Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice-Reference-Cited by-同舟云学术

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

Published:2019-03-20 Issue:484 Volume:11 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Lionello Valentina M.¹²³⁴^ORCID,Nicot Anne-Sophie¹²³⁴⁵^ORCID,Sartori Maxime¹²³⁴,Kretz Christine¹²³⁴,Kessler Pascal¹²³⁴^ORCID,Buono Suzie¹²³⁴,Djerroud Sarah¹²³⁴^ORCID,Messaddeq Nadia¹²³⁴,Koebel Pascale¹²³⁴,Prokic Ivana¹²³⁴^ORCID,Hérault Yann¹²³⁴^ORCID,Romero Norma B.⁶⁷⁸,Laporte Jocelyn¹²³⁴^ORCID,Cowling Belinda S.¹²³⁴^ORCID

Affiliation:

1. IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France.

2. INSERM U1258, 67404 Illkirch, France.

3. CNRS UMR7104, 67404 Illkirch, France.

4. Strasbourg University, 67404 Illkirch, France.

5. Grenoble Institute des Neurosciences, Université Grenoble Alpes, 38706 Grenoble, France.

6. Université Sorbonne, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l’hôpital, 75013 Paris, France.

7. Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France.

8. Neuromuscular Morphology Unit, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France.

Abstract

Modulation of human amphiphysin 2 expression by genetic cross and viral delivery rescues all hallmarks of X-linked centronuclear myopathy in mice.

Funder

Myotubular Trust

Sparks

Agence Nationale de la Recherche

Fondation Plan Alzheimer

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine