Loss-of-function of GNAL dystonia gene impairs striatal dopamine receptors-mediated adenylyl cyclase/ cyclic AMP signaling pathway.

Cholinergic interneurons Dopamine Dystonia GNAL Striatum

Journal

Neurobiology of disease
ISSN: 1095-953X
Titre abrégé: Neurobiol Dis
Pays: United States
ID NLM: 9500169

Informations de publication

Date de publication:
03 Jan 2024
Historique:
received: 21 11 2023
revised: 02 01 2024
accepted: 02 01 2024
medline: 6 1 2024
pubmed: 6 1 2024
entrez: 5 1 2024
Statut: aheadofprint

Résumé

Loss-of-function mutations in the GNAL gene are responsible for DYT-GNAL dystonia. However, how GNAL mutations contribute to synaptic dysfunction is still unclear. The GNAL gene encodes the Gα

Identifiants

DOI: 10.1016/j.nbd.2024.106403 PMID: 38182074
pubmed: 38182074
pii: S0969-9961(24)00002-0
doi: 10.1016/j.nbd.2024.106403
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

106403

Informations de copyright

Copyright © 2024. Published by Elsevier Inc.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors report no conflicts of interest.

Auteurs

Ilham El Atiallah (I)

Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.

Giulia Ponterio (G)

Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.

Maria Meringolo (M)

Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy; UniCamillus-Saint Camillus International University of Health Sciences, Rome, Italy.

Giuseppina Martella (G)

Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.

Giuseppe Sciamanna (G)

Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy; UniCamillus-Saint Camillus International University of Health Sciences, Rome, Italy.

Annalisa Tassone (A)

Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.

Martina Montanari (M)

Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.

Maria Mancini (M)

Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; IRCCS Fondazione Mondino, Pavia, Italy.

Antonio N Castagno (AN)

Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; IRCCS Fondazione Mondino, Pavia, Italy.

Libo Yu-Taeger (L)

Department of Human Genetics, Ruhr University Bochum, Germany.

Hoa Huu Phuc Nguyen (HHP)

Department of Human Genetics, Ruhr University Bochum, Germany.

Paola Bonsi (P)

Laboratory of Neurophysiology and Plasticity, IRCCS Fondazione Santa Lucia, Rome, Italy.

Antonio Pisani (A)

Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; IRCCS Fondazione Mondino, Pavia, Italy. Electronic address: antonio.pisani@unipv.it.

Classifications MeSH