Property Summary

NCBI Gene PubMed Count 51
PubMed Score 658.38
PubTator Score 33.60

Knowledge Summary

Patent

No data available

Expression

 GWAS Trait (1)

Protein-protein Interaction (2)

Gene RIF (18)

PMID Text
26453840 Five novel mutations in BCKDHA were identified in MSUD patients.
24603436 Targeted parallel sequencing revealed novel mutations in the gene BCKDHA for prenatal testing of maple syrup urine disease.
24268812 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.
23729548 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]
22956686 autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome.
22593002 BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population.
21844576 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
20877624 Observational study of gene-disease association. (HuGE Navigator)
20431954 Case Report: functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene in maple syrup urine disease.
20136525 Observational study of genetic testing. (HuGE Navigator)
19715473 five mutations, three of them novel, responsible for maple syrup urine disease
19480318 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.
19456321 A founder mutation in the BCKDHA is responsible for the high incidence of the maple syrup urine disease among Portuguese Gypsies.
19085071 Case Report: Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.
18378174 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.
17922217 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
16757574 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.
15322287 the conformational stability underlying the folding of this lipoic acid bearing domain of human mitochondrial branched chain alpha-ketoacid dehydrogenase

AA Sequence

MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQP      1 - 70
NVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGT     71 - 140
HVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLA    141 - 210
TQIPQAVGAAYAAKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYR    211 - 280
GDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDE    281 - 350
VNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQL    351 - 420
RKQQESLARHLQTYGEHYPLDHFDK                                                 421 - 445
//

Text Mined References (52)

PMID Year Title
26453840 2015 Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
24603436 2014 Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease.
24268812 2014 Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan.
23729548 2013 Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.
22956686 2012 Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
22593002 2012 Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1? and E1?.
21844576 2011 Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
20431954 2010 Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.
20136525 2010 DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities.
19715473 2009 Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.
19480318 Molecular genetics of maple syrup urine disease in the Turkish population.
19456321 2009 Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.
19085071 2008 Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.
18378174 2008 Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
17922217 2007 Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16757574 2006 Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes.
15576032 2004 Molecular mechanism for regulation of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase complex by phosphorylation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15322287 2004 Conformational stability and thermodynamic characterization of the lipoic acid bearing domain of human mitochondrial branched chain alpha-ketoacid dehydrogenase.
15166214 2004 Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain alpha-keto acid decarboxylase/dehydrogenase.
15057824 2004 The DNA sequence and biology of human chromosome 19.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12902323 2003 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.
12812918 2003 Potential role of leucine metabolism in the leucine-signaling pathway involving mTOR.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11839747 2002 Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex.
10745006 2000 Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.
9582350 1998 Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8161368 1993 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.
8037208 1994 Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.
7918575 1994 Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N-terminal proline in the rat sequence.
7883996 1995 Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.
3379058 1988 Isolation and sequencing of a cDNA encoding the decarboxylase (E1)alpha precursor of bovine branched-chain alpha-keto acid dehydrogenase complex. Expression of E1 alpha mRNA and subunit in maple-syrup-urine-disease and 3T3-L1 cells.
3224821 1988 Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase.
2914958 1989 Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex.
2805821 1989 Localization of the human gene for the El alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1----q13.2.
2703538 1989 Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.
2241958 1990 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.
2060625 1991 Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.
1943689 1991 Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease.
1889817 1991 Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31.
1885764 1991 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.
1867199 1991 Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
1861457 1991 Altered phosphorylation state of branched-chain 2-oxo acid dehydrogenase in a branched-chain acyltransferase deficient human fibroblast cell line.
1682165 1991 Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex (1991) FEBS Letters 284, 34-38.
1420356 1992 Nucleotide sequence of the 5' end including the initiation codon of cDNA for the E1 alpha subunit of the human branched chain alpha-ketoacid dehydrogenase complex.
1356170 1992 Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification.