Peroxisome biogenesis disorders - genetics and cell biology

被引：233

作者：

Gould, SJ ^{[1
]}

Valle, D

机构：

[1] Johns Hopkins Univ, Sch Med, Dept Biol Chem, Baltimore, MD 21205 USA

[2] Johns Hopkins Univ, Sch Med, Dept Cell Biol & Anat, Baltimore, MD 21205 USA

[3] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

[4] Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA

来源：

TRENDS IN GENETICS | 2000年 / 16卷 / 08期

关键词：

D O I：

10.1016/S0168-9525(00)02056-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Zeltweger syndrome, neonatal adrenoleukodyslrophy, 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 PBO cell lines are shaping current models of peroxisome biogenesis.

引用

页码：340 / 345

页数：6

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