WorldCat Identities

Mariot, Virginie

Overview
Works: 5 works in 5 publications in 2 languages and 9 library holdings
Roles: Other, Author, Thesis advisor
Publication Timeline
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Most widely held works by Virginie Mariot
Necroptosis mediates myofibre death in dystrophin-deficient mice by Jennifer E Morgan( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

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1 edition published in 2009 in French and held by 2 WorldCat member libraries worldwide

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report by Marie-Cécile Gaillard( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

Publisher Correction: Necroptosis mediates myofibre death in dystrophin-deficient mice by Jennifer E Morgan( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Développement d'une stratégie thérapeutique pour la dystrophie facio-scapulo-humérale by Anne-Charlotte Marsollier( )

1 edition published in 2017 in French and held by 1 WorldCat member library worldwide

FacioScapuloHumeral Dystrophy (FSHD) is a rare autosomal dominant neuromuscular disorder. This disease is caused by a loss of epigenetic marks within the D4Z4 macrosatellite located in the subtelomeric region of chromosome 4 leading to chromatin relaxation, aberrant expression of the DUX4 transcription factor and a cascade of gene deregulations. So far, there is no curative treatment for FSHD. The aim of this project was to determine whether or not targeting 3'-end key sequences involved in the polyadenylation of mRNA by antisens oligonucleotides (AOs) can be used as an efficient strategy for DUX4 gene silencing in FSHD. Indeed, cleavage and polyadenylation of the 3'-end of mRNAs are fundamental mechanisms of mRNAs maturation required for nuclear export, stability of the mRNAs and efficient translation and consequently could represent interesting targets for suppression of gene expression for gain of function diseases. For the first time, we demonstrated in vitro that targeting 3'-end key sequences involved in the addition of the poly(A) tail, such as the polyadenylation signal and the cleavage site, leads to an efficient extinction of the mRNA targeted and in particular DUX4. Because AOs have a weak cellular uptake and a rapid clearance in vivo, the sequences of the most promising AOs have been vectorised into an AAV vector under the control of the U7 promoter. The first results that we obtained with a FSHD mouse model treated with these vectors are promising. This innovating strategy appears as a therapeutic option for FSHD
 
Audience Level
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Audience Level
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Audience level: 0.97 (from 0.94 for <> ... to 1.00 for Développe ...)

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