Peroxisome biogenesis disorders

Steven J. Steinberg, Gabriele Dodt, Gerald V. Raymond, Nancy E. Braverman, Ann B. Moser, Hugo W. Moser

Research output: Contribution to journalReview articlepeer-review

342 Scopus citations

Abstract

Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types-Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP). Biochemical studies performed in blood and urine are used to screen for the PBD. DNA testing is possible for all of the disorders, but is more challenging for the ZSS since 12 PEX genes are known to be associated with this spectrum of PBD. In contrast, PBD-RCDP is associated with defects in the PEX7 gene alone. Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly.

Original languageEnglish (US)
Pages (from-to)1733-1748
Number of pages16
JournalBiochimica et Biophysica Acta - Molecular Cell Research
Volume1763
Issue number12
DOIs
StatePublished - Dec 2006

Keywords

  • Infantile refsum disease
  • Neonatal adrenoleukodystrophy
  • PEX
  • Rhizomelic chondrodysplasia punctata
  • Zellweger syndrome

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