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

Marjan Huizing, Amanda Helip-Wooley, Wendy Westbroek, Meral Gunay-Aygun, William A. Gahl

Research output: Contribution to journalReview articlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)359-386
Number of pages28
JournalAnnual Review of Genomics and Human Genetics
Volume9
DOIs
StatePublished - 2008
Externally publishedYes

Keywords

  • Chediak-Higashi syndrome
  • Griscelli syndrome
  • Hermansky-Pudlak syndrome
  • Melanosome
  • Platelet

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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