Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate

Rett Syndrome (RTT) is a neurodevelopmental disorder caused by pathogenic variants in the MECP2 gene. While the majority of RTT-causing variants are clustered in the methyl-CpG binding domain and NCoR/SMRT interaction domain, we report a female patient with a functionally uncharacterized MECP2 varia...

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Detalles Bibliográficos
Autores principales: Chai, Yue, Lee, Sharon Shui Ying, Shillington, Amelle, Du, Xiaoli, Fok, Catalina Ka Man, Yeung, Kam Chun, Siu, Gavin Ka Yu, Yuan, Shiyang, Zheng, Zhongyu, Tsang, Hayley Wing Sum, Gu, Shen, Chen, Yu, Ye, Tao, Ip, Jacque Pak Kan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10562907/
https://www.ncbi.nlm.nih.gov/pubmed/37822516
http://dx.doi.org/10.1016/j.ibneur.2023.09.007

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