Literature DB >> 9686382

Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.

P Brites1, A Motley, E Hogenhout, E Hettema, F Wijburg, H S Heijmans, H F Tabak, B Distel, R J Wanders.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9686382     DOI： 10.1023/a:1005301112923

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


× No keyword cloud information.
  6 in total

1.  Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.

Authors:  J A Smeitink; F A Beemer; M Espeel; R A Donckerwolcke; C Jakobs; R J Wanders; R B Schutgens; F Roels; M Duran; L Dorland
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 2.  How proteins penetrate peroxisomes.

Authors:  R A Rachubinski; S Subramani
Journal:  Cell       Date:  1995-11-17       Impact factor: 41.582

3.  Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study.

Authors:  J C Heikoop; R J Wanders; A Strijland; R Purvis; R B Schutgens; J M Tager
Journal:  Hum Genet       Date:  1992-06       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
  6 in total
  2 in total

Review 1.  Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.

Authors:  P E Purdue; M Skoneczny; X Yang; J W Zhang; P B Lazarow
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

2.  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
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.