Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice
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منابع مشابه
Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults and as yet no cure for DM1. Here, we report the potential of manumycin A for a novel DM1 therapeutic reagent. DM1 is caused by expansion of CTG repeat. Mutant transcripts containing expanded CUG repeats lead to aberrant regulation of alternative splicing. Myotonia (delayed muscle relaxation) is the most commonly obs...
متن کاملNew nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC).
Neurology (DM1) New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 This information is current as of September 4, 2010 http://www.neurology.org/cgi/content/full/54/6/1218 located on the World Wide Web at: The online version of this article, along with updated information and services, is All rights reserved. Print ISSN: 0028-3878. Online ISSN: 1526-632X. since 1951, it is...
متن کاملMyotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is a distal myopathy and a multisystem disease occurring with an incidence of 1/8000, as a result of a CTG trinucleotide repeat expansion in the serinetreonine-protein kinase (DMPK) coding gene on chromosome 19q13.3. In DM1 patients the length of the CTG expansion ranges from 50 to 4000. Disease severity correlates with repeat length and the phenomenon of genetic...
متن کاملDevelopment of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG triplet repeat in the 3' untranslated region of the DMPK gene that encodes a serine-threonine kinase. Patients with larger repeats tend to have a more severe phenotype. Clinical laboratories require reference and quality control materials for DM1 diagnostic and carrier genetic testing. Well-characterized reference materials are not...
متن کاملCorrection: Genome Wide Identification of Aberrant Alternative Splicing Events in Myotonic Dystrophy Type 2
Myotonic dystrophy type 2 (DM2) is a genetic, autosomal dominant disease due to expansion of tetraplet (CCTG) repetitions in the first intron of the ZNF9/CNBP gene. DM2 is a multisystemic disorder affecting the skeletal muscle, the heart, the eye and the endocrine system. According to the proposed pathological mechanism, the expanded tetraplets have an RNA toxic effect, disrupting the splicing ...
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ژورنال
عنوان ژورنال: Scientific Reports
سال: 2013
ISSN: 2045-2322
DOI: 10.1038/srep02142