AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder

AGAP1 is an Arf1 GAP that regulates endolysosomal trafficking. Damaging variants have been linked to cerebral palsy and autism. We report 3 new individuals with microdeletion variants in AGAP1. Affected individuals have intellectual disability (3/3), autism (3/3), dystonia with axial hypotonia (1/3)...

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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: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915612/
https://www.ncbi.nlm.nih.gov/pubmed/36778426
http://dx.doi.org/10.1101/2023.01.31.526497

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915612/
https://www.ncbi.nlm.nih.gov/pubmed/36778426
http://dx.doi.org/10.1101/2023.01.31.526497

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