Literature DB >> 3597778

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.

Y Indo, A Kitano, F Endo, I Akaboshi, I Matsuda.   

Abstract

Branched-chain alpha-keto acid dehydrogenase (BCKDH) complexes of lymphoblastoid cell lines derived from patients with classical maple syrup urine disease (MSUD) phenotypes were studied in terms of their catalytic functions and analyzed by immunoblotting, using affinity purified anti-bovine BCKDH antibody. Kinetic studies on three cell lines derived from patients with the classical phenotype showed sigmoidal or near sigmoidal kinetics for overall BCKDH activity and a deficiency of the E1 component activity. An immunoblot study revealed a markedly decreased amount of the E1 beta subunit accompanied by weak staining of the E1 alpha subunit. The E2 and E3 component exhibited a cross-reactive peptide. Thus, in at least some patients with MSUD, mutations of the E1 beta subunit might provide an explanation for the altered kinetic properties of the BCKDH complex.

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Year:  1987        PMID： 3597778      PMCID： PMC442202          DOI： 10.1172/JCI113064

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


  40 in total

1.  Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification.

Authors:  L Ho; C W Hu; S Packman; M S Patel
Journal:  J Clin Invest       Date:  1986-09       Impact factor: 14.808

2.  Regulation of mammalian pyruvate and branched-chain alpha-keto acid dehydrogenase complexes by phosphorylation-dephosphorylation.

Authors:  L J Reed; Z Damuni; M L Merryfield
Journal:  Curr Top Cell Regul       Date:  1985

3.  A simple method for producing antibody specific to a single selected diffusible antigen.

Authors:  R B Goudie; C H Horne; P C Wilkinson
Journal:  Lancet       Date:  1966-12-03       Impact factor: 79.321

4.  Enzymic studies on the biosynthesis of serotonin in mammalian brain.

Authors:  A Ichiyama; S Nakamura; Y Nishizuka; O Hayaishi
Journal:  J Biol Chem       Date:  1970-04-10       Impact factor: 5.157

5.  A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.

Authors:  J D Schulman; T J Lustberg; J L Kennedy; M Museles; J E Seegmiller
Journal:  Am J Med       Date:  1970-07       Impact factor: 4.965

6.  Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease.

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

7.  Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease.

Authors:  J Dancis; J Hutzler; T Rokkones
Journal:  N Engl J Med       Date:  1967-01-12       Impact factor: 91.245

8.  Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease.

Authors:  Y Shigematsu; K Kikuchi; T Momoi; M Sudo; Y Kikawa; K Nosaka; M Kuriyama; S Haruki; K Sanada; N Hamano
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

9.  Active-site modification of mammalian pyruvate dehydrogenase by pyridoxal 5'-phosphate.

Authors:  L R Stepp; L J Reed
Journal:  Biochemistry       Date:  1985-12-03       Impact factor: 3.162

10.  Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.

Authors:  D J Danner; N Armstrong; S C Heffelfinger; E T Sewell; J H Priest; L J Elsas
Journal:  J Clin Invest       Date:  1985-03       Impact factor: 14.808
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  15 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

2.  Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes.

Authors:  F Endo; A Tanoue; A Kitano; J Arata; D M Danks; C M Lapière; Y Sei; S K Wadman; I Matsuda
Journal:  J Clin Invest       Date:  1990-01       Impact factor: 14.808

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

Authors:  Y Nobukuni; H Mitsubuchi; I Akaboshi; Y Indo; F Endo; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 4.  Maple syrup urine disease 1954 to 1993.

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

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.  Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.

Authors:  B Zhang; H J Edenberg; D W Crabb; R A Harris
Journal:  J Clin Invest       Date:  1989-04       Impact factor: 14.808

7.  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

8.  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

9.  Mitochondrial import and processing of an in vitro synthesized human prebranched chain acyltransferase fragment.

Authors:  S Litwer; D J Danner
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

10.  Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity.

Authors:  Y Indo; I Akaboshi; Y Nobukuni; F Endo; I Matsuda
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132
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