The Emerging Role of Gβ Subunits in Human Genetic Diseases.
Détails
Demande d'une copie Sous embargo indéterminé.
Accès restreint UNIL
Etat: Public
Version: de l'auteur⸱e
Licence: CC BY 4.0
Accès restreint UNIL
Etat: Public
Version: de l'auteur⸱e
Licence: CC BY 4.0
ID Serval
serval:BIB_52988622942B
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
The Emerging Role of Gβ Subunits in Human Genetic Diseases.
Périodique
Cells
ISSN
2073-4409 (Electronic)
ISSN-L
2073-4409
Statut éditorial
Publié
Date de publication
04/12/2019
Peer-reviewed
Oui
Volume
8
Numéro
12
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review
Publication Status: epublish
Publication Status: epublish
Résumé
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.
Mots-clé
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
Oui
Création de la notice
15/12/2019 18:17
Dernière modification de la notice
08/07/2021 6:36