Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats
نویسندگان
چکیده
منابع مشابه
Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats.
Myotonic dystrophy (DM) type 1 is caused by an expansion of a CTG repeat in the DMPK gene and type 2 by a CCTG repeat in the ZNF9 gene. Previous reports have suggested that transcripts containing expanded CUG/CCUG repeats might have toxic gain-of-function effects, probably affecting the function of RNA-binding proteins in the pathogenesis of DM. Here, it was attempted to compare the RNA-binding...
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Myotonic Dystrophy (DM), the most common form of adult-onset muscular dystrophy, comprises at least 2 sub-types, DM1 and DM2. DM1 is caused by the expansion of a CTG repeat located in the 3’ untranslated region (3’UTR) of the DM protein kinase (DMPK) gene. Recently, the expansion of a CCTG tetranucleotide repeat located in the intron of the ZNF9 gene was identified as the mutation responsible f...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2004
ISSN: 1460-2083
DOI: 10.1093/hmg/ddh056