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Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects

Variations in PAK3, a gene located on the X chromosome, are known to contribute to intellectual disability (ID) and are associated with a broad clinical spectrum. The correlation between genotype and phenotype in PAK3-related disorders remains incompletely understood. In this study, we focused on th...

Deskribapen osoa

Gorde:
Egile Nagusiak: Manon Dobrigna, Sandrine Poëa-Guyon, Mathieu Legras, Delphine Le Verger, Kevin Duarte, Catherine Sébrié, Roseline Poirier, Sylvie Granon, Serge Marty, Annick Toutain, Glenn Dallérac, Cyrille Vaillend, Jean-Vianney Barnier
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2025-12-01
Saila:Neurobiology of Disease
Gaiak:
Intellectual disability
Mouse knock-in
Genotype/phenotype correlation
Microcephaly
PAK3-R67C
Sarrera elektronikoa:http://www.sciencedirect.com/science/article/pii/S096999612500405X
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