Neurodevelopment and early pharmacological interventions in Fragile X Syndrome.

Fragile X syndrome GABA PI3K clinical trials mGluR neurodevelopment pharmacological interventions

Journal

Frontiers in neuroscience
ISSN: 1662-4548
Titre abrégé: Front Neurosci
Pays: Switzerland
ID NLM: 101478481

Informations de publication

Date de publication:
2023
Historique:
received: 28 04 2023
accepted: 17 07 2023
medline: 21 8 2023
pubmed: 21 8 2023
entrez: 21 8 2023
Statut: epublish

Résumé

Fragile X Syndrome (FXS) is a neurodevelopmental disorder and the leading monogenic cause of autism and intellectual disability. For years, several efforts have been made to develop an effective therapeutic approach to phenotypically rescue patients from the disorder, with some even advancing to late phases of clinical trials. Unfortunately, none of these attempts have completely succeeded, bringing urgency to further expand and refocus research on FXS therapeutics. FXS arises at early stages of postnatal development due to the mutation and transcriptional silencing of the Fragile X Messenger Ribonucleoprotein 1 gene (

Identifiants

pubmed: 37599992
doi: 10.3389/fnins.2023.1213410
pmc: PMC10433175
doi:

Banques de données

figshare
['10.6084/m9.figshare.23643210.v1']

Types de publication

Journal Article Review

Langues

eng

Pagination

1213410

Informations de copyright

Copyright © 2023 Milla, Corral, Rivera, Zuñiga, Pino, Nunez-Parra and Cea-Del Rio.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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Auteurs

Luis A Milla (LA)

Centro de Investigacion Biomedica y Aplicada (CIBAP), Escuela de Medicina, Facultad de Ciencias Medicas, Universidad de Santiago de Chile, Santiago, Chile.

Lucia Corral (L)

Laboratorio de Neurofisiopatologia, Centro de Investigacion Biomedica y Aplicada (CIBAP), Escuela de Medicina, Facultad de Ciencias Medicas, Universidad de Santiago de Chile, Santiago, Chile.

Jhanpool Rivera (J)

Laboratorio de Neurofisiopatologia, Centro de Investigacion Biomedica y Aplicada (CIBAP), Escuela de Medicina, Facultad de Ciencias Medicas, Universidad de Santiago de Chile, Santiago, Chile.

Nolberto Zuñiga (N)

Laboratorio de Neurofisiopatologia, Centro de Investigacion Biomedica y Aplicada (CIBAP), Escuela de Medicina, Facultad de Ciencias Medicas, Universidad de Santiago de Chile, Santiago, Chile.

Gabriela Pino (G)

Laboratorio de Neurofisiopatologia, Centro de Investigacion Biomedica y Aplicada (CIBAP), Escuela de Medicina, Facultad de Ciencias Medicas, Universidad de Santiago de Chile, Santiago, Chile.

Alexia Nunez-Parra (A)

Physiology Laboratory, Department of Biology, Faculty of Science, Universidad de Chile, Santiago, Chile.
Cell Physiology Center, Universidad de Chile, Santiago, Chile.

Christian A Cea-Del Rio (CA)

Laboratorio de Neurofisiopatologia, Centro de Investigacion Biomedica y Aplicada (CIBAP), Escuela de Medicina, Facultad de Ciencias Medicas, Universidad de Santiago de Chile, Santiago, Chile.

Classifications MeSH