Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy

Autor: Delphine Trochet, Bernard Prudhon, Lylia Mekzine, Mégane Lemaitre, Maud Beuvin, Laura Julien, Sofia Benkhelifa-Ziyyat, Mai Thao Bui, Norma Romero, Marc Bitoun

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 27, Iss , Pp 1179-1190 (2022)

Dominant dynamin 2 (DNM2) mutations are responsible for the autosomal dominant centronuclear myopathy (AD-CNM), a rare progressive neuromuscular disorder ranging from severe neonatal to mild adult forms. We previously demonstrated that mutant-specifi

Externí odkaz: https://doaj.org/article/3866d36cc9c9433796905ac149308456

Comprehensive morphometric assessment of deltoid muscle development in children: A cross-sectional studyResearch in context

Autor: Teresinha Evangelista, Malick Kandji, Emmanuelle Lacene, Anaïs Chanut, Mai Thao Bui, Rudy Marty, Laurent Buffat, Kenneth Knoblauch, Brian B. Rudkin, Norma Beatriz Romero

Publikováno v: EBioMedicine, Vol 86, Iss , Pp 104367- (2022)

Summary: Background: Normative values for different morphometric parameters of muscle fibres during paediatric development, i.e. from 0 to 18 years, are currently unavailable. They would be of major importance to accurately evaluate pathological chan

Externí odkaz: https://doaj.org/article/c40daf88736542c2be1493893b156c48

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells

Autor: Arlek M. González-Jamett, Ximena Baez-Matus, María José Olivares, Fernando Hinostroza, Maria José Guerra-Fernández, Jacqueline Vasquez-Navarrete, Mai Thao Bui, Pascale Guicheney, Norma Beatriz Romero, Jorge A. Bevilacqua, Marc Bitoun, Pablo Caviedes, Ana M. Cárdenas

Publikováno v: Scientific Reports, Vol 7, Iss 1, Pp 1-16 (2017)

Abstract Dynamin-2 is a ubiquitously expressed GTP-ase that mediates membrane remodeling. Recent findings indicate that dynamin-2 also regulates actin dynamics. Mutations in dynamin-2 cause dominant centronuclear myopathy (CNM), a congenital myopathy

Externí odkaz: https://doaj.org/article/9c9e6b6e323144c598b2710c66121577

Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle

Autor: Jeanne Lainé, Pascale Guicheney, Guy Brochier, Stéphane Vassilopoulos, Mai Thao Bui, Agathe Franck, E. Lacène, Eline Lemerle, Norma B. Romero, Marc Bitoun, Gilles Moulay, Sofia Benkhelifa-Ziyyat, Michael Trichet, Christel Gentil

Publikováno v: Molecular Biology of the Cell
Molecular Biology of the Cell, American Society for Cell Biology, 2019, 30 (5), pp.579-590. ⟨10.1091/mbc.E18-11-0718⟩
Molecular Biology of the Cell, 2019, 30 (5), pp.579-590. ⟨10.1091/mbc.E18-11-0718⟩

International audience; Clathrin plaques are stable features of the plasma membrane observed in several cell types. They are abundant in muscle, where they localize at costameres that link the contractile apparatus to the sarcolemma and connect the s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c601ac0f72c7bad43d201474c12573f3
http://europepmc.org/articles/PMC6589689

A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation

Autor: Pascal Laforêt, Roberto Silva-Rojas, Béatrice Lannes, Guy Brochier, Mai Thao Bui, Jocelyn Laporte, Andoni Echaniz-Laguna, Norma B. Romero, John Vissing, Johann Böhm, Evelina Edelweiss, Xavière Lornage, Mette Cathrine Ørngreen, Catherine Birck

Publikováno v: Annals of Neurology
Annals of Neurology, Wiley, 2020, 88 (2), pp.274-282. ⟨10.1002/ana.25771⟩
Annals of Neurology, 2020, 88 (2), pp.274-282. ⟨10.1002/ana.25771⟩

International audience; Objective: Glycogen storage diseases (GSDs) are severe human disorders resulting from abnormal glucose metabolism, and all previously described GSDs segregate as autosomal recessive or X-linked traits. In this study, we aimed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::014122719299b05484b022ec255d03f4
https://hal.archives-ouvertes.fr/hal-02938436