Emerging role of Cdc42-specific guanine nucleotide exchange factors as regulators of membrane trafficking in health and disease.

Autor: Egorov MV; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy. Electronic address: mihvegorov@gmail.com., Polishchuk RS; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy. Electronic address: polish@tigem.it.
Jazyk: angličtina
Zdroj: Tissue & cell [Tissue Cell] 2017 Apr; Vol. 49 (2 Pt A), pp. 157-162. Date of Electronic Publication: 2016 Oct 19.
DOI: 10.1016/j.tice.2016.10.002
Abstrakt: It is widely accepted that the Golgi complex operates as a main sorting station in the biosynthetic pathway. On the other hand, the Golgi complex harbors numerous signaling molecules that generate the platform for the coordination of the transduction of specific signals and of membrane transport events. A part of these processes, which require the complex integration of transport-, cytoskeleton- and polarity-associated mechanisms, is tightly regulated by molecular machineries comprising guanine nucleotide exchange factors (GEF) and their down-stream effectors, such as the small GTPase Cdc42. Dysfunction of several Cdc42-specific GEFs has been shown to cause a number of human diseases, which are associated with impaired intracellular trafficking at the level of the Golgi complex as well as in other compartments. Here we briefly overview how mutations in Cdc42-specific GEFs have an impact on the organization of intracellular trafficking fluxes and how such trafficking aberrations could be associated with a number of human disorders.
(Copyright © 2016 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE