BIN1 modulation in vivo rescues dynamin-related myopathy-Reference-Cited by-同舟云学术

BIN1 modulation in vivo rescues dynamin-related myopathy

Published:2022-02-25 Issue:9 Volume:119 Page:
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proc. Natl. Acad. Sci. U.S.A.

Author:

Lionello Valentina Maria¹^ORCID,Kretz Christine¹,Edelweiss Evelina¹,Crucifix Corinne¹,Gómez-Oca Raquel¹²^ORCID,Messaddeq Nadia¹^ORCID,Buono Suzie¹^ORCID,Koebel Pascale¹^ORCID,Massana Muñoz Xènia¹,Diedhiou Nadège¹,Cowling Belinda S.¹²,Bitoun Marc³,Laporte Jocelyn¹^ORCID

Affiliation:

1. Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, F-67404, France

2. Dynacure, Illkirch, F-67400, France

3. Institute of Myology, Centre of Research in Myology, INSERM, UMRS 974, Sorbonne Université, F-75013, Paris, France

Abstract

Significance Membrane remodeling and trafficking is essential for intracellular organization under normal conditions and can be altered in a plethora of diseases. Here we characterized the action of amphiphysin (BIN1) and dynamin (DNM2), two main regulators of membrane remodeling mutated in congenital myopathies. We found their interplay is necessary for membrane fission in vitro and to maintain muscle homeostasis in vivo. Moreover, increasing BIN1 expression was validated as a therapeutic approach to ameliorate both mild and severe forms of DNM2-associated myopathies in mice.

Funder

Agence Nationale de la Recherche

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Link

https://pnas.org/doi/pdf/10.1073/pnas.2109576119

Reference40 articles.

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