Branched Chain Keto Acid Dehydrogenase E1, beta Polypeptide Proteins (BCKDHB)

Pig (Porcine) Branched Chain Keto Acid Dehydrogenase E1, beta Polypeptide (BCKDHB) interaction partners

1. analysis of NCF2, BCKDHB and BCKDHA in pig

Human Branched Chain Keto Acid Dehydrogenase E1, beta Polypeptide (BCKDHB) interaction partners

1. Two heterozygous mutations c.284G>C (p.Gly95Ala) and c.853C>T (p.Arg285*) of the BCKDHB gene were associated with a pedigree affected with maple syrup urine disease.

2. 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

3. 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).

4. 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

5. Five novel mutations in BCKDHB were identified in MSUD patients.

6. we describe the presenting symptoms and clinical course of a Chinese boy with intermittent Intermittent maple syrup urine disease from BCKDHB gene mutation

7. Mutations in BCKDHB gene is associated with maple syrup urine disease.

8. BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population.

9. 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

10. cross-talk between thiamin diphosphate binding and phosphorylation loop conformation has an effect on human branched-chain alpha-keto acid decarboxylase/dehydrogenase

11. 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.

12. the two active sites in the E1b heterotetramer operate independently during the ThDP-dependent decarboxylation reaction

13. Reconstructed haplotype from BCKDHB variants was associated with premature ovarian failure.

14. 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

15. 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.

16. 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.

17. Founder mutation in Ashkenazi Jewish population that causes maple syrup urine disease.

Mouse (Murine) Branched Chain Keto Acid Dehydrogenase E1, beta Polypeptide (BCKDHB) interaction partners

1. 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.