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Congenital myotonic dystrophy—an RNA-mediated disease across a developmental continuum

Thomas and colleagues (pp. 1122–1133) demonstrate severe dysregulation of developmentally regulated alternative splicing and polyadenylation in congenital myotonic dystrophy (CDM). In doing so, they also highlight the importance of these post-transcriptional processes during normal fetal muscle deve...

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Detalles Bibliográficos
Autores principales: Jagannathan, Sujatha, Bradley, Robert K.
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/PMC5538429/
https://www.ncbi.nlm.nih.gov/pubmed/28717044
http://dx.doi.org/10.1101/gad.302893.117
Descripción
Sumario:Thomas and colleagues (pp. 1122–1133) demonstrate severe dysregulation of developmentally regulated alternative splicing and polyadenylation in congenital myotonic dystrophy (CDM). In doing so, they also highlight the importance of these post-transcriptional processes during normal fetal muscle development. Finally, they generate and characterize a mouse model of CDM that lacks all three Muscleblind-like proteins.