Peroxisome biogenesis disorders.

TitlePeroxisome biogenesis disorders.
Publication TypeJournal Article
Year of Publication2006
AuthorsSteinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW
JournalBiochimica et biophysica acta
Volume1763
Issue12
Pagination1733-48
Date Published2006 Dec
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.

DOI10.1371/journal.pone.0064024
Alternate JournalBiochim. Biophys. Acta