Literature DB >> 1420314

The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex.

K S Lau1, J L Chuang, W J Herring, D J Danner, R P Cox, D T Chuang.   

Abstract

We have determined the complete nucleotide sequence for the cDNA encoding human dihydrolipoyl transacylase (E2) using the rapid amplification of cDNA ends (RACE) procedure. The full-length E2 cDNA is 3535 nucleotides in length. The coding region spans 1446 bp and the 3'-noncoding region spans 2074 bp. The latter contains three Alu repetitive sequences and two transcription termination sites.

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Year:  1992        PMID： 1420314     DOI： 10.1016/0167-4781(92)90169-z

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN： 0006-3002


  6 in total

1.  Expression, purification, and structural analysis of the trimeric form of the catalytic domain of the Escherichia coli dihydrolipoamide succinyltransferase.

Authors:  J E Knapp; D Carroll; J E Lawson; S R Ernst; L J Reed; M L Hackert
Journal:  Protein Sci       Date:  2000-01       Impact factor: 6.725

Review 2.  Maple syrup urine disease 1954 to 1993.

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

3.  E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.

Authors:  J L Chuang; R P Cox; D T Chuang
Journal:  J Clin Invest       Date:  1997-08-01       Impact factor: 14.808

4.  Maple syrup urine disease (MSUD): screening for known mutations in Italian patients.

Authors:  T Parrella; S Surrey; A Iolascon; M Sartore; R Heidenreich; G Diamond; A Ponzone; O Guardamagna; A B Burlina; R Cerone
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  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.  Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer.

Authors:  H Koyata; R P Cox; D T Chuang
Journal:  Biochem J       Date:  1993-11-01       Impact factor: 3.857
  6 in total

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