Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics
- 1 September 2008
- journal article
- review article
- Published by Annual Reviews in Annual Review of Genomics and Human Genetics
- Vol. 9 (1), 359-386
- https://doi.org/10.1146/annurev.genom.9.081307.164303
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.Keywords
This publication has 128 references indexed in Scilit:
- An immunoblotting assay to facilitate the molecular diagnosis of Hermansky–Pudlak syndromeMolecular Genetics and Metabolism, 2008
- Melanosomes — dark organelles enlighten endosomal membrane transportNature Reviews Molecular Cell Biology, 2007
- Lysosome-related organelles: driving post-Golgi compartments into specialisationCurrent Opinion in Cell Biology, 2007
- Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4JNature, 2007
- BLOC-1 Is Required for Cargo-specific Sorting from Vacuolar Early Endosomes toward Lysosome-related OrganellesMolecular Biology of the Cell, 2007
- Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius SyndromeAmerican Journal of Human Genetics, 2007
- Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymesThe Journal of cell biology, 2006
- BLOC-1 Interacts with BLOC-2 and the AP-3 Complex to Facilitate Protein Trafficking on EndosomesMolecular Biology of the Cell, 2006
- The endocytic pathway: a mosaic of domainsNature Reviews Molecular Cell Biology, 2001
- The ‘ins’ and ‘outs’ of intermediate filament organizationTrends in Cell Biology, 2000