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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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2012
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Research Article
Online toegang: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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