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Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. Additionally we are shipping BCKDHB Antibodies (34) and and many more products for this protein.
Showing 6 out of 6 products:
analysis of NCF2, BCKDHB and BCKDHA in pig
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
Five novel mutations in BCKDHB were identified in MSUD patients.
we describe the presenting symptoms and clinical course of a Chinese boy with intermittent Intermittent maple syrup urine disease from BCKDHB gene mutation
Mutations in BCKDHB gene is associated with maple syrup urine disease.
BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population.
analysis of roles of His291-alpha and His146-beta' in the reductive acylation reaction catalyzed by human branched-chain alpha-ketoacid dehydrogenase: refined phosphorylation loop structure in the active site
cross-talk between thiamin diphosphate binding and phosphorylation loop conformation has an effect on human branched-chain alpha-keto acid decarboxylase/dehydrogenase
A key tyrosine residue in the E1b active site functions as a conformational switch to reduce the reactivity of the thiamine diphosphate cofactor through interactions with its thiazolium ring.
the two active sites in the E1b heterotetramer operate independently during the ThDP-dependent decarboxylation reaction
Reconstructed haplotype from BCKDHB variants was associated with premature ovarian failure.
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
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 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.
Founder mutation in Ashkenazi Jewish population that causes maple syrup urine disease.
Disruption of the BDK gene establishes that regulation of BCKDH by phosphorylation is critically important for the regulation of oxidative disposal of branched-chain amino acids.
Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform.
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
, branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)
, mitochondrial branched-chain alpha-keto acid dehydrogenase E1-beta subunit
, branched chain keto acid dehydrogenase E1, beta polypeptide
, branched chain keto acid dehydrogenase E1 beta polypeptide
, branched chain keto acid dehydrogenase E1 beta-like
, 2-oxoisovalerate dehydrogenase beta subunit
, BCKDH E1-beta
, branched chain keto acid dehydrogenase E1 beta
, branched-chain alpha-keto acid dehydrogenase E1 component beta chain
, E1b-beta subunit of the branched-chain complex
, branched chain alpha-ketoacid dehydrogenase E1-beta subunit