Peroxisome biogenesis disorders

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

doi:10.1016/j.bbamcr.2006.09.010

Peroxisome biogenesis disorders

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

Research output: Contribution to journal › Review article › peer-review

419 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 language	English (US)
Pages (from-to)	1733-1748
Number of pages	16
Journal	Biochimica et Biophysica Acta - Molecular Cell Research
Volume	1763
Issue number	12
DOIs	https://doi.org/10.1016/j.bbamcr.2006.09.010
State	Published - Dec 2006
Externally published	Yes

Keywords

Infantile refsum disease
Neonatal adrenoleukodystrophy
PEX
Rhizomelic chondrodysplasia punctata
Zellweger syndrome

Access

10.1016/j.bbamcr.2006.09.010

OpenUrl availability

Full text

Cite this

@article{af2de4f2c9c9424ca68361e6bc8ca1d5,

title = "Peroxisome biogenesis disorders",

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.",

keywords = "Infantile refsum disease, Neonatal adrenoleukodystrophy, PEX, Rhizomelic chondrodysplasia punctata, Zellweger syndrome",

author = "Steinberg, {Steven J.} and Gabriele Dodt and Raymond, {Gerald V.} and Braverman, {Nancy E.} and Moser, {Ann B.} and Moser, {Hugo W.}",

year = "2006",

month = dec,

doi = "10.1016/j.bbamcr.2006.09.010",

language = "English (US)",

volume = "1763",

pages = "1733--1748",

journal = "Biochimica et Biophysica Acta - Molecular Cell Research",

issn = "0167-4889",

publisher = "Elsevier",

number = "12",

}

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 -

Peroxisome biogenesis disorders

Abstract

Keywords

Access

OpenUrl availability

Other files and links

Fingerprint

Cite this