Annual review of genomics and human genetics, 2008-01, Vol.9 (1), p.359-386
2008
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Details
- Autor(en) / Beteiligte
- Titel
- Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics
- Ist Teil von
- Annual review of genomics and human genetics, 2008-01, Vol.9 (1), p.359-386
- Ort / Verlag
- United States
- Erscheinungsjahr
- 2008
- Quelle
- Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1527-8204eISSN: 1545-293XDOI: 10.1146/annurev.genom.9.081307.164303Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2755194
- Format
- –
- Schlagworte
- Animals, Chediak-Higashi Syndrome - genetics, Genetic Diseases, Inborn - genetics, Hermanski-Pudlak Syndrome - genetics, Humans, Hypopigmentation - genetics, Lymphohistiocytosis, Hemophagocytic - genetics, Lysosomes - genetics, Lysosomes - physiology, Models, Biological, Molecular Biology, Organelles - genetics, Organelles - physiology