Literature DB >> 6500555

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

Y Jinno, I Akaboshi, I Matsuda.   

Abstract

The possibility of genetic heterogeneity in maple syrup urine disease was investigated by measuring branched-chain ketoacid dehydrogenase in polyethylene glycol-induced heterokaryons of lymphoid cells. The lymphoid cell lines from five patients with varying forms of the disease were established after incubation with Epstein-Barr virus. The results suggested that there are at least two genetic complementation groups in the disease.

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Year:  1984        PMID： 6500555     DOI： 10.1007/bf00293872

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  16 in total

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Journal:  N Engl J Med       Date:  1965-05-20       Impact factor: 91.245

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Journal:  Biochim Biophys Acta       Date:  1960-09-23

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Authors:  L B Lyons; R P Cox; J Dancis
Journal:  Nature       Date:  1973-06-29       Impact factor: 49.962

4.  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

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Authors:  H W Goedde; E Richter; M Hüfner
Journal:  Humangenetik       Date:  1964

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Authors:  H W Goedde; M Hüfner; F Möhlenbeck; K G Blume
Journal:  Biochim Biophys Acta       Date:  1967-03-15

7.  Maple syrup urine disease: analysis of branched chain ketoacid decarboxylation in cultured fibroblasts.

Authors:  U Wendel; H Wentrup; H W Rüdiger
Journal:  Pediatr Res       Date:  1975-09       Impact factor: 3.756

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.  Maple syrup urine disease: branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts.

Authors:  S D Skaper; D P Molden; J E Seegmiller
Journal:  Biochem Genet       Date:  1976-08       Impact factor: 1.890

10.  Complementation analysis in fibroblasts from eight patients with clinically different forms of citrullinaemia.

Authors:  N G Kennaway; H C Curtis
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982
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  5 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.  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

3.  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

4.  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

5.  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
  5 in total

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