Peroxisome biogenesis disorders: Genetics and cell biology

Stephen J. Gould; David Valle

doi:10.1016/S0168-9525(00)02056-4

Peroxisome biogenesis disorders: Genetics and cell biology

Stephen J. Gould, David Valle

School of Medicine

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

234 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	340-345
Number of pages	6
Journal	Trends in Genetics
Volume	16
Issue number	8
DOIs	https://doi.org/10.1016/S0168-9525(00)02056-4
State	Published - Aug 1 2000

ASJC Scopus subject areas

Genetics

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10.1016/S0168-9525(00)02056-4

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title = "Peroxisome biogenesis disorders: Genetics and cell biology",

abstract = "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.",

author = "Gould, {Stephen J.} and David Valle",

note = "Funding Information: S.J.G. is supported by NIH grants DK45787 and HD10981. D.V. is an Investigator of the Howard Hughes Medical Institution. We thank C. Collins and K. Sacksteder for help in preparing the figures and table. Copyright: Copyright 2007 Elsevier B.V., All rights reserved.",

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AU - Gould, Stephen J.

AU - Valle, David

N1 - Funding Information: S.J.G. is supported by NIH grants DK45787 and HD10981. D.V. is an Investigator of the Howard Hughes Medical Institution. We thank C. Collins and K. Sacksteder for help in preparing the figures and table. Copyright: Copyright 2007 Elsevier B.V., All rights reserved.

PY - 2000/8/1

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N2 - 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.

AB - 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.

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JO - Trends in Genetics

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Peroxisome biogenesis disorders: Genetics and cell biology

Abstract

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