Peroxisome biogenesis disorders: genetics and cell biology.

  • Gould S
  • Valle D
  • Wanders R
 et al. 
  • 1

    Readers

    Mendeley users who have this article in their library.
  • N/A

    Citations

    Citations of this article.

Abstract

Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease and rhizomelic chondrodysplasia punctata are progressive disorders characterized by loss of multiple peroxisomal metabolic functions. These diseases are inherited in an autosomal recessive manner, are caused by defects in the import of peroxisomal matrix proteins and are referred to as the peroxisome biogenesis disorders (PBDs). Recent studies have identified the PEX genes that are mutated in 11 of the 12 known complementation groups of PBD patients. This article reviews these advances in PBD genetics and discusses how studies of human PEX genes, their protein products and PBD cell lines are shaping current models of peroxisome biogenesis.

Author-supplied keywords

  • Cell biology
  • Genetics
  • Import
  • Transport
  • Uptake

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document

Authors

  • S J Gould

  • D Valle

  • R.J. Wanders

  • J.M. Tager

  • T.B. Dansen

  • et al.

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free