Literature DB >> 8295403

Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata.

Y Suzuki1, N Shimozawa, K Izai, Y Uchida, K Miura, H Akatsuka, M Nagaya, S Yamaguchi, T Orii.   

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Year:  1993        PMID： 8295403     DOI： 10.1007/BF00714280

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


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  11 in total

1.  Immunoblot detection of enzyme proteins of peroxisomal beta-oxidation in fibroblasts, amniocytes, and chorionic villous cells. Possible marker for prenatal diagnosis of Zellweger's syndrome.

Authors:  N Shimozawa; Y Suzuki; T Orii; T Hashimoto
Journal:  Prenat Diagn       Date:  1988-05       Impact factor: 3.050

2.  Heterogeneity of Chondrodysplasia punctata.

Authors:  J W Spranger; J M Opitz; U Bidder
Journal:  Humangenetik       Date:  1971

3.  Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

Authors:  H S Heymans; J W Oorthuys; G Nelck; R J Wanders; R B Schutgens
Journal:  N Engl J Med       Date:  1985-07-18       Impact factor: 91.245

4.  Nonspecific lipid transfer protein (sterol carrier protein-2) defective in patients with deficient peroxisomes.

Authors:  Y Suzuki; S Yamaguchi; T Orii; M Tsuneoka; Y Tashiro
Journal:  Cell Struct Funct       Date:  1990-10       Impact factor: 2.212

5.  Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata.

Authors:  A Balfe; G Hoefler; W W Chen; P A Watkins
Journal:  Pediatr Res       Date:  1990-03       Impact factor: 3.756

6.  Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.

Authors:  R B Schutgens; G J Romeyn; R J Wanders; H van den Bosch; G Schrakamp; H S Heymans
Journal:  Biochem Biophys Res Commun       Date:  1984-04-16       Impact factor: 3.575

7.  Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata.

Authors:  J L Hughes; A Poulos; D I Crane; C W Chow; L J Sheffield; D Sillence
Journal:  Eur J Pediatr       Date:  1992-11       Impact factor: 3.183

8.  Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder.

Authors:  Y Suzuki; N Shimozawa; T Orii; N Igarashi; N Kono; T Hashimoto
Journal:  Clin Chim Acta       Date:  1988-02-29       Impact factor: 3.786

9.  Biochemical abnormalities in rhizomelic chondrodysplasia punctata.

Authors:  G Hoefler; S Hoefler; P A Watkins; W W Chen; A Moser; V Baldwin; B McGillivary; J Charrow; J M Friedman; L Rutledge
Journal:  J Pediatr       Date:  1988-05       Impact factor: 4.406

10.  Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases.

Authors:  Y Suzuki; N Shimozawa; S Yajima; S Yamaguchi; T Orii; T Hashimoto
Journal:  Biochem Pharmacol       Date:  1991-02-01       Impact factor: 5.858
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  1 in total

1.  Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.

Authors:  Jessie C Jacobsen; Emma Glamuzina; Juliet Taylor; Brendan Swan; Shona Handisides; Callum Wilson; Michael Fietz; Tessa van Dijk; Bart Appelhof; Rosamund Hill; Rosemary Marks; Donald R Love; Stephen P Robertson; Russell G Snell; Klaus Lehnert
Journal:  Case Rep Genet       Date:  2015-10-26
  1 in total

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