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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2012
Gaiak:
Research Article
Sarrera elektronikoa: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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