Rab GTPases implicated in inherited and acquired disorders.

Abstract

The endocytotic machinery imports, transports and exports receptors and associated molecules between the plasma membrane and various cytoplasmic chambers resulting in selective recycling, degradation, or secretion of molecules and signaling complexes. Trafficking of receptors, growth factors, nutrients, cytokines, integrins as well as pathogens dictates the kinetics and magnitude of signal transduction cascades. Understandably, alterations in the 'fate' of such cargo complexes have profound physiologic and pathophysiologic implications. Rab GTPases regulate endocytosis by decorating intracellular vesicles and targeting these vesicles along with their cargoes to appropriate subcellular compartments. In the last decade, the number of genetic diseases driven by germline mutations in Rab GTPases or their interacting proteins, has increased and there is growing evidence of aberrant Rab GTPase function in acquired pathophysiologies such as immune deficiency, infection, obesity, diabetes and cancer.

• Authors: Shreya Mitra, Kwai W Cheng, Gordon B Mills
• Journal: Seminars in cell & developmental biology (Semin Cell Dev Biol) Vol. 22 Issue 1 Pg. 57-68 (Feb 2011) ISSN: 1096-3634 [Electronic] England
• PMID: 21147240 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright © 2010 Elsevier Ltd. All rights reserved.

Chemical References

• rab GTP-Binding Proteins

Topics

• Animals
• Biological Transport
• Endocytosis
• Genetic Predisposition to Disease
• Humans
• Mutation
• Transport Vesicles (enzymology)
• rab GTP-Binding Proteins (genetics, metabolism)