Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders.

animal model collapsin response mediator proteins dihydropyrimidinase-like proteins human genetics research missense variants neurodevelopmental disorders (NDDs) neuronal development synaptic physiopathology

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: 30 01 2023
accepted: 15 03 2023
medline: 5 5 2023
pubmed: 5 5 2023
entrez: 5 5 2023
Statut: epublish

Résumé

The dihydropyrimidinase-like (DPYSL) proteins, also designated as the collapsin response mediators (CRMP) proteins, constitute a family of five cytosolic phosphoproteins abundantly expressed in the developing nervous system but down-regulated in the adult mouse brain. The DPYSL proteins were initially identified as effectors of semaphorin 3A (Sema3A) signaling and consequently involved in regulation of growth cone collapse in young developing neurons. To date, it has been established that DPYSL proteins mediate signals for numerous intracellular/extracellular pathways and play major roles in variety of cellular process including cell migration, neurite extension, axonal guidance, dendritic spine development and synaptic plasticity through their phosphorylation status. The roles of DPYSL proteins at early stages of brain development have been described in the past years, particularly for DPYSL2 and DPYSL5 proteins. The recent characterization of pathogenic genetic variants in

Identifiants

pubmed: 37144098
doi: 10.3389/fnins.2023.1154446
pmc: PMC10153444
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

1154446

Informations de copyright

Copyright © 2023 Desprez, Ung, Vourc’h, Jeanne and Laumonnier.

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

Florence Desprez (F)

UMR1253, iBrain, Inserm, University of Tours, Tours, France.

Dévina C Ung (DC)

UMR1253, iBrain, Inserm, University of Tours, Tours, France.

Patrick Vourc'h (P)

UMR1253, iBrain, Inserm, University of Tours, Tours, France.
Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.
Laboratoire de Biochimie et de Biologie Moléculaire, Centre Hospitalier Régional Universitaire, Tours, France.

Médéric Jeanne (M)

UMR1253, iBrain, Inserm, University of Tours, Tours, France.
Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.

Frédéric Laumonnier (F)

UMR1253, iBrain, Inserm, University of Tours, Tours, France.
Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.

Classifications MeSH