Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice

Author:

Niemir Natalia12,Rouvière Laura12,Besse Aurore3,Vanier Marie T4,Dmytrus Jasmin5,Marais Thibaut3,Astord Stéphanie3,Puech Jean-Philippe6,Panasyuk Ganna12,Cooper Jonathan D57,Barkats Martine3,Caillaud Catherine126

Affiliation:

1. INSERM U1151, Institut Necker Enfants Malades, Paris 75014, France

2. Université Paris Descartes, Sorbonne Paris Cité, Paris, France

3. Centre of Research in Myology, Institut de Myologie, Sorbonne Universités, UPMC University Paris 06, Inserm UMRS974, GH Pitié Salpêtrière, Paris 75013, France

4. INSERM U820, Université de Lyon, Faculté de Médecine Lyon-Est, Lyon 69372, France

5. Department of Basic and Clinical Neuroscience, King’s College London, Institute of Psychiatry, Psychology & Neuroscience, Maurice Wohl Clinical Neuroscience Institute, London SE5 9RX, UK

6. Service de Biochimie, Métabolomique et Protéomique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France

7. Department of Pediatrics, Los Angeles Biomedical Research Institute, David Geffen School of Medicine, UCLA, Torrance, CA 90502, USA

Funder

AFM

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference49 articles.

1. Enzyme alterations and lipid storage in three variants of Tay-Sachs disease;Sandhoff;J. Neurochem,1971

2. Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase;Neufeld;J. Biol. Chem,1989

3. Mouse models of Tay–Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism;Sango;Nat. Genet,1995

4. Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases;Phaneuf;Hum. Mol. Genet,1996

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