The Emerging Role of Gβ Subunits in Human Genetic Diseases.

Details

Ressource 1Request a copy Sous embargo indéterminé.
State: Public
Version: author
License: CC BY 4.0
Serval ID
serval:BIB_52988622942B
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
The Emerging Role of Gβ Subunits in Human Genetic Diseases.
Journal
Cells
Author(s)
Malerba N., De Nittis P., Merla G.
ISSN
2073-4409 (Electronic)
ISSN-L
2073-4409
Publication state
Published
Issued date
04/12/2019
Peer-reviewed
Oui
Volume
8
Number
12
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review
Publication Status: epublish
Abstract
Environmental stimuli are perceived and transduced inside the cell through the activation of signaling pathways. One common type of cell signaling transduction network is initiated by G-proteins. G-proteins are activated by G-protein-coupled receptors (GPCRs) and transmit signals from hormones, neurotransmitters, and other signaling factors, thus controlling a number of biological processes that include synaptic transmission, visual photoreception, hormone and growth factors release, regulation of cell contraction and migration, as well as cell growth and differentiation. G-proteins mainly act as heterotrimeric complexes, composed of alpha, beta, and gamma subunits. In the last few years, whole exome sequencing and biochemical studies have shown causality of disease-causing variants in genes encoding G-proteins and human genetic diseases. This review focuses on the G-protein β subunits and their emerging role in the etiology of genetically inherited rare diseases in humans.
Keywords
GTP-Binding Protein beta Subunits/chemistry, GTP-Binding Protein beta Subunits/genetics, GTP-Binding Protein beta Subunits/metabolism, Genetic Diseases, Inborn/genetics, Genetic Diseases, Inborn/metabolism, Humans, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/metabolism, Signal Transduction, heterotrimeric G-proteins, human genetic diseases, neurodevelopmental disorders, β subunits
Pubmed
Web of science
Open Access
Yes
Create date
15/12/2019 17:17
Last modification date
08/07/2021 5:36
Usage data