CASK loss of function differentially regulates neuronal maturation and synaptic function in human induced cortical excitatory neurons

Loss-of-function (LOF) mutations in CASK cause severe developmental phenotypes, including microcephaly with pontine and cerebellar hypoplasia, X-linked intellectual disability, and autism. Unraveling the pathological mechanisms of CASK-related disorders has been challenging owing to limited human ce...

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Detalles Bibliográficos
Autores principales: McSweeney, Danny, Gabriel, Rafael, Jin, Kang, Pang, Zhiping P., Aronow, Bruce, Pak, ChangHui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9574418/
https://www.ncbi.nlm.nih.gov/pubmed/36262316
http://dx.doi.org/10.1016/j.isci.2022.105187

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9574418/
https://www.ncbi.nlm.nih.gov/pubmed/36262316
http://dx.doi.org/10.1016/j.isci.2022.105187

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