TY - JOUR
T1 - Peroxisome biogenesis disorders
AU - Steinberg, Steven J.
AU - Dodt, Gabriele
AU - Raymond, Gerald V.
AU - Braverman, Nancy E.
AU - Moser, Ann B.
AU - Moser, Hugo W.
PY - 2006/12
Y1 - 2006/12
N2 - 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.
AB - 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.
KW - Infantile refsum disease
KW - Neonatal adrenoleukodystrophy
KW - PEX
KW - Rhizomelic chondrodysplasia punctata
KW - Zellweger syndrome
UR - http://www.scopus.com/inward/record.url?scp=33845336846&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33845336846&partnerID=8YFLogxK
U2 - 10.1016/j.bbamcr.2006.09.010
DO - 10.1016/j.bbamcr.2006.09.010
M3 - Review article
C2 - 17055079
AN - SCOPUS:33845336846
SN - 0167-4889
VL - 1763
SP - 1733
EP - 1748
JO - Biochimica et Biophysica Acta - Molecular Cell Research
JF - Biochimica et Biophysica Acta - Molecular Cell Research
IS - 12
ER -