Literature DB >> 1664011

Maple syrup urine disease: clinical and biochemical significance of gene analysis.

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

Abstract

Entities:  

Mesh：

Substances：

Year:  1991        PMID： 1664011     DOI： 10.1007/bf01799951

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


× No keyword cloud information.
  23 in total

Review 1.  The 2-oxo acid dehydrogenase complexes: recent advances.

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

2.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

3.  Enzyme activity in classical and variant forms of maple syrup urine disease.

Authors:  J Dancis; J Hutzler; S E Snyderman; R P Cox
Journal:  J Pediatr       Date:  1972-08       Impact factor: 4.406

4.  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.

Authors:  I Matsuda; Y Nobukuni; H Mitsubuchi; Y Indo; F Endo; J Asaka; A Harada
Journal:  Biochem Biophys Res Commun       Date:  1990-10-30       Impact factor: 3.575

5.  Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region.

Authors:  H Mitsubuchi; Y Nobukuni; I Akaboshi; Y Indo; F Endo; I Matsuda
Journal:  J Clin Invest       Date:  1991-04       Impact factor: 14.808

6.  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

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.  Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity.

Authors:  Y Jinno; I Akaboshi; T Katsuki; I Matsuda
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  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

10.  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
View more
  2 in total

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

Authors:  Y Nobukuni; H Mitsubuchi; K Ohta; I Akaboshi; Y Indo; F Endo; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

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
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.