Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase-Reference-Cited by-同舟云学术

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase

Published:2017-11-29 Issue:418 Volume:9 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Puzzo Francesco¹²^ORCID,Colella Pasqualina¹^ORCID,Biferi Maria G.³^ORCID,Bali Deeksha⁴^ORCID,Paulk Nicole K.⁵,Vidal Patrice¹³,Collaud Fanny¹,Simon-Sola Marcelo¹³^ORCID,Charles Severine¹,Hardet Romain³^ORCID,Leborgne Christian¹,Meliani Amine¹³^ORCID,Cohen-Tannoudji Mathilde³,Astord Stephanie³,Gjata Bernard¹,Sellier Pauline¹³,van Wittenberghe Laetitia¹,Vignaud Alban¹,Boisgerault Florence¹,Barkats Martine³,Laforet Pascal⁶^ORCID,Kay Mark A.⁵,Koeberl Dwight D.⁷^ORCID,Ronzitti Giuseppe¹^ORCID,Mingozzi Federico¹³^ORCID

Affiliation:

1. INTEGRARE, Genethon, Inserm, Univ Evry, Université Paris-Saclay, 91002 Evry, France.

2. Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.

3. University Pierre and Marie Curie Paris 6 and INSERM U974, Paris, France.

4. Biochemical Genetics Laboratory, Duke University Health System, Durham, NC 27710, USA.

5. Departments of Pediatrics and Genetics, Stanford University, Stanford, CA 94305, USA.

6. Paris-Est Neuromuscular Center, Pitié-Salpêtrière Hospital and Raymond Poincaré Teaching Hospital, Garches, APHP, Paris, France.

7. Division of Medical Genetics, Department of Pediatrics and Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC 27710, USA.

Abstract

Liver delivery of engineered GAA transgenes to mice with Pompe disease rescued glycogen accumulation in multiple tissues.

Funder

National Heart, Lung, and Blood Institute

National Center for Research Resources

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference69 articles.

1. Pompe's disease

2. Recombinant human acid -glucosidase: Major clinical benefits in infantile-onset Pompe disease