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    Annu Rev Genomics Hum Genet. 2008;9:359-86.

    Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.

    Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA.

    Cell Biology of Metabolic Disorders Unit, National Institutes of Health, Bethesda, Maryland 20892, USA. mhuizing@mail.nih.gov

    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.

    PMID: 18544035 [PubMed - indexed for MEDLINE]

    PMCID: 2755194

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