The Emerging Role of Gβ Subunits in Human Genetic Diseases.

Détails

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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
Auteur⸱e⸱s
Malerba N., De Nittis P., Merla G.
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
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
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