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

I Zaharieva, S Cirak, Karen Anthony, L Feng, G Tasca, A Ferlini, J Morgan, F Muntoni

Research output: Contribution to journalAbstractResearchpeer-review

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.
Original languageEnglish
JournalNeuromuscular Disorders
Volume25
Issue numberSupp 2
Publication statusPublished - 1 Oct 2015

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Dystrophin
Duchenne Muscular Dystrophy
MicroRNAs
Frameshift Mutation
Reading Frames
Mutation
Open Reading Frames
Exons
Gene Expression
Genes
Therapeutics

Cite this

Zaharieva, I., Cirak, S., Anthony, K., Feng, L., Tasca, G., Ferlini, A., ... Muntoni, F. (2015). G.P.228 - Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy. Neuromuscular Disorders, 25(Supp 2).
Zaharieva, I ; Cirak, S ; Anthony, Karen ; Feng, L ; Tasca, G ; Ferlini, A ; Morgan, J ; Muntoni, F. / G.P.228 - Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy. In: Neuromuscular Disorders. 2015 ; Vol. 25, No. Supp 2.
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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.",
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Zaharieva, I, Cirak, S, Anthony, K, Feng, L, Tasca, G, Ferlini, A, Morgan, J & Muntoni, F 2015, 'G.P.228 - Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy', Neuromuscular Disorders, vol. 25, no. Supp 2.

G.P.228 - Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy. / Zaharieva, I; Cirak, S; Anthony, Karen; Feng, L; Tasca, G; Ferlini, A; Morgan, J; Muntoni, F.

In: Neuromuscular Disorders, Vol. 25, No. Supp 2, 01.10.2015.

Research output: Contribution to journalAbstractResearchpeer-review

TY - JOUR

T1 - G.P.228 - Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy

AU - Zaharieva, I

AU - Cirak, S

AU - Anthony, Karen

AU - Feng, L

AU - Tasca, G

AU - Ferlini, A

AU - Morgan, J

AU - Muntoni, F

PY - 2015/10/1

Y1 - 2015/10/1

N2 - 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.

AB - 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.

M3 - Abstract

VL - 25

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - Supp 2

ER -