CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations

In fragile X syndrome (FXS), CGG repeat expansion greater than 200 triplets is believed to trigger FMR1 gene silencing and disease etiology. However, FXS siblings have been identified with more than 200 CGGs, termed unmethylated full mutation (UFM) carriers, without gene silencing and disease sympto...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Stem Cell Reports
Autori principali: Brykczynska, Urszula, Pecho-Vrieseling, Eline, Thiemeyer, Anke, Klein, Jessica, Fruh, Isabelle, Doll, Thierry, Manneville, Carole, Fuchs, Sascha, Iazeolla, Mariavittoria, Beibel, Martin, Roma, Guglielmo, Naumann, Ulrike, Kelley, Nicholas, Oakeley, Edward J., Mueller, Matthias, Gomez-Mancilla, Baltazar, Bühler, Marc, Tabolacci, Elisabetta, Chiurazzi, Pietro, Neri, Giovanni, Bouwmeester, Tewis, Di Giorgio, Francesco Paolo, Fodor, Barna D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2016
Soggetti:
Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5161530/
https://ncbi.nlm.nih.gov/pubmed/27840045
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.stemcr.2016.10.004
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi