Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy

Myotonic dystrophy (DM) of type 1 and 2 (DM1 and DM2) are inherited autosomal dominant diseases caused by dynamic and unstable expanded microsatellite sequences (CTG and CCTG, respectively) in the non-coding regions of the genes DMPK and ZNF9, respectively. These mutations result in the intranuclear...

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Detalles Bibliográficos
Autores principales: Caillet-Boudin, Marie-Laure, Fernandez-Gomez, Francisco-Jose, Tran, Hélène, Dhaenens, Claire-Marie, Buee, Luc, Sergeant, Nicolas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885824/
https://www.ncbi.nlm.nih.gov/pubmed/24409116
http://dx.doi.org/10.3389/fnmol.2013.00057

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