Literature DB >> 1359192

Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase.

T Fukao1, S Yamaguchi, A Wakazono, H Okamoto, T Orii, T Osumi, T Hashimoto.   

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Year:  1992        PMID： 1359192     DOI： 10.1007/bf01800027

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


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  13 in total

1.  Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency.

Authors:  T Fukao; S Yamaguchi; S Tomatsu; T Orii; G Frauendienst-Egger; L Schrod; T Osumi; T Hashimoto
Journal:  Biochem Biophys Res Commun       Date:  1991-08-30       Impact factor: 3.575

2.  Efficient selection for high-expression transfectants with a novel eukaryotic vector.

Authors:  H Niwa; K Yamamura; J Miyazaki
Journal:  Gene       Date:  1991-12-15       Impact factor: 3.688

3.  Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency.

Authors:  H Nagasawa; S Yamaguchi; T Orii; R B Schutgens; L Sweetman; T Hashimoto
Journal:  Pediatr Res       Date:  1989-08       Impact factor: 3.756

4.  The oxoacyl-coenzyme A thiolases of animal tissues.

Authors:  B Middleton
Journal:  Biochem J       Date:  1973-04       Impact factor: 3.857

5.  A "new" disorder of isoleucine catabolism.

Authors:  R S Daum; P H Lamm; O A Mamer; C R Scriver
Journal:  Lancet       Date:  1971-12-11       Impact factor: 79.321

6.  Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism.

Authors:  B H Robinson; W G Sherwood; J Taylor; J W Balfe; O A Mamer
Journal:  J Pediatr       Date:  1979-08       Impact factor: 4.406

7.  Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.

Authors:  T Fukao; S Yamaguchi; T Orii; R B Schutgens; T Osumi; T Hashimoto
Journal:  J Clin Invest       Date:  1992-02       Impact factor: 14.808

8.  Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.

Authors:  S Yamaguchi; T Orii; N Sakura; S Miyazawa; T Hashimoto
Journal:  J Clin Invest       Date:  1988-03       Impact factor: 14.808

9.  Optimization of electroporation for transfection of human fibroblast cell lines with origin-defective SV40 DNA: development of human transformed fibroblast cell lines with mucopolysaccharidoses (I-VII)

Authors:  H Okamoto; K Sukegawa; S Tomatsu; Y Suzuki; T Orii
Journal:  Cell Struct Funct       Date:  1992-04       Impact factor: 2.212

10.  Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.

Authors:  T Fukao; S Yamaguchi; M Kano; T Orii; Y Fujiki; T Osumi; T Hashimoto
Journal:  J Clin Invest       Date:  1990-12       Impact factor: 14.808
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  1 in total

1.  Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency.

Authors:  T Fukao; S Yamaguchi; A Wakazono; T Orii; G Hoganson; T Hashimoto
Journal:  J Clin Invest       Date:  1994-03       Impact factor: 14.808
  1 in total

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