Literature DB >> 8651316

Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences.

J L Chuang, R P Cox, D T Chuang.   

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Year:  1996        PMID： 8651316      PMCID： PMC1915070     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  20 in total

1.  Premature termination of transcription and alternative splicing in the human transacylase (E2) gene of the branched-chain alpha-ketoacid dehydrogenase complex.

Authors:  K S Lau; J Lee; C W Fisher; R P Cox; D T Chuang
Journal:  FEBS Lett       Date:  1991-02-25       Impact factor: 4.124

Review 2.  The 2-oxo acid dehydrogenase complexes: recent advances.

Authors:  S J Yeaman
Journal:  Biochem J       Date:  1989-02-01       Impact factor: 3.857

3.  cDNA cloning and expression in Escherichia coli of a plasminogen activator inhibitor from human placenta.

Authors:  R D Ye; T C Wun; J E Sadler
Journal:  J Biol Chem       Date:  1987-03-15       Impact factor: 5.157

4.  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.

Authors:  J L Chuang; C R Fisher; R P Cox; D T Chuang
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

5.  Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.

Authors:  Y Nobukuni; H Mitsubuchi; F Endo; I Akaboshi; J Asaka; I Matsuda
Journal:  J Clin Invest       Date:  1990-07       Impact factor: 14.808

6.  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.

Authors:  C R Fisher; J L Chuang; R P Cox; C W Fisher; R A Star; D T Chuang
Journal:  J Clin Invest       Date:  1991-09       Impact factor: 14.808

7.  Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex.

Authors:  J L Chuang; R P Cox; D T Chuang
Journal:  FEBS Lett       Date:  1990-03-26       Impact factor: 4.124

8.  Structural organization and chromosomal localization of the gene for the E1 beta subunit of human branched chain alpha-keto acid dehydrogenase.

Authors:  H Mitsubuchi; Y Nobukuni; F Endo; I Matsuda
Journal:  J Biol Chem       Date:  1991-08-05       Impact factor: 5.157

9.  Isolation and characterization of a complementary DNA clone coding for the E1 beta subunit of the bovine branched-chain alpha-ketoacid dehydrogenase complex: complete amino acid sequence of the precursor protein and its proteolytic processing.

Authors:  Y Nobukuni; H Mitsubuchi; F Endo; J Asaka; R Oyama; K Titani; I Matsuda
Journal:  Biochemistry       Date:  1990-02-06       Impact factor: 3.162

10.  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.

Authors:  J L Chuang; J R Davie; J M Chinsky; R M Wynn; R P Cox; D T Chuang
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808
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  2 in total

Review 1.  Animal models of maple syrup urine disease.

Authors:  K J Skvorak
Journal:  J Inherit Metab Dis       Date:  2009-03-09       Impact factor: 4.982

2.  Maple syrup urine disease: mutation analysis in Turkish patients.

Authors:  A Dursun; M Henneke; K Ozgül; J Gartner; T Coşkun; A Tokatli; H S Kalkanoğlu; M Demirkol; U Wendel; I Ozalp
Journal:  J Inherit Metab Dis       Date:  2002-05       Impact factor: 4.982
  2 in total

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