Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants

Rett syndrome caused by MECP2 variants is characterized by a heterogenous clinical spectrum accounted for in 60% of cases by hot-spot variants. Focusing on the most frequent variants, we generated in vitro iPSC-neurons from the blood of RTT girls with p.Arg133Cys and p.Arg255*, associated to mild an...

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Detalles Bibliográficos
Autores principales: Perego, Sara, Alari, Valentina, Pietra, Gianluca, Lamperti, Andrea, Vimercati, Alessandro, Camporeale, Nicole, Garzo, Maria, Cogliati, Francesca, Milani, Donatella, Vignoli, Aglaia, Peron, Angela, Larizza, Lidia, Pizzorusso, Tommaso, Russo, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9697612/
https://www.ncbi.nlm.nih.gov/pubmed/36430969
http://dx.doi.org/10.3390/ijms232214491

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