Peroxisome biogenesis disorders: Genetics and cell biology

Research output: Contribution to journalReview articlepeer-review

234 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)340-345
Number of pages6
JournalTrends in Genetics
Issue number8
StatePublished - Aug 1 2000

ASJC Scopus subject areas

  • Genetics


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