Centre de recherche en myologie

• Article dans une revue

Small nucleolar RNAs promote the restoration of muscle differentiation defects in cells from myotonic dystrophy type 1

Baptiste Bogard, Hélène Bonnet, Ekaterina Boyarchuk, Gilles Tellier, Denis Furling, Vincent Mouly, Claire Francastel, Florent Hubé

Abstract Recently, the repertoire of human small nucleolar noncoding RNAs (snoRNAs) and their potential functions has expanded with the discovery of new snoRNAs and messenger RNA (mRNA) targets, for which snoRNA-guided modifications may influence their stability, translatability, and splicing. We…

Nucleic Acids Research, 2025, 53 (6), ⟨10.1093/nar/gkaf232⟩. ⟨hal-05057978⟩

• Article dans une revue

MBNL deficiency in motor neurons disrupts neuromuscular junction maintenance and gait coordination

Charles Frison-Roche, Célia Martin Demier, Steve Cottin, Jeanne Lainé, Ludovic Arandel, Marius Halliez, Mégane Lemaitre, Xavière Lornage, Laure Strochlic, Maurice Swanson, Cécile Martinat, Julien Messéant, Denis Furling, Frédérique Rau

Abstract Muscleblind-like proteins (MBNLs) are a family of RNA-binding proteins that play essential roles in the regulation of RNA metabolism. Beyond their canonical role in RNA regulation, MBNL proteins have emerged as key players in the pathogenesis of myotonic dystrophy type 1. In myotonic…

Brain - A Journal of Neurology , 2025, 148 (4), pp.1180-1193. ⟨10.1093/brain/awae336⟩. ⟨hal-05045240⟩

• Article dans une revue

Development of a refined experimental mouse model of myasthenia gravis with anti-acetylcholine receptor antibodies

Axel You, Léa Lippens, Odessa-Maud Fayet, Solène Maillard, Laureline Betemps, Antony Grondin, Jean-Thomas Vilquin, Nadine Dragin, Rozen Le Panse

Myasthenia gravis (MG) is an autoimmune disorder primarily caused by autoantibodies that target the acetylcholine receptor (AChR) at the neuromuscular junction (NMJ). The classical experimental autoimmune myasthenia gravis (C-EAMG) mouse model has long been used by immunizing mice with…

Frontiers in Immunology, 2025, 16, ⟨10.3389/fimmu.2025.1521382⟩. ⟨hal-05015979⟩

• Thèse

Deciphering the Common Pathomechanisms of Dilated Cardiomyopathy Caused by LMNA and DMD Mutations Through Genomic Analysis, Decrypter les mécanismes pathologiques communs de la cardiomyopathies dilatée causée par des mutations dans les gènes LMNA et DMD par analyse génomique

Marie Kervella

Duchenne muscular dystrophy and laminopathies lead to the development of dilated cardiomyopathy. Due to the molecular similarities between skeletal and cardiac muscles, cardiomyopathies can be associated with neuromuscular disorders. Neuromuscular diseases are a wide-ranging group of diseases that…, La dystrophie musculaire de Duchenne et les laminopathies entraînent le développement d’une cardiomyopathie dilatée. Par les caractéristiques communes partagées par les muscles squelettiques et cardiaque, les cardiomyopathies peuvent être associées aux maladies neuromusculaires. Ces deux…