Literature DB >> 10384395

Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency).

R J Wanders1, P A Mooijer, C Dekker, Y Suzuki, N Shimozawa.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1999        PMID： 10384395     DOI： 10.1023/a:1005504104541

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


× No keyword cloud information.
  17 in total

1.  Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells.

Authors:  S Yajima; Y Suzuki; N Shimozawa; S Yamaguchi; T Orii; Y Fujiki; T Osumi; T Hashimoto; H W Moser
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

2.  Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.

Authors:  N Shimozawa; Y Suzuki; Z Zhang; A Imamura; T Tsukamoto; T Osumi; K Tateishi; K Okumoto; Y Fujiki; T Orii; P G Barth; R J Wanders; N Kondo
Journal:  Biochem Biophys Res Commun       Date:  1998-02-13       Impact factor: 3.575

3.  Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.

Authors:  B T Poll-The; O H Skjeldal; O Stokke; A Poulos; F Demaugre; J M Saudubray
Journal:  Hum Genet       Date:  1989-01       Impact factor: 4.132

4.  Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.

Authors:  N Braverman; G Steel; C Obie; A Moser; H Moser; S J Gould; D Valle
Journal:  Nat Genet       Date:  1997-04       Impact factor: 38.330

5.  Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.

Authors:  A M Motley; E H Hettema; E M Hogenhout; P Brites; A L ten Asbroek; F A Wijburg; F Baas; H S Heijmans; H F Tabak; R J Wanders; B Distel
Journal:  Nat Genet       Date:  1997-04       Impact factor: 38.330

6.  Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.

Authors:  P E Purdue; J W Zhang; M Skoneczny; P B Lazarow
Journal:  Nat Genet       Date:  1997-04       Impact factor: 38.330

7.  Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

Authors:  B E Reuber; E Germain-Lee; C S Collins; J C Morrell; R Ameritunga; H W Moser; D Valle; S J Gould
Journal:  Nat Genet       Date:  1997-12       Impact factor: 38.330

8.  Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.

Authors:  N Shimozawa; Y Suzuki; T Orii; A Moser; H W Moser; R J Wanders
Journal:  Am J Hum Genet       Date:  1993-04       Impact factor: 11.025

9.  Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.

Authors:  G Dodt; N Braverman; C Wong; A Moser; H W Moser; P Watkins; D Valle; S J Gould
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

10.  Differential protein import deficiencies in human peroxisome assembly disorders.

Authors:  A Motley; E Hettema; B Distel; H Tabak
Journal:  J Cell Biol       Date:  1994-05       Impact factor: 10.539
View more
  2 in total

1.  Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

Authors:  C Walter; J Gootjes; P A Mooijer; H Portsteffen; C Klein; H R Waterham; P G Barth; J T Epplen; W H Kunau; R J Wanders; G Dodt
Journal:  Am J Hum Genet       Date:  2001-06-01       Impact factor: 11.025

2.  Rational diagnostic strategy for Zellweger syndrome spectrum patients.

Authors:  Cindy Krause; Hendrik Rosewich; Jutta Gärtner
Journal:  Eur J Hum Genet       Date:  2009-01-14       Impact factor: 4.246
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.