Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily caused by heterozygous loss-of-function mutations in the X-linked gene MECP2 that is a global transcriptional regulator. Mutations in the methyl-CpG binding domain (MBD) of MECP2 disrupt its interaction with methylated DNA. Here,...

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Detalles Bibliográficos
Autores principales: Mok, Rebecca S. F., Zhang, Wenbo, Sheikh, Taimoor I., Pradeepan, Kartik, Fernandes, Isabella R., DeJong, Leah C., Benigno, Gabriel, Hildebrandt, Matthew R., Mufteev, Marat, Rodrigues, Deivid C., Wei, Wei, Piekna, Alina, Liu, Jiajie, Muotri, Alysson R., Vincent, John B., Muller, Lyle, Martinez-Trujillo, Julio, Salter, Michael W., Ellis, James
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9576700/
https://www.ncbi.nlm.nih.gov/pubmed/36253345
http://dx.doi.org/10.1038/s41398-022-02216-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9576700/
https://www.ncbi.nlm.nih.gov/pubmed/36253345
http://dx.doi.org/10.1038/s41398-022-02216-1

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