MECP2 Mutation Interrupts Nucleolin–mTOR–P70S6K Signaling in Rett Syndrome Patients

Rett syndrome (RTT) is a severe and rare neurological disorder that is caused by mutations in the X-linked MECP2 (methyl CpG-binding protein 2) gene. MeCP2 protein is an important epigenetic factor in the brain and in neurons. In Mecp2-deficient neurons, nucleoli structures are compromised. Nucleoli...

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Detalles Bibliográficos
Autores principales: Olson, Carl O., Pejhan, Shervin, Kroft, Daniel, Sheikholeslami, Kimia, Fuss, David, Buist, Marjorie, Ali Sher, Annan, Del Bigio, Marc R., Sztainberg, Yehezkel, Siu, Victoria Mok, Ang, Lee Cyn, Sabourin-Felix, Marianne, Moss, Tom, Rastegar, Mojgan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305968/
https://www.ncbi.nlm.nih.gov/pubmed/30619462
http://dx.doi.org/10.3389/fgene.2018.00635

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