Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy-Reference-Cited by-同舟云学术

Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy

Published:2013-07 Issue:7 Volume:24 Page:702-713
ISSN:1043-0342
Container-title:Human Gene Therapy
language:en
Short-container-title:Human Gene Therapy

Author:

Rendu John¹²³,Brocard Julie¹²,Denarier Eric²³⁴⁵,Monnier Nicole¹³,Piétri-Rouxel France⁶,Beley Cyriaque⁶,Roux-Buisson Nathalie¹²³,Gilbert-Dussardier Brigitte⁷,Perez Marie José⁸,Romero Norma⁹,Garcia Luis⁶,Lunardi Joël¹²³,Fauré Julien¹²³,Fourest-Lieuvin Anne¹²⁴,Marty Isabelle¹²

Affiliation:

1. INSERM U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, 38000 Grenoble, France.

2. Université Joseph Fourier, 38000 Grenoble, France.

3. Centre Hospitalier Régional Universitaire de Grenoble, Hôpital Michallon, Biochimie Génétique et Moléculaire, 38000 Grenoble, France.

4. Institut de Recherches en Technologies et Sciences pour le Vivant, Direction des Sciences du Vivant, CEA, 38000 Grenoble, France.

5. INSERM U836, Grenoble Institut des Neurosciences, Equipe Physiopathologie du cytosquelette, 38000 Grenoble, France.

6. UM76-UPMC/U974-Inserm/UMR7215-CNRS, Institut de Myologie, 750153 Paris, France.

7. Génétique Médicale, Centre de Référence Anomalies du Développement Ouest, CHU Poitiers, 86000 Poitiers, France.

8. Foetopathologie, Département de Génétique Médicale, CHRU Montpellier, Arnaud De Villeneuve, 34295 Montpellier, France.

9. Unité de Morphologie Neuromusculaire, Institut de Myologie–UPMC-Paris6 UR76, INSERM UMR974, CNRS UMR 7215, GHU La Pitié-Salpêtrière, 75013 Paris, France.

Publisher

Mary Ann Liebert Inc

Subject

Genetics,Molecular Biology,Molecular Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/hum.2013.052

Reference48 articles.

1. Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients

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3. Muscular Dysgenesis in the Mouse (mdg/mdg)

4. Contractile impairment and structural alterations of skeletal muscles from knockout mice lacking type 1 and type 3 ryanodine receptors

5. Splicing Modulation Mediated by Small Nuclear RNAs as Therapeutic Approaches for Muscular Dystrophies

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