Literature DB >> 2335211

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

J L Chuang1, R P Cox, D T Chuang.   

Abstract

We have isolated a cDNA encoding the E1b-beta subunit of the human branched-chain alpha-keto acid dehydrogenase complex. The human E1b-beta cDNA is 1401 base pairs in length. It encodes the entire mature E1b-beta subunit consisting of 342 amino acid residues, and a mitochondrial targeting presequence of 31 residues. The calculated molecular mass of the mature human E1b-beta subunit is 37,851 Da, and the calculated isoelectric point is pH 5.18. A hydropathy plot shows that the human E1b-beta subunit is highly hydrophobic. Northern blot analysis shows that the human E1b-beta mRNA is approximately 1.4 kb in size. It is present at the normal level in fibroblasts from two unrelated maple syrup urine disease patients.

Entities:  

Mesh：

Substances：

Year:  1990        PMID： 2335211     DOI： 10.1016/0014-5793(90)80215-5

Source DB:  PubMed          Journal:  FEBS Lett        ISSN： 0014-5793            Impact factor:   4.124


  6 in total

1.  New nucleotide sequence data on the EMBL File Server.

Authors: 
Journal:  Nucleic Acids Res       Date:  1991-01-11       Impact factor: 16.971

2.  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.

Authors:  J L Chuang; R P Cox; D T Chuang
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

Review 3.  Maple syrup urine disease 1954 to 1993.

Authors:  F Peinemann; D J Danner
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

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 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

6.  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
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.