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Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2008-01-01 , DOI: 10.1146/annurev.genom.9.081307.164303
Marjan Huizing 1 , Amanda Helip-Wooley , Wendy Westbroek , Meral Gunay-Aygun , William A Gahl
Affiliation  

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.

中文翻译:

溶酶体相关细胞器生物发生障碍:临床和分子遗传学。

溶酶体相关细胞器 (LRO) 是一组异质的囊泡,它们与溶酶体具有多种特征,但在功能、形态和组成上有所不同。LRO 的生物发生采用一个共同的机制,该机制的遗传缺陷可以影响所有 LRO 或仅影响单个 LRO,从而导致各种临床特征。在这篇综述中,我们讨论了 LRO 生物发生的主要组成部分。我们还总结了主要 LRO 的功能、组成和常驻细胞类型。最后,我们描述了主要人类 LRO 疾病的临床特征。
更新日期:2019-11-01
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