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 th...

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Veröffentlicht in:	PLoS genetics 2012-11, Vol.8 (11), p.e1003043
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Biology Cell Nucleus - metabolism Cellular Biology Defects Development and progression Endopeptidases - metabolism Experiments Gene expression Gene Expression Regulation Genetic aspects Health aspects Heart Humans Kinases Life Sciences Mice Mice, Transgenic Molecular genetics Mortality Muscle, Skeletal - growth & development Muscle, Skeletal - physiopathology Myotonic dystrophy Myotonic Dystrophy - genetics Myotonic Dystrophy - physiopathology Myotonin-Protein Kinase Physiological aspects Protein kinases Protein-Serine-Threonine Kinases - genetics Protein-Serine-Threonine Kinases - metabolism Proteins RNA Splicing Rodents Translocation (Genetics) Trinucleotide Repeat Expansion - genetics
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