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Abstract
Annual Review of Genomics and Human Genetics
Vol. 9: 359-386 (Volume publication date September 2008)
(doi:10.1146/annurev.genom.9.081307.164303)
First published online as a Review in Advance on June 10, 2008
Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics*

Marjan Huizing,1 ­Amanda Helip-Wooley,2 ­Wendy Westbroek,2 ­Meral Gunay-Aygun,2 and ­William A. Gahl2­
1Cell Biology of Metabolic Disorders Unit, National Institutes of Health, Bethesda, Maryland 20892; email:
2Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892; email: ; ; ;

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.

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Authors:
Marjan Huizing
Amanda Helip-Wooley
Wendy Westbroek
Meral Gunay-Aygun
William A. Gahl
Keywords:
Chediak-Higashi syndrome
Griscelli syndrome
Hermansky-Pudlak syndrome
melanosome
platelet

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