maple syrup urine disease-causing mutations in Turkish patients were located in the BCKDHA gene in 44% (14 patients) in the BCKDHB gene and in 19% (6 patients) in the DBT gene.
30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA 5 in BCKDHB and 6 in DBT); 7 of are described for the first time.
in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB & DBT genes
A list of nine primary candidate genes for T2D and five for obesity were identified in this paper. Two genes LPL and BCKDHA were common to these two sets.
the conformational stability underlying the folding of this lipoic acid bearing domain of human mitochondrial branched chain alpha-ketoacid dehydrogenase
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