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Staufen1 Regulates Multiple Alternative Splicing Events either Positively or Negatively in DM1 Indicating Its Role as a Disease Modifier

Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by an expansion of CUG repeats in the 3' UTR of the DMPK gene. The CUG repeats form aggregates of mutant mRNA, which cause misregulation and/or sequestration of RNA-binding proteins, causing aberrant alternative splicing in cell...

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Detalles Bibliográficos
Autores principales: Bondy-Chorney, Emma, Crawford Parks, Tara E., Ravel-Chapuis, Aymeric, Klinck, Roscoe, Rocheleau, Lynda, Pelchat, Martin, Chabot, Benoit, Jasmin, Bernard J., Côté, Jocelyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733145/
https://www.ncbi.nlm.nih.gov/pubmed/26824521
http://dx.doi.org/10.1371/journal.pgen.1005827