Disorders of lysosome-related organelle biogenesis: Clinical and molecular genetics

被引：282

作者：

Huizing, Marjan ^{[1
]}

Helip-Wooley, Amanda ^{[2
]}

Westbroek, Wendy ^{[2
]}

Gunay-Aygun, Meral ^{[2
]}

Gahl, William A. ^{[2
]}

机构：

[1] NHGRI, Cell Biol Metab Disorders Unit, NIH, Bethesda, MD 20892 USA

[2] NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USA

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS | 2008年 / 9卷

基金：

美国国家卫生研究院;

关键词：

Chediak-Higashi syndrome; Griscelli syndrome; Hermansky-Pudlak syndrome; melanosome; platelet;

D O I：

10.1146/annurev.genom.9.081307.164303

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Lysosome-related organelles (LROs) are a heterogeneous group of vesicles that share various features with lysosomes, but are distinct in function, morphology, and composition. The biogenesis of LROs employs a common machinery, and genetic defects in this machinery can affect all LROs or only an individual LRO, resulting in a variety of clinical features. In this review, we discuss the main components of LRO biogenesis. We also summarize the function, composition, and resident cell types of the major LROs. Finally, we describe the clinical characteristics of the major human LRO disorders.

引用

页码：359 / 386

页数：28

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