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Deletion of the CTG Expansion in Myotonic Dystrophy Type 1 Reverses <i>DMPK</i> Aberrant Methylation in Human Embryonic Stem Cells but not Affected Myoblasts

2019-05-08

Abstract excerpt

<h4>ABSTRACT</h4> Myotonic dystrophy type 1 (DM1) results from a CTG repeat expansion in the 3’-UTR of DMPK . When the repeat extensively expands, this results in DMPK aberrant methylation, reduction in SIX5 transcription and the development of the congenital form of the disease. To explore whether hypermethylation could be reversed in DM1 embryonic stem cells (hESCs) and patient myoblasts, we monitored methyl...

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Literature Corpus work
842aad99-7dcc-5cdb-8397-302c4ececbde
DOI
10.1101/631457
Open publication

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Deletion of the CTG Expansion in Myotonic Dystrophy Type 1 Reverses <i>DMPK</i> Aberrant Methylation in Human Embryonic Stem Cells but not Affected MyoblastsDOI 10.1101/631457
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