Literature DB >> 7562283

Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.

A Poulos1, J Christodoulou, C W Chow, J Goldblatt, B C Paton, T Orii, Y Suzuki, N Shimozawa.   

Abstract

We describe the clinical, pathologic, and biochemical findings for two peroxisome-deficient patients in a newly identified complementation group. Both patients had biochemical findings typical of patients with peroxisome biogenesis disorders. However, whereas one patient had the typical clinicopathologic features of Zellweger syndrome, the other patient's phenotype was atypical.

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Year:  1995        PMID： 7562283     DOI： 10.1016/s0022-3476(95)70121-4

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  14 in total

Review 1.  Zellweger syndrome and associated phenotypes.

Authors:  D R FitzPatrick
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

Review 2.  Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.

Authors:  Y Suzuki; N Shimozawa; A Imamura; S Fukuda; Z Zhang; T Orii; N Kondo
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

3.  Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.

Authors:  A C Muntau; P U Mayerhofer; B C Paton; S Kammerer; A A Roscher
Journal:  Am J Hum Genet       Date:  2000-08-24       Impact factor: 11.025

Review 4.  On the molecular etiology of decreased arachidonic (20:4n-6), docosapentaenoic (22:5n-6) and docosahexaenoic (22:6n-3) acids in Zellweger syndrome and other peroxisomal disorders.

Authors:  J P Infante; V A Huszagh
Journal:  Mol Cell Biochem       Date:  1997-03       Impact factor: 3.396

5.  The peroxin pex3p initiates membrane assembly in peroxisome biogenesis.

Authors:  K Ghaedi; S Tamura; K Okumoto; Y Matsuzono; Y Fujiki
Journal:  Mol Biol Cell       Date:  2000-06       Impact factor: 4.138

6.  PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.

Authors:  K Ghaedi; M Honsho; N Shimozawa; Y Suzuki; N Kondo; Y Fujiki
Journal:  Am J Hum Genet       Date:  2000-08-31       Impact factor: 11.025

7.  Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.

Authors:  S Tamura; K Okumoto; R Toyama; N Shimozawa; T Tsukamoto; Y Suzuki; T Osumi; N Kondo; Y Fujiki
Journal:  Proc Natl Acad Sci U S A       Date:  1998-04-14       Impact factor: 11.205

8.  Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

Authors:  M Honsho; S Tamura; N Shimozawa; Y Suzuki; N Kondo; Y Fujiki
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

9.  Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects.

Authors:  B C Paton; P C Sharp; D I Crane; A Poulos
Journal:  J Clin Invest       Date:  1996-02-01       Impact factor: 14.808

10.  PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.

Authors:  K Okumoto; N Shimozawa; A Kawai; S Tamura; T Tsukamoto; T Osumi; H Moser; R J Wanders; Y Suzuki; N Kondo; Y Fujiki
Journal:  Mol Cell Biol       Date:  1998-07       Impact factor: 4.272
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