Peroxisome biogenesis disorders.

Mark McIntosh,'s picture
PubMed URL: 
http://www.ncbi.nlm.nih.gov/pubmed/17055079
Author: 
Moser HW
Author List: 
Steinberg SJ
Dodt G
Raymond GV
Braverman NE
Moser AB
Moser HW
Journal: 
Biochim Biophys Acta
PubMed ID: 
17055079
Pagination: 
1733-48
Volume: 
1763
Issue: 
12
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.
Published Date: 
December, 2006

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