Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations

BACKGROUND: Nonsense mutations in the X-linked methyl CpG-binding protein 2 (MECP2) comprise a significant proportion of causative MECP2 mutations in Rett syndrome (RTT). Naturally occurring aminoglycosides, such as gentamicin, have been shown to enable partial suppression of nonsense mutations rela...

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Detalhes bibliográficos
Main Authors: Vecsler, Manuela, Ben Zeev, Bruria, Nudelman, Igor, Anikster, Yair, Simon, Amos J., Amariglio, Ninette, Rechavi, Gideon, Baasov, Timor, Gak, Eva
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3113846/
https://ncbi.nlm.nih.gov/pubmed/21695138
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0020733
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