A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels

Loss-of-function mutations in MECP2 cause Rett syndrome (RTT), a severe neurological disorder that mainly affects girls. Mutations in MECP2 do occur in males occasionally and typically cause severe encephalopathy and premature lethality. Recently, we identified a missense mutation (c.353G>A, p.Gl...

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Detalles Bibliográficos
Autores principales: Zhou, Jian, Cattoglio, Claudia, Shao, Yingyao, Tirumala, Harini P., Vetralla, Carlo, Bajikar, Sameer S., Li, Yan, Chen, Hu, Wang, Qi, Wu, Zhenyu, Tang, Bing, Zahabiyon, Mahla, Bajic, Aleksandar, Meng, Xiangling, Ferrie, Jack J., LaGrone, Anel, Zhang, Ping, Kim, Jean J., Tang, Jianrong, Liu, Zhandong, Darzacq, Xavier, Heintz, Nathaniel, Tjian, Robert, Zoghbi, Huda Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2023
Materias:
Research Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10691473/
https://www.ncbi.nlm.nih.gov/pubmed/37890975
http://dx.doi.org/10.1101/gad.350733.123

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10691473/
https://www.ncbi.nlm.nih.gov/pubmed/37890975
http://dx.doi.org/10.1101/gad.350733.123

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