Citations for
1BCKDHA, MSUD1A
Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.
Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Brasil S, Kecman B, Grkovic S, Kostic J, Rodriguez-Pombo P, Desviat LR, Pavlovic S, Perez B.
Clin Genet 90(3):252-7. doi: 10.1111/cge.12751. Epub 2016 Mar 4. 2016
2BCKDHA, MSUD1A
Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
Li X, Ding Y, Liu Y, Ma Y, Song J, Wang Q, Li M, Qin Y, Yang Y.
Eur J Med Genet 58(11):617-23. doi: 10.1016/j.ejmg.2015.10.002. Epub 2015 Oct 8. 2015
3BCKDHA, BCKDK, BCKDKD
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG.
Science 338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6. 2012
4BCKDHA, MSUD1A
Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
Park HD, Lee DH, Hong YH, Kang DH, Lee YK, Song J, Lee SY, Kim JW, Ki CS, Lee YW.
Ann Clin Lab Sci 41(2):167-73. 2011
5BCKDHA, MSUD1A
Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.
Quental S, Martins E, Vilarinho L, Amorim A, Joo Prata M.
J Inherit Metab Dis 31 Suppl 2:S457-60. doi: 10.1007/s10545-008-1046-z. Epub 2008 Dec 16. 2008
6BCKDHA, BCKDHB, DBT, MSUD1A, MSUD1B, MSUD2
Mutational spectrum of maple syrup urine disease in Spain.
Rodriguez-Pombo P, Navarrete R, Merinero B, Gomez-Puertas P, Ugarte M.
Hum Mutat 27(7):715. 2006
7BCKDHA, BCKDHB, DBT, MSUD1A, MSUD1B, MSUD2
Lessons from genetic disorders of branched-chain amino acid metabolism.
Chuang DT, Chuang JL, Wynn RM.
J Nutr 136(1 Suppl):243S-9S. Review. 2006
8BCKDHA, MSUD1A
Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients.
Love-Gregory LD, Grasela J, Hillman RE, Phillips CL.
Mol Genet Metab 75(1):79-90. 2002
9BCKDHA, MSUD1A
Molecular and biochemical basis of intermediate maple syrup urine disease. Occurence of homozygous G245R and F364C mutations at the E1alpha locus.
Chuang JL, et al.
J Clin Invest 95 : 954-963. 1995
10BCKDHA, MSUD1A
Molecular basis of maple syrup urine disease : novel mutations at the EI alpha locus that impair EI (alpha2beta2) assembly or decrease steady-state EIalpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.
Chuang JL, et al.
Am J Hum Genet 55 : 297-304. 1994
11BCKDHA, BCKDHB, MSUD1A, MSUD1B
Heterogeneity of mutations in maple syrup urine disease (MSUD) : screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
Nobukuni Y, et al.
Biochim Biophys Acta 1225 : 64-70. 1993
12BCKDHA, MSUD1A
Gene analysis of Mennonite maple syrup urine disease kindred using primer-specific restriction map modification.
Mitsubichi H, et al.
J Inherit Metab Dis 15 : 181-187. 1992
13BCKDHA
Structure of the gene encoding the entire mature E1-alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.
Dariush N, et al.
FEBS Lett 284 : 34-38. 1991
14BCKDHA, MSUD1A
Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1-alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.
Fisher CR, et al.
J Clin Invest 88 : 1034-1037. 1991
15BCKDHA, MSUD1A
Occurrence of a Tyr393-Asn (Y393N) mutation in the EIalpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
Fisher CR, et al.
Am J Hum Genet 49 : 429-434. 1991
16BCKDHA, MSUD1A
Molecular defects in the E1alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease.
Zhang B, et al.
Mol Biol Med 8 : 39-47. 1991
17BCKDHA, MSUD1A
Sequence of the EIalpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease.
Zhang B, et al.
Am J Hum Genet 46 : 843-846. 1990
18BCKDHA, MSUD1A
A T-to-A substitution in the E1-alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from menonite maple syrup urine disease patients.
Matsuda I, et al.
Biochem Biophys Res Commun 172 : 646-651. 1990
19BCKDHA
Assignment of the gene for the E1alpha subunit of branched chain alpha-ketoacid dehydrogenase to chromosome 19.
Crabb DW, Deaven LL, Luedemann M, Zhang B, Harris RA.
Cytogenet Cell Genet 50 : 40-41. 1989
20BCKDHA
Localization of the human gene for the El-alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1-q13.2.
Fekete G, et al.
Cytogenet Cell Genet 50 : 236-237. 1989
21BCKDHA
Cloning and chromosome mapping of a cDNA encoding the E1 subunit of branched chain ketoacid dehydrogenase (BCKAD).
Tiu AB, et al.
Am J Hum Genet 43 : A17. 1988
22BCKDHA
Branched-chain aminotransferase deficiency in chinese hamster cells complemented by two independent genes on human chromosomes 12 and 19.
Naylor SL, et al.
Somatic Cell Genet 6 : 641-652. 1980