Northampton Electronic Collection of Theses and Research

G.P.228 - Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy

Zaharieva, I., Cirak, S., Anthony, K., Feng, L., Tasca, G., Ferlini, A., Morgan, J. and Muntoni, F. (2015) G.P.228 - Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy. Neuromuscular Disorders. 25(Supp 2), S255. 0960-8966.

Item Type: Article
Abstract: Becker (BMD) and Duchenne muscular dystrophy (DMD) are allelic disorders arising from mutations in the dystrophin gene. In-frame mutations lead to the milder BMD while out-of-frame mutations disrupt the reading frame and lead to the severe DMD with lack of dystrophin. A therapeutic strategy for skipping specific exons in dystrophin and restoring the open reading frame has been successfully applied in DMD; this “converts” the out-of-frame deletion in DMD to BMD-like in-frame deletion. Micro RNAs (miRs) are small RNA sequences that regulate gene expression post-transcriptionally.
Subjects: Q Science > QH Natural history > QH426 Genetics > QH438.7 Human genetics
R Medicine > RC Internal medicine > RC925 Diseases of the musculoskeletal system > RC935.M7 Muscular dystrophy
Creators: Zaharieva, I, Cirak, S, Anthony, Karen, Feng, L, Tasca, G, Ferlini, A, Morgan, J and Muntoni, F
Publisher: Elsevier
Faculties, Divisions and Institutes: University Faculties, Divisions and Research Centres - OLD > Research Centre > Institute of Health and Wellbeing > Ageing Research Centre
Research Centres > Centre for Health Sciences and Services
Research Centres > Centre for Physical Activity and Life Sciences
Date: October 2015
Date Type: Publication
Page Range: S255
Journal or Publication Title: Neuromuscular Disorders
Volume: 25
Number: Supp 2
Language: English
ISSN: 0960-8966
Status: Published / Disseminated

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