Literature DB >> 1434524

Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.

Y Nobukuni1, H Mitsubuchi, K Ohta, I Akaboshi, Y Indo, F Endo, I Matsuda.   

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Year:  1992        PMID： 1434524     DOI： 10.1007/bf01800029

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  29 in total

1.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors:  M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

2.  Molecular cloning of a cDNA for the E1 alpha subunit of rat liver branched chain alpha-ketoacid dehydrogenase.

Authors:  B Zhang; M J Kuntz; G W Goodwin; R A Harris; D W Crabb
Journal:  J Biol Chem       Date:  1987-11-05       Impact factor: 5.157

3.  Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes.

Authors:  G Pons; C Raefsky-Estrin; D J Carothers; R A Pepin; A A Javed; B W Jesse; M K Ganapathi; D Samols; M S Patel
Journal:  Proc Natl Acad Sci U S A       Date:  1988-03       Impact factor: 11.205

4.  Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.

Authors:  N Dariush; C W Fisher; R P Cox; D T Chuang
Journal:  FEBS Lett       Date:  1991-06-17       Impact factor: 4.124

5.  Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.

Authors:  Y Nobukuni; H Mitsubuchi; I Akaboshi; Y Indo; F Endo; A Yoshioka; I Matsuda
Journal:  J Clin Invest       Date:  1991-05       Impact factor: 14.808

6.  Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification.

Authors:  H Mitsubuchi; I Matsuda; Y Nobukuni; R Heidenreich; Y Indo; F Endo; J Mallee; S Segal
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

7.  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

8.  Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.

Authors:  Y Indo; A Kitano; F Endo; I Akaboshi; I Matsuda
Journal:  J Clin Invest       Date:  1987-07       Impact factor: 14.808

9.  Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase.

Authors:  B Zhang; D W Crabb; R A Harris
Journal:  Gene       Date:  1988-09-15       Impact factor: 3.688

10.  Identification of the second subunit of the murine interleukin-5 receptor: interleukin-3 receptor-like protein, AIC2B is a component of the high affinity interleukin-5 receptor.

Authors:  S Takaki; S Mita; T Kitamura; S Yonehara; N Yamaguchi; A Tominaga; A Miyajima; K Takatsu
Journal:  EMBO J       Date:  1991-10       Impact factor: 11.598
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