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Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy

Myotonic dystrophy type 1 (DM1) is a CTG microsatellite expansion (CTG(exp)) disorder caused by expression of CUG(exp) RNAs. These mutant RNAs alter the activities of RNA processing factors, including MBNL proteins, leading to re-expression of fetal isoforms in adult tissues and DM1 pathology. While...

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Detalles Bibliográficos
Autores principales: Thomas, James D., Sznajder, Łukasz J., Bardhi, Olgert, Aslam, Faaiq N., Anastasiadis, Zacharias P., Scotti, Marina M., Nishino, Ichizo, Nakamori, Masayuki, Wang, Eric T., Swanson, Maurice S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538435/
https://www.ncbi.nlm.nih.gov/pubmed/28698297
http://dx.doi.org/10.1101/gad.300590.117