AGAP1-associated endolysosomal trafficking abnormalities link gene–environment interactions in neurodevelopmental disorders

AGAP1 is an Arf1 GTPase-activating protein that regulates endolysosomal trafficking. Damaging variants have been linked to cerebral palsy and autism. We report three new cases in which individuals had microdeletion variants in AGAP1. The affected individuals had intellectual disability (3/3), autism...

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Detalles Bibliográficos
Autores principales: Lewis, Sara A., Bakhtiari, Somayeh, Forstrom, Jacob, Bayat, Allan, Bilan, Frédéric, Le Guyader, Gwenaël, Alkhunaizi, Ebba, Vernon, Hilary, Padilla-Lopez, Sergio R., Kruer, Michael C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10548112/
https://www.ncbi.nlm.nih.gov/pubmed/37470098
http://dx.doi.org/10.1242/dmm.049838

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