A developmental delay linked missense mutation in Kalirin-7 disrupts protein function and neuronal morphology

The Rac1 guanine exchange factor Kalirin-7 is a key regulator of dendritic spine morphology, LTP and dendritic arborization. Kalirin-7 dysfunction and genetic variation has been extensively linked to various neurodevelopmental and neurodegenerative disorders. Here we characterize a Kalirin-7 missens...

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Detalles Bibliográficos
Autores principales: Parnell, Euan, Voorn, Roos A., Martin-de-Saavedra, M. Dolores, Loizzo, Daniel D., Dos Santos, Marc, Penzes, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9751355/
https://www.ncbi.nlm.nih.gov/pubmed/36533124
http://dx.doi.org/10.3389/fnmol.2022.994513

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9751355/
https://www.ncbi.nlm.nih.gov/pubmed/36533124
http://dx.doi.org/10.3389/fnmol.2022.994513

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