Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying >1,000 CTG Repeats from the Human DM1 Locus

Myotonic dystrophy type 1 (DM1) is caused by an unstable CTG repeat expansion in the 3′UTR of the DM protein kinase (DMPK) gene. DMPK transcripts carrying CUG expansions form nuclear foci and affect splicing regulation of various RNA transcripts. Furthermore, bidirectional transcription over the DMP...

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Main Authors: Huguet, Aline, Medja, Fadia, Nicole, Annie, Vignaud, Alban, Guiraud-Dogan, Céline, Ferry, Arnaud, Decostre, Valérie, Hogrel, Jean-Yves, Metzger, Friedrich, Hoeflich, Andreas, Baraibar, Martin, Gomes-Pereira, Mário, Puymirat, Jack, Bassez, Guillaume, Furling, Denis, Munnich, Arnold, Gourdon, Geneviève
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2012
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3510028/
https://ncbi.nlm.nih.gov/pubmed/23209425
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003043
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