TERAPIA GENICA
PER LE SARCOGLICANOPATIE
Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D by Isolated Limb Infusion
Hum Gene Ther. 2019 Jul;30(7):794-801. doi: 10.1089/hum.2019.006. Epub 2019 Apr 19.
Jerry R Mendell 1 2 3, Louis G Chicoine 1 2, Samiah A Al-Zaidy 2, Zarife Sahenk 1 2 3, Kelly Lehman 1, Linda Lowes 1 2
3, Natalie Miller 1, Lindsay Alfano 1 3, Beverly Galliers 1, Sarah Lewis 1, Darren Murrey 1, Ellyn Peterson 1, Danielle A
Griffin 1, Kathleen Church 1, Sharon Cheatham 4, John Cheatham 4, Mark J Hogan 5, Louise R Rodino-Klapac 1 2
Affiliations expand
PMID: 30838895 PMCID: PMC6648191 DOI: 10.1089/hum.2019.006
Free PMC article
An AAV-SGCG Dose-Response Study in a γ-Sarcoglycanopathy Mouse Model in the Context of Mechanical Stress
David Israeli 1, Jérémie Cosette 1, Guillaume Corre 1, Fatima Amor 1, Jérôme Poupiot 1, Daniel Stockholm 1, Marie Montus 1, Bernard Gjata 1, Isabelle Richard 1
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PMID: 31194043 PMCID: PMC6545357 DOI: 10.1016/j.omtm.2019.04.007
Free PMC article
https://pubmed.ncbi.nlm.nih.gov/31194043/
Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice
β-Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice
Gene Therapy , (20 August 2015) | doi:10.1038/gt.2015.80
E R Pozsgai, D A Griffin, K N Heller, J R Mendell and L R Rodino-Klapac
A phase I trial of adeno-associated virus serotype 1–gammasarcoglycan gene therapy for limb girdle muscular dystrophy type 2C
Serge Herson 1, Faycal Hentati 2, Aude Rigolet 1, Anthony Behin 3, Norma B Romero 3, France Leturcq 4, Pascal Laforêt 3, Thierry Maisonobe 3, Rim Amouri 2, Hafedh Haddad 5, Muriel Audit 6, Marie Montus 5, Carole Masurier 5, Bernard Gjata 5, Christophe Georger 5, Mustapha Cheraï 7, Pierre Carlier 3, Jean-Yves Hogrel 3, Ariane Herson 3, Yves Allenbach 1, François M Lemoine 7, David Klatzmann 7, H Lee Sweeney 8, Richard C. Mulligan 9, Bruno Eymard 3, Didier Caizergues 5, Thomas Voit 3, Olivier Benveniste 1
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.
https://pubmed.ncbi.nlm.nih.gov/21031578/
Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Taylor LE, Flanigan KM, Gastier-Foster JM, Astbury C, Kota J, Sahenk Z, Walker CM, Clark KR.
Ann Neurol. 2010 Nov;68(5):629-38.
Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins
https://pubmed.ncbi.nlm.nih.gov/19798725/
Mendell JR, Rodino-Klapac LR, Rosales-Quintero X, Kota J, Coley BD, Galloway G, Craenen JM, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Viollet L, Walker CM, Sahenk Z, Clark KR.
Ann Neurol. 2009 Sep;66(3):290-7.
Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D
https://pubmed.ncbi.nlm.nih.gov/18525034/
Rodino-Klapac LR, Lee JS, Mulligan RC, Clark KR, Mendell JR.
Neurology. 2008 Jul 22;71(4):240-7. Epub 2008 Jun 4.
“Phenotypic Correction of alpha-Sarcoglycan Deficiency by Intra-arterial Injection of a Muscle-specific Serotype 1 rAAV Vector”
Gennaio 2007
https://www.sciencedirect.com/science/article/pii/S1525001616312503
Francoise Fougerousse, Marc Bartoli, Jerome Poupiot, Ludovic Arandel, Murie Durand, Nicolas Guerchet, Evelyne Gicquel, Olivier Danos, Isabelle Richard.
Molecular Therapy, Volume 15, Issue 1, January 2007, Pages 53-61