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BITOUN/VASSILOPOULOS Lab

Muscle cell organization and therapy of dominant centronuclear myopathy

  Muscle cell organization and therapy of dominant centronuclear myopathy

Strengthening knowledge on fundamental aspects of muscle biology is one central challenge in order to decipher pathomechanisms and identify targets for therapeutic intervention for neuromuscular disorders. This is particularly true for diseases due to mutations in genes encoding proteins with pleiotropic roles such as autosomal dominant centronuclear myopathy (CNM) due to mutation of the ubiquitously expressed Dynamin 2 (DMN2) involved in endocytosis, intracellular membrane trafficking and cytoskeleton regulation. In this context, the objectives of the team are: i) to dissect fundamental mechanisms of muscle cells, relevant to understand the dominant CNM, and beyond, numerous other neuromuscular disorders, and ii) to develop experimental therapies for the dominant CNM and study the adeno-associated virus (AAV) vectors fate in pathological muscles to optimize AAV-mediated therapies for neuromuscular disorders. With these objectives, we are developing several projects:

– Role of the endocytosis machinery in mechanobiology at the costameres in healthy and pathological muscles with a particular focus on its adhesive properties and the interplay with mechanosensitive pathways. We also want to better understand how alternative splicing events of the endocytosis machinery cooperates, upon differentiation, to govern clathrin structural diversity (Stéphane Vassilopoulos).

– Role of mechanical stress in muscle homeostasis and growth under physiological and pathological conditions, with a particular focus on the force-mediated regulation of plasma membrane and nuclear stiffness and deformations, chromatin and histone modifications, and genetic programs in muscle cells. We also want to determine how muscle differentiation impacts nuclear characteristics (Catherine Coirault).

– The cellular and molecular mechanisms involved in ventilation-induced diaphragm dysfunction in particular during aging, and the muscle dysfunction occurring in patients in intensive care unit (Catherine Coirault and Adrien Bouglé).

– By combining genetic modifications, live imaging, biophysics, cellular and animal models, we aim at deciphering the pivotal influence of the nucleo-cytoskeleton connection on cell phenotype and genome organization in particular in the context of muscle formation and cardiomyopathy (Bruno Cadot).

– Preclinical development of the allele-specific silencing therapy for the dominant CNM and other DNM2-linked diseases and first proof of concept of allele-specific therapy for other dominant diseases. In addition, we want to develop pharmacological therapy for the DNM2-linked CNM patients (Delphine Trochet & Marc Bitoun).

– In order to optimize AAV-based therapies, we want to identify cellular factors impacting the efficiency of AAV-mediated transduction in diseased muscles. We are focusing on mechanisms regulating the AAV intracellular trafficking and to improve AAV-mediated therapies in DMD and CNM animal models by pharmacological co-treatments (Sofia Benkhelifa-Ziyyat).

Team members:

Equipe de Marc Bitoun à l'UMRS 974 centre de recherche en myologie à Paris Sorbonne Université
Marc Bitoun

Contact:

Marc Bitoun

NamePositionEmailORCID

191 documents

Journal articles95 document

  • Florian Wernert, Satish Babu Moparthi, Florence Pelletier, Jeanne Lainé, Eline Simons, et al.. The actin-spectrin submembrane scaffold restricts endocytosis along proximal axons. Science, 2024, 385 (6711), pp.eado2032. ⟨10.1126/science.ado2032⟩. ⟨hal-04678794⟩
  • Jagan Mohan, Satish B Moparthi, Christine Girard-Blanc, Daniele Campisi, Stéphane Blanchard, et al.. ATG16L1 induces the formation of phagophore-like membrane cups. Nature Structural and Molecular Biology, In press, ⟨10.1038/s41594-024-01300-y⟩. ⟨hal-04611251⟩
  • Stéphane Vassilopoulos, Guillaume Montagnac. Clathrin assemblies at a glance. Journal of Cell Science, 2024, 137 (8), ⟨10.1242/jcs.261674⟩. ⟨hal-04677886⟩
  • Massiré Traoré, Chiara Noviello, Amélie Vergnol, Christel Gentil, Marius Halliez, et al.. GDF5 as a rejuvenating treatment for age-related neuromuscular failure. Brain - A Journal of Neurology , 2024, 147, pp.3834 - 3848. ⟨10.1093/brain/awae107⟩. ⟨hal-04760455⟩
  • Abigail Neininger-Castro, James Hayes, Zachary Sanchez, Nilay Taneja, Aidan Fenix, et al.. Independent regulation of Z-lines and M-lines during sarcomere assembly in cardiac myocytes revealed by the automatic image analysis software sarcApp. eLife, 2023, 12, ⟨10.7554/eLife.87065.3⟩. ⟨hal-04277000⟩
  • Pedro Monteiro, David Remy, Eline Lemerle, Fiona Routet, Anne-Sophie Macé, et al.. A mechanosensitive caveolae–invadosome interplay drives matrix remodelling for cancer cell invasion. Nature Cell Biology, 2023, ⟨10.1038/s41556-023-01272-z⟩. ⟨hal-04265437⟩
  • Edouard Berling, Camille Verebi, Nadia Venturelli, Stéphane Vassilopoulos, Anthony Béhin, et al.. Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort. European Journal of Neurology, 2023, 30 (8), pp.2506-2517. ⟨10.1111/ene.15832⟩. ⟨hal-04277015⟩
  • Eline Lemerle, Jeanne Lainé, Marion Benoist, Gilles Moulay, Anne Bigot, et al.. Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation. eLife, 2023, 12, ⟨10.7554/eLife.84139⟩. ⟨hal-04094370⟩
  • Pedro Monteiro, David Remy, Eline Lemerle, Fiona Routet, Anne-Sophie Macé, et al.. A mechanosensitive caveolae–invadosome interplay drives matrix remodelling for cancer cell invasion. Nature Cell Biology, 2023, 25 (12), pp.1787-1803. ⟨10.1038/s41556-023-01272-z⟩. ⟨hal-04389152⟩
  • Caroline Le Dour, Maria Chatzifrangkeskou, Coline Macquart, Maria M Magiera, Cécile Peccate, et al.. Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations. Nature Communications, 2022, 13 (1), pp.7886. ⟨10.1038/s41467-022-35639-x⟩. ⟨hal-03921784⟩
  • Nicolas Rose, Berenice Estrada Chavez, Surabhi Sonam, Thao Nguyen, Gianluca Grenci, et al.. Bioengineering a Miniaturized In Vitro 3D Myotube Contraction Monitoring Chip To Model Muscular Dystrophies. Biomaterials, 2022, ⟨10.1016/j.biomaterials.2022.121935⟩. ⟨hal-03278692⟩
  • Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, et al.. Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies. Acta Neuropathologica Communications, 2022, 10 (1), pp.101. ⟨10.1186/s40478-022-01400-0⟩. ⟨hal-03820052⟩
  • Amédée Mollard, Cécile Peccate, Anne Forand, Julie Chassagne, Laura Julien, et al.. Muscle regeneration affects Adeno Associated Virus 1 mediated transgene transcription. Scientific Reports, 2022, 12 (1), pp.9674. ⟨10.1038/s41598-022-13405-9⟩. ⟨hal-03828271⟩
  • Mark R Viggars, Daniel Owens, Claire Stewart, Catherine Coirault, Abigail L Mackey, et al.. PCM1 labelling reveals myonuclear and nuclear dynamics in skeletal muscle across species. American Journal of Physiology - Cell Physiology, 2022, Online ahead of print. ⟨10.1152/ajpcell.00285.2022⟩. ⟨inserm-03852473⟩
  • Ei Leen Leong, Nyein Thet Khaing, Bruno Cadot, Wei Liang Hong, Serguei Kozlov, et al.. Nesprin-1 LINC complexes recruit microtubule cytoskeleton proteins and drive pathology in Lmna -mutant striated muscle. Human Molecular Genetics, 2022, ⟨10.1093/hmg/ddac179⟩. ⟨hal-03820020⟩
  • Larisa Venkova, Amit Singh Vishen, Sergio Lembo, Nishit Srivastava, Baptiste Duchamp, et al.. A mechano-osmotic feedback couples cell volume to the rate of cell deformation. eLife, 2022, 11, ⟨10.7554/eLife.72381⟩. ⟨hal-03773604⟩
  • Valentina Maria Lionello, Christine Kretz, Evelina Edelweiss, Corinne Crucifix, Raquel Gómez-Oca, et al.. BIN1 modulation in vivo rescues dynamin-related myopathy. Proceedings of the National Academy of Sciences of the United States of America, 2022, 119 (9), ⟨10.1073/pnas.2109576119⟩. ⟨hal-03613287⟩
  • Valentin Jacquier, Manon Prévot, Thierry Gostan, Rémy Bordonné, Sofia Benkhelifa-Ziyyat, et al.. Splicing efficiency of minor introns in a mouse model of SMA predominantly depends on their branchpoint sequence and can involve the contribution of major spliceosome components. RNA, 2022, 28 (3), pp.303-319. ⟨10.1261/rna.078329.120⟩. ⟨hal-03687098⟩
  • Steṕhane Vassilopoulos, Christophe Leterrier. Anneaux ou tresses ?. Médecine/Sciences, 2022, 38 (2), pp.130-133. ⟨10.1051/medsci/2021254⟩. ⟨hal-03581001⟩
  • Fatima El Alaoui, Ignacio Casuso, David Sanchez-Fuentes, Charlotte Arpin-Andre, Raissa Rathar, et al.. Structural organization and dynamics of FCHo2 docking on membranes. eLife, 2022, 11, pp.e73156. ⟨10.7554/eLife.73156⟩. ⟨hal-03545920⟩
  • Muhammad Haseeb Iqbal, Jeanne Rosine Faratiana, Emeline Pradel, Varvara Gribova, Kamel Mamchaoui, et al.. Brush-Induced Orientation of Collagen Fibers in Layer-by-Layer Nanofilms: A Simple Method for the Development of Human Muscle Fibers. ACS Nano, In press, ⟨10.1021/acsnano.2c06329⟩. ⟨hal-03832239⟩
  • Swati Dudhal, Lylia Mekzine, Bernard Prudhon, Karishma Soocheta, Bruno Cadot, et al.. Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations. Molecular Therapy - Nucleic Acids, 2022, 29, pp.733-748. ⟨10.1016/j.omtn.2022.08.016⟩. ⟨hal-03778880⟩
  • Delphine Trochet, Bernard Prudhon, Lylia Mekzine, Mégane Lemaitre, Maud Beuvin, et al.. Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy. Molecular Therapy - Nucleic Acids, 2022, 27, pp.1179-1190. ⟨10.1016/j.omtn.2022.02.009⟩. ⟨hal-03659054⟩
  • Gilles Moulay, Marc Bitoun, Denis Furling, Steṕhane Vassilopoulos. Comment l’épissage alternatif contribue au contrôle de la plasticité des structures de clathrine. Médecine/Sciences, 2021, 37 (12), pp.1186-1188. ⟨10.1051/medsci/2021178⟩. ⟨hal-03498232⟩
  • Delphine Trochet, Marc Bitoun. A review of Dynamin 2 involvement in cancers highlights a promising therapeutic target. Journal of experimental & clinical cancer research, 2021, 40 (1), ⟨10.1186/s13046-021-02045-y⟩. ⟨hal-03333679⟩
  • Patricia Davidson, Bruno Cadot. Actin on and around the Nucleus. Trends in Cell Biology, 2021, 31 (3), pp.211 - 223. ⟨10.1016/j.tcb.2020.11.009⟩. ⟨hal-03165074⟩
  • Joshua S Clayton, Carolin K Scriba, Norma B Romero, Edoardo Malfatti, Safaa Saker, et al.. Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene. Stem Cell Research, 2021, 53, pp.102273. ⟨10.1016/j.scr.2021.102273⟩. ⟨hal-03176265⟩
  • Elena Gargaun, Sestina Falcone, Guilhem Sole, Julien Durigneux, Andoni Urtizberea, et al.. The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD. Biomedicines, 2021, 9 (2), pp.219. ⟨10.3390/biomedicines9020219⟩. ⟨hal-03163543⟩
  • Saline Jabre, Walid Hleihel, Catherine Coirault. Nuclear Mechanotransduction in Skeletal Muscle. Molecules, 2021, 10 (2), pp.318 - 320. ⟨10.3390/10020318⟩. ⟨hal-03138510⟩
  • Francesco Girardi, Anissa Taleb, Lorenzo Giordani, Asiman Datye, Majid Ebrahimi, et al.. TGFβ signaling curbs cell fusion and muscle regeneration. Nature Communications, 2021, 12 (750), ⟨10.1242/jcs.249607⟩. ⟨hal-03272871⟩
  • Francisco Calero-Cuenca, Daniel Osorio, Sofia Carvalho-Marques, Sreerama Chaitanya Sridhara, Luis Oliveira, et al.. Ctdnep1 and Eps8L2 regulate dorsal actin cables for nuclear positioning during cell migration. Current Biology - CB, 2021, ⟨10.1016/j.cub.2021.01.007⟩. ⟨hal-03139012⟩
  • Shailaja Seetharaman, Benoit Vianay, Vanessa Roca, Aaron Farrugia, Chiara de Pascalis, et al.. Microtubules tune mechanosensitive cell responses. Nature Materials, 2021, ⟨10.1038/s41563-021-01108-x⟩. ⟨pasteur-03096554v2⟩
  • Camila F Almeida, Marc Bitoun, Mariz Vainzof. Satellite cells deficiency and defective regeneration in dynamin 2‐related centronuclear myopathy. FASEB Journal, 2021, 35 (4), pp.e21346. ⟨10.1096/fj.202001313rrr⟩. ⟨hal-03448321⟩
  • Daniel J Owens, Julien Messéant, Sophie Moog, Mark Viggars, Arnaud Ferry, et al.. Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth. International Journal of Molecular Sciences, 2020, 22 (1), pp.306. ⟨10.3390/ijms22010306⟩. ⟨hal-03146374⟩
  • Gilles Moulay, Jeanne Lainé, Mégane Lemaître, Masayuki Nakamori, Ichizo Nishino, et al.. Alternative splicing of clathrin heavy chain contributes to the switch from coated pits to plaques. Journal of Cell Biology, 2020, 219 (9), ⟨10.1083/jcb.201912061⟩. ⟨hal-03005118⟩
  • Théophile Déjardin, Pietro Salvatore Carollo, François Sipieter, Patricia M Davidson, Cynthia Seiler, et al.. Nesprins are mechanotransducers that discriminate epithelial–mesenchymal transition programs. Journal of Cell Biology, 2020, 219, ⟨10.1083/jcb.201908036⟩. ⟨hal-02989257⟩
  • Francesca Bottanelli, Bruno Cadot, Felix Campelo, Scott Curran, Patricia M Davidson, et al.. Science during lockdown – from virtual seminars to sustainable online communities. Journal of Cell Science, 2020, 133 (15), ⟨10.1242/jcs.249607⟩. ⟨hal-03272827⟩
  • Stéphane Vassilopoulos. Unconventional roles for membrane traffic proteins in response to muscle membrane stress. Current Opinion in Cell Biology, 2020, 65, pp.42-49. ⟨10.1016/j.ceb.2020.02.007⟩. ⟨hal-03005110⟩
  • Patricia M Davidson, Aude Battistella, Théophile Déjardin, Timo Betz, Julie Plastino, et al.. Nesprin‐2 accumulates at the front of the nucleus during confined cell migration. EMBO Reports, 2020, 21 (7), ⟨10.15252/embr.201949910⟩. ⟨hal-02989244⟩
  • Aurélien Perrin, Corinne Metay, Marcello Villanova, Robert-Yves Carlier, Elena Pegoraro, et al.. A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency. Annals of Clinical and Translational Neurology, 2020, ⟨10.1002/acn3.51031⟩. ⟨hal-02573441⟩
  • Claudia Puri, Marco M Manni, Mariella Vicinanza, Christine Hilcenko, Ye Zhu, et al.. A DNM2 centronuclear myopathy mutation reveals a link between recycling endosome scission and autophagy. Developmental Cell, 2020, 53 (2), pp.154 - 168. ⟨10.1016/j.devcel.2020.03.018⟩. ⟨hal-03272818⟩
  • Daniel J Owens, Martina Fischer, Saline Jabre, Sophie Moog, Kamel Mamchaoui, et al.. Lamin Mutations Cause Increased YAP Nuclear Entry in Muscle Stem Cells. Cells, 2020, 9 (4), pp.E816. ⟨10.3390/cells9040816⟩. ⟨inserm-02538651⟩
  • Jean-François Darrigrand, Mariana Valente, Glenda Comai, Pauline Martinez, Maxime Petit, et al.. Dullard-mediated Smad1/5/8 inhibition controls mouse cardiac neural crest cells condensation and outflow tract septation. eLife, 2020, 9, pp.e50325. ⟨10.7554/eLife.50325⟩. ⟨hal-02533295⟩
  • Piera Smeriglio, Paul Langard, Giorgia Querin, Maria Grazia Biferi. The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment. Journal of Personalized Medicine, 2020, 10 (3), pp.75. ⟨10.3390/jpm10030075⟩. ⟨hal-02986776⟩
  • Laura Muraine, Mona Bensalah, Jamila Dhiab, Gonzalo Cordova, Ludovic Arandel, et al.. Transduction Efficiency of Adeno-Associated Virus Serotypes After Local Injection in Mouse and Human Skeletal Muscle. Human Gene Therapy, In press, ⟨10.1089/hum.2019.173⟩. ⟨hal-02472542⟩
  • Stéphane Vassilopoulos, Solène Gibaud, Angélique Jimenez, Ghislaine Caillol, Christophe Leterrier. Ultrastructure of the axonal periodic scaffold reveals a braid-like organization of actin rings. Nature Communications, 2019, 10 (1), ⟨10.1038/s41467-019-13835-6⟩. ⟨hal-02423801⟩
  • Robin Ferrari, Gaëlle Martin, Oya Tagit, Alan Guichard, Alessandra Cambi, et al.. MT1-MMP directs force-producing proteolytic contacts that drive tumor cell invasion. Nature Communications, 2019, 10 (1), ⟨10.1038/s41467-019-12930-y⟩. ⟨hal-02377251⟩
  • Massiré Traoré, Christel Gentil, Chiara Benedetto, Jean-Yves Hogrel, Pierre de La Grange, et al.. An embryonic CaVβ1 isoform promotes muscle mass maintenance via GDF5 signaling in adult mouse. Science Translational Medicine, 2019, 11 (517), ⟨10.1126/scitranslmed.aaw1131⟩. ⟨hal-02382706⟩
  • Robert G. Parton, Miguel Pozo, Stéphane Vassilopoulos, Ivan R Nabi, Soazig Le Lay, et al.. Caveolae: The FAQs. Traffic, 2019, 21 (1), Epub ahead of print. ⟨10.1111/tra.12689⟩. ⟨inserm-02279141⟩
  • Nada Essawy, Camille Samson, Ambre Petitalot, Sophie Moog, Anne Bigot, et al.. An Emerin LEM-Domain Mutation Impairs Cell Response to Mechanical Stress. Cells, 2019, 8 (6), pp.570. ⟨10.3390/cells8060570⟩. ⟨inserm-02426434⟩
  • Agathe Franck, Jeanne Lainé, Gilles Moulay, Eline Lemerle, Michaël Trichet, et al.. Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle. Molecular Biology of the Cell, 2019, 30 (5), pp.579-590. ⟨10.1091/mbc.E18-11-0718⟩. ⟨hal-02136143⟩
  • Anaïs Fongy, Sestina Falcone, Jeanne Lainé, Bernard Prudhon, Aurea Martins-Bach, et al.. Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model. Scientific Reports, 2019, 9, pp.1580. ⟨10.1038/s41598-018-38184-0⟩. ⟨hal-02024929⟩
  • Xavière Lornage, Norma B Romero, Claire A. Grosgogeat, Eduardo Malfatti, Sandra Donkervoort, et al.. ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathologica, 2019, 137 (3), pp.501-519. ⟨10.1007/s00401-019-01963-8⟩. ⟨hal-03676431⟩
  • Xavière Lornage, Vanessa Schartner, Inès Balbueno, Valérie Biancalana, Tracey Willis, et al.. Clinical, histological, and genetic characterization of PYROXD1-related myopathy. Acta Neuropathologica Communications, 2019, 7, pp.138. ⟨10.1186/s40478-019-0781-8⟩. ⟨hal-02278850⟩
  • Tayyibah Ali, Joanna Bednarska, Stéphane Vassilopoulos, Martin Tran, Ivan A Diakonov, et al.. Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin. FASEB Journal, 2019, 33 (7), pp.8504-8518. ⟨10.1096/fj.201802635R⟩. ⟨hal-02281923⟩
  • David-Alexandre Gross, Alexandre Ghenassia, Laurent Bartolo, Dominique Urbain, Sofia Benkhelifa-Ziyyat, et al.. Cross-Presentation of Skin-Targeted Recombinant Adenoassociated Virus 2/1 Transgene Induces Potent Resident Memory CD8 ؉ T Cell Responses. Journal of Virology, 2019, 93 (5), pp.e01334-18. ⟨10.1128/JVI.01334-18⟩. ⟨hal-03827009⟩
  • Hannes Maib, Filipe Ferreira, Stéphane Vassilopoulos, Elizabeth Smythe. Cargo regulates clathrin-coated pit invagination via clathrin light chain phosphorylation. Journal of Cell Biology, 2018, 217 (12), pp.4253-4266. ⟨10.1083/jcb.201805005⟩. ⟨hal-03005134⟩
  • Stéphanie Torrino, Wei-Wei Shen, Cédric Blouin, Satish Kailasam Mani, Christine Viaris de Lesegno, et al.. EHD2 is a mechanotransducer connecting caveolae dynamics with gene transcription. Journal of Cell Biology, 2018, 217 (12), pp.4092-4105. ⟨10.1083/jcb.201801122⟩. ⟨hal-04003221⟩
  • Stéphanie Torrino, Wei-Wei Shen, Cedric Blouin, Satish Kailasam Mani, Christine C. Viaris de Lesegno, et al.. EHD2 is a mechanotransducer connecting caveolae dynamics with gene transcription. Journal of Cell Biology, 2018, 217 (12), pp.4092-4105. ⟨10.1083/jcb.201801122⟩. ⟨inserm-02426440⟩
  • Valérie Biancalana, Norma Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, et al.. Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy. Acta Neuropathologica Communications, 2018, 6 (1), ⟨10.1186/s40478-018-0593-2⟩. ⟨hal-03671916⟩
  • Matthieu Le Dinh, Serge Carreira, Julie Obert, Ghislaine Gayan-Ramirez, Bruno Riou, et al.. Prolonged mechanical ventilation worsens sepsis-induced diaphragmatic dysfunction in the rat. PLoS ONE, 2018, 13 (8), pp.e0200429. ⟨10.1371/journal.pone.0200429⟩. ⟨inserm-02426442⟩
  • Feriel Azibani, Astrid Brull, Ludovic Arandel, Maud Beuvin, Isabelle Nelson, et al.. Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy. Molecular Therapy - Nucleic Acids, 2018, 10, pp.376 - 386. ⟨10.1016/j.omtn.2017.12.012⟩. ⟨hal-03269960⟩
  • Voahangy Randrianarison-Huetz, Aikaterini Papaefthymiou, Gaelle Herledan, Chiara Noviello, Ulduz Faradova, et al.. Srf controls satellite cell fusion through the maintenance of actin architecture. Journal of Cell Biology, 2018, 217 (2), pp.685-700. ⟨10.1083/jcb.201705130⟩. ⟨hal-02397529⟩
  • Laura Julien, Julie Chassagne, Cécile Peccate, Stéphanie Lorain, France Pietri-Rouxel, et al.. RFX1 and RFX3 Transcription Factors Interact with the D Sequence of Adeno-Associated Virus Inverted Terminal Repeat and Regulate AAV Transduction. Scientific Reports, 2018, 8 (1), pp.210. ⟨10.1038/s41598-017-18604-3⟩. ⟨hal-02382992⟩
  • Delphine Trochet, Bernard Prudhon, Maud Beuvin, Cécile Peccate, Stéphanie Lorain, et al.. Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy. EMBO Molecular Medicine, 2018, 10 (2), pp.239-253. ⟨10.15252/emmm.201707988⟩. ⟨hal-02000303⟩
  • Suzie Buono, Jacob Ross, Hichem Tasfaout, Yotam Levy, Christine Kretz, et al.. Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy. Proceedings of the National Academy of Sciences of the United States of America, 2018, 115 (43), pp.11066-11071. ⟨10.1073/pnas.1808170115⟩. ⟨hal-03671918⟩
  • Candice Kutchukian, Peter Szentesi, Bruno Allard, Delphine Trochet, Maud Beuvin, et al.. Impaired excitation-contraction coupling in muscle fibres from the dynamin2 R465W mouse model of centronuclear myopathy. The Journal of Physiology, 2017, 595 (24), pp.7369-7382. ⟨10.1113/JP274990⟩. ⟨hal-03819840⟩
  • Cadot Bruno. Nuclear positioning: A matter of life. Seminars in Cell and Developmental Biology, 2017, ⟨10.1016/j.semcdb.2017.11.034⟩. ⟨hal-01700968⟩
  • Delphine Trochet, Bernard Prudhon, Maud Beuvin, Cécile Peccate, Stéphanie Lorain, et al.. Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy. Circulation. Arrhythmia and electrophysiology, 2017, 10 (12), pp.428-431. ⟨10.15252/emmm.201707988⟩. ⟨hal-04001377⟩
  • Philip Dannhauser, Stéphane Camus, Kazuho Sakamoto, L. Amanda Sadacca, Jorge Torres, et al.. CHC22 and CHC17 clathrins have distinct biochemical properties and display differential regulation and function. Journal of Biological Chemistry, 2017, 292 (51), pp.20834-20844. ⟨10.1074/jbc.M117.816256⟩. ⟨hal-03831887⟩
  • Alexandre Ghenassia, David-Alexandre Gross, Stéphanie Lorain, Fabiola Tros, Dominique Urbain, et al.. Intradermal Immunization with rAAV1 Vector Induces Robust Memory CD8+ T Cell Responses Independently of Transgene Expression in DCs. Molecular Therapy, 2017, 25 (10), pp.2309-2322. ⟨10.1016/j.ymthe.2017.06.019⟩. ⟨hal-03846034⟩
  • William Roman, João Martins, Filomena Carvalho, Raphael Voituriez, Jasmine Abella, et al.. Myofibril contraction and crosslinking drive nuclear movement to the periphery of skeletal muscle. Nature Cell Biology, 2017, 19 (10), pp.1189-1201. ⟨10.1038/ncb3605⟩. ⟨hal-03687566⟩
  • Christophe Lamaze, Nicolas Tardif, Melissa Dewulf, Stéphane Vassilopoulos, Cédric Blouin. The caveolae dress code: structure and signaling. Current Opinion in Cell Biology, 2017, 47, pp.117-125. ⟨10.1016/j.ceb.2017.02.014⟩. ⟨hal-03843342⟩
  • Fiona Brown, Michael Collett, Cedric Tremblay, Gerhard Rank, Pietro de Camilli, et al.. Loss of Dynamin 2 GTPase function results in microcytic anaemia. British Journal of Haematology, 2017, 178 (4), pp.616-628. ⟨10.1111/bjh.14709⟩. ⟨hal-03819824⟩
  • Nadia Elkhatib, Enzo Bresteau, Francesco Baschieri, Alba López Rioja, Guillaume van Niel, et al.. Tubular clathrin/AP-2 lattices pinch collagen fibers to support 3D cell migration. Science, 2017, 356 (6343), ⟨10.1126/science.aal4713⟩. ⟨hal-03832688⟩
  • Christine Schwartz, Martina Fischer, Kamel Mamchaoui, Anne Bigot, Thevy Lok, et al.. Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1. Scientific Reports, 2017, 7 (1), pp.1253. ⟨10.1038/s41598-017-01324-z⟩. ⟨hal-01518113⟩
  • V. Gache, E. Gomes, Bruno Cadot. Microtubule motors involved in nuclear movement during skeletal muscle differentiation. Molecular Biology of the Cell, 2017, 28 (7), pp.865-874. ⟨10.1091/mbc.e16-06-0405⟩. ⟨hal-03820044⟩
  • Audrey de Jong, Serge Carreira, Na Na, Aude Carillion, Cheng Jiang, et al.. Diaphragmatic function is enhanced in fatty and diabetic fatty rats. PLoS ONE, 2017, 12 (3), pp.e0174043. ⟨10.1371/journal.pone.0174043⟩. ⟨hal-01502168⟩
  • Petra Gimpel, Yin Loon Loon Lee, Radoslaw M. M Sobota, Brian Burke, Alessandra Calvi, et al.. Nesprin-1α-Dependent Microtubule Nucleation from the Nuclear Envelope via Akap450 Is Necessary for Nuclear Positioning in Muscle Cells. Current Biology - CB, 2017, ⟨10.1016/j.cub.2017.08.031⟩. ⟨hal-01598133⟩
  • Arlek Gonzalez-Jamett, Ximena Baez-Matus, María José Olivares, Fernando Hinostroza, Maria José Guerra-Fernández, et al.. Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells. Scientific Reports, 2017, 7, pp.4580. ⟨10.1038/s41598-017-04418-w⟩. ⟨hal-01984825⟩
  • Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie-Joséphine Fontenille, Elodie de Bruyckere, et al.. Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. Journal of Neurology, 2017, 264 (8), pp.1791-1803. ⟨10.1007/s00415-017-8569-x⟩. ⟨hal-01653176⟩
  • Mafalda Pimentel, Sestina Falcone, Bruno Cadot, Edgar Gomes. In Vitro Differentiation of Mature Myofibers for Live Imaging. Journal of visualized experiments : JoVE, 2017, 119, ⟨10.3791/55141⟩. ⟨hal-03687569⟩
  • Camille Samson, Florian Celli, Kitty Hendriks, Maximilian Zinke, Nada Essawy, et al.. Emerin self‐assembly mechanism: role of the LEM domain. FEBS Journal, 2016, 284 (2), pp.338-352. ⟨10.1111/febs.13983⟩. ⟨inserm-02426446v2⟩
  • Bruno Cadot, Vincent Gache, Edgar Gomes. Moving and positioning the nucleus in skeletal muscle – one step at a time. Nucleus, 2015, 6 (5), pp.373-381. ⟨10.1080/19491034.2015.1090073⟩. ⟨hal-03687572⟩
  • Aziz Guellich, Elisa Negroni, Valérie Decostre, Alexandre Demoule, Catherine Coirault. Altered cross-bridge properties in skeletal muscle dystrophies. Frontiers in Physiology, 2014, 5, ⟨10.3389/fphys.2014.00393⟩. ⟨inserm-02426461⟩
  • Stéphane Vassilopoulos, Christel Gentil, Jeanne Lainé, Pierre-Olivier Buclez, Agathe Franck, et al.. Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization. Journal of Cell Biology, 2014, 205 (3), pp.377-393. ⟨10.1083/jcb.201309096⟩. ⟨hal-02453865⟩
  • Alexandre Demoule, Boris Jung, Hélène Prodanovic, Nicolas Molinari, Gerald Chanques, et al.. Diaphragm Dysfunction on Admission to the Intensive Care Unit. Prevalence, Risk Factors, and Prognostic Impact—A Prospective Study. American Journal of Respiratory and Critical Care Medicine, 2013, 188 (2), pp.213-219. ⟨10.1164/rccm.201209-1668OC⟩. ⟨inserm-02426547⟩
  • Laura Briñas, Stéphane Vassilopoulos, Gisele Bonne, Pascale Guicheney, Marc Bitoun. Role of dynamin 2 in the disassembly of focal adhesions. Journal of Molecular Medicine, 2013, 91 (7), pp.803-809. ⟨10.1007/s00109-013-1040-2⟩. ⟨hal-02453840⟩
  • Anne-Cécile Durieux, Stéphane Vassilopoulos, Jeanne Lainé, Bodvael Fraysse, Laura Briñas, et al.. A Centronuclear Myopathy - Dynamin 2 Mutation Impairs Autophagy in Mice. Traffic, 2012, 13 (6), pp.869-879. ⟨10.1111/j.1600-0854.2012.01348.x⟩. ⟨hal-02453822⟩
  • Norma B. Romero, Marc Bitoun. Centronuclear Myopathies. Seminars in Pediatric Neurology, 2011, 18 (4), pp.250-256. ⟨10.1016/j.spen.2011.10.006⟩. ⟨hal-02451115⟩
  • Mathieu Rederstorff, Perrine Castets, Sandrine Arbogast, Jeanne Lainé, Stéphane Vassilopoulos, et al.. Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy. PLoS ONE, 2011, 6 (8), ⟨10.1371/journal.pone.0023094⟩. ⟨hal-01716017⟩
  • Charlotte Fugier, Arnaud F Klein, Caroline Hammer, Stéphane Vassilopoulos, Ylva Ivarsson, et al.. Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.. Nature Medicine, 2011, 17 (6), pp.720-5. ⟨10.1038/nm.2374⟩. ⟨hal-00811986⟩
  • Martine Barkats, Thomas Voit, Aurélie Pereira de Moura, Stéphanie Astord, Romain Carcenac, et al.. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Human Molecular Genetics, 2011, 20 (4), pp.681-693. ⟨10.1093/hmg/ddq514⟩. ⟨hal-03677325⟩
  • Anne-Cécile Durieux, Alban Vignaud, Bernard Prudhon, Mai Thao Viou, Maud Beuvin, et al.. A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. Human Molecular Genetics, 2010, 19 (24), pp.4820-4836. ⟨10.1093/hmg/ddq413⟩. ⟨hal-02451060⟩
  • Nadège Salvi, Aziz Guellich, Pierre Michelet, Alexandre Demoule, Morgan Le Guen, et al.. Upregulation of PPARβ/δ Is Associated with Structural and Functional Changes in the Type I Diabetes Rat Diaphragm. PLoS ONE, 2010, 5 (7), pp.e11494. ⟨10.1371/journal.pone.0011494⟩. ⟨inserm-02426556⟩

Conference papers40 document

  • Stéphane Vassilopoulos. Caveolae and Bin1 for ring-shaped platforms for T-tubule initiation. Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. ⟨hal-03920050⟩
  • Cadot Bruno. Mechanical forces in striated muscles cells. Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. ⟨hal-03921731⟩
  • Chiara Noviello, Massiré Traoré, Bruno Cadot, Lucile Saillard, Béatrice Matot, et al.. Exploring the protective role of GDF5 against skeletal muscle disuse atrophy. 19th IIM Meeting, Oct 2022, Assisi (Perugia), France. ⟨hal-04020147⟩
  • Cadot Bruno. From the Muscle Atlas to an AI-based diagnostic tool. Congress of the World Muscle Society, Oct 2022, Halifax, Canada. ⟨hal-03920036⟩
  • Marc Bitoun. Pathophysiological mechanisms of the autosomal dominant centronuclear myopathy due to Dynamin 2 mutations. 17th International Congress on Neuromuscular Diseases, Jul 2022, Bruxels, Belgium. ⟨hal-03920027⟩
  • Delphine Trochet. Allele specific silencing therapy for the Dynamin 2-linked Dominant Centronuclear Myopathy. 17th International Congress on Neuromuscular Diseases, Jul 2022, Bruxels, Belgium. ⟨hal-03920014⟩
  • Marc Bitoun. Pathophysiological mechanisms and therapy for the autosomal dominant centronuclear myopathy due to Dynamin 2 mutations. Journées de la Société Française de Myologie, 2022, Toulouse, France. ⟨hal-03875396⟩
  • Ines Akrouf. Modulation of intracellular pathways involved in the AAV trafficking to optimize AAV-based therapies in Duchenne muscular dystrophy and autosomal dominant Centronuclear Myopathy. Journées de la Société Française de Myologie, 2022, Toulouse, France. ⟨hal-03875378⟩
  • Cadot Bruno. Nucleus-cytoskeletons connections in muscle. Merlion Workshop, 2022, Singapour, Singapore. ⟨hal-03946252⟩
  • Stéphane Vassilopoulos. Mecanobiology, mecanotransduction. Clathrin plaques as mechanotransducing platforms. MiFoBio2021, Nov 2021, Presqu’île de Giens, France. ⟨hal-03920065⟩
  • Eline Lemerle. Role of caveolae in skeletal muscle function and pathophysiology of caveolinopathies. Journées de la Société Française de Myologie, Nov 2019, Marseille, France. ⟨hal-03921779⟩
  • Catherine Coirault. Mechanobiology of skeletal muscle in LMNA-related congenital muscular dystrophy. Journées de la Société Française de Myologie, Nov 2019, Marseille, France. ⟨hal-03926331⟩
  • Stéphane Vassilopoulos. Ultrastructure des cellules musculaires. Journées de la Société Française de Myologie, Nov 2019, Marseille, France. ⟨hal-03921766⟩
  • Catherine Coirault. Mechanobiology of skeletal muscle in muscular diseases. Journées de la Société Française de Myologie, Nov 2019, Marseille, France. ⟨hal-03944510⟩
  • Stéphane Vassilopoulos. Alternative splicing controls clathrin assembly. 10th Imaging the Cell, Nov 2019, Lyon, France. ⟨hal-03926293⟩
  • Stéphane Vassilopoulos. Alternative splicing controls clathrin assembly. EMBO Workshop, Physics and Chemistry of Endocytosis, Sep 2019, Ischia, Italy. ⟨hal-03921787⟩
  • Catherine Coirault. Nuclear export of YAP requires functional LINC compexes in skeletal muscle. Nucleocytoplasmic transport. Peebles Hydro, Aug 2019, _, United Kingdom. ⟨hal-03926324⟩
  • Stéphane Vassilopoulos. Caveolae dynamics in skeletal muscle. EMBO Workshop, Caveolae and Nanodomains, May 2019, Le Pouliguen, France. ⟨hal-03926285⟩
  • Chassagne Julie. RFX1 and RFX3 Transcription Factors Interact with the D Sequence of Adeno-Associated Virus Inverted Terminal Repeat and Regulate AAV Transduction. Congrés de la Société Française de Thérapie Cellulaire et Génique, May 2019, Paris, France. ⟨hal-03921755⟩
  • Jean-François Darrigrand. Over-activation of BMP signaling in neural crest cells precipitates heart outflow tract septation. meeting of the Société Française de Biologie du Développement, 2019, Paris, France. ⟨hal-03926316⟩
  • Cadot Bruno. The nuclear-cytoskeleton connection and nuclear positioning during muscle formation. Laminopathies, 2019, London, United Kingdom. ⟨hal-03926299⟩
  • Catherine Coirault. Mechanobiology defects in myogenic cell with nuclear envelope mutation. GDR Mécanobio, Nov 2018, Montpellier, France. ⟨hal-03944457⟩
  • Stéphane Vassilopoulos. Clathrin plaques form mecanotransduction platforms. Jacques Monod Institute Cytoskeleton meeting, Nov 2018, Paris, France. ⟨hal-03946199⟩
  • Candice Kutchukian, Colline Sanchez, László Csernoch, P. Péter Szentesi, Pankaj B. Agrawal, et al.. Defective Ca2+ signaling in centronuclear myopathies.. 47th European Muscle Conference, Aug 2018, Budapest, Hungary. ⟨hal-02349603⟩
  • Catherine Coirault. Mechanobiology defects in LMNA-related congenital muscular dystrophy. XIII Congrès national AIM, Jun 2018, Gènes, Italy. ⟨hal-03944476⟩
  • Stéphane Vassilopoulos. Clathrin plaques form mecanotransduction platforms. Gordon Research Conference, Endocytosis and Lysosomes, Jun 2018, Andhover, United States. ⟨hal-03933461⟩
  • Catherine Coirault. Lamin A/C is crucial for skeletal muscle plasticity. Gordon Research Conferences, Jun 2018, -, Italy. ⟨hal-03944451⟩
  • Jean-François Darrigrand. Dullard, a phosphatase at the Heart of Outflow tract development and BMP pathway regulation. ESC Working Group: Marseille Cardiovascular Development meeting, 2018, Marseille, France. ⟨hal-03933559⟩
  • Cadot Bruno. The nuclear-cytoskeleton connection and nuclear positioning during muscle formation. Congress of the World Muscle Society, 2018, Mendoza, Argentina. ⟨hal-03933548⟩
  • Jean-François Darrigrand. Dullard, a phosphatase at the Heart of Outflow tract development and BMP pathway regulation. EMBO Imaging Mouse development, EMBL, 2018, Heidelberg, Germany. ⟨hal-03933563⟩
  • Marc Bitoun. Therapy for Dominant Inherited Diseases by Allele-Specific RNA Interference: Successes and Pitfalls. 34th Meeting of the European Section of the International Society for Heart Research, Jul 2017, Hamburg, Germany. ⟨hal-03944482⟩
  • Stéphane Vassilopoulos. 3D Metal-replica EM in the 21st century. French Society for Microscopy 15th meeting, Jul 2017, Bordeaux, France. ⟨hal-03944502⟩
  • Catherine Coirault. Mechanobiology defects in LMNA-related congenital muscular dystrophy. European Intermediate Filaments Meeting, Jun 2017, Saint-Malo, France. ⟨hal-03946249⟩
  • Stéphane Vassilopoulos. Flat clathrin lattices, branched actin and intermediate filaments. European Intermediate Filaments Meeting, Jun 2017, Saint-Malo, France. ⟨hal-03944505⟩
  • Daniel J Owens. Nuclear envelope protein lamin AC is a crucial mechanosensory component of human skeletal muscle. Cell Symbosia. Exercise Metabolism, May 2017, Gothenburg, Sweden. ⟨hal-03944551⟩
  • Agathe Franck. Clatrhin plaques and dynamin 2 form mecanotransduction platforms  . Clathrin Meeting of the University of Warwick, May 2017, Coventry, United Kingdom. ⟨hal-03944487⟩
  • Stéphane Vassilopoulos. Tubular Clathrin/AP2 lattices in 3D cell migration. University of Warwick Clathrin Meeting, May 2017, Coventry, United Kingdom. ⟨hal-03946217⟩
  • Stéphane Vassilopoulos. 3D Metal-replica EM in the 21st century. 9th course on Cytoskeleton of Curie Institute, Apr 2017, Paris, France. ⟨hal-03946197⟩
  • Cadot Bruno. Linc Complex and Microtubule nucleation in muscle cells. SBCF-SFBD joint meeting, Apr 2017, Lyon, France. ⟨hal-03944535⟩
  • Cadot Bruno. Nesprin-1α-dependent microtubule nucleation from the nuclear envelope via Akap450 is necessary for nuclear positioning in muscle cells. COST, 2017, Prague, Czech Republic. ⟨hal-03946194⟩

Poster communications42 document

  • Dimitrios Kourtzas, Rocio Nur Villar-Quiles, Satish Moparthi, C Gartioux, Stéphane Vassilopoulos, et al.. Refined pro-fibrotic cellular models for detailed extracellular matrix analysis in collagen VI-related dystrophies. 8th International Congress in Myology, Apr 2024, Paris, France. ⟨hal-04602727⟩
  • France Piétri‐rouxel, Aly BOURGUIBA VILLENEUVE, Sestina Falcone, Sonia Pezet, Massiré Traoré, et al.. Unraveling the role of GDF5 therapeutic potential in Amyotrophic Lateral Sclerosis. Myology 2024, Apr 2024, Paris, France. ⟨hal-04782464⟩
  • C Gentil, A Vergnol, L Giordani, B Cadot, P Meunier, et al.. Combined treatment GDF5 and AAV-microDystrophin for Duchenne Muscular Dystrophy. Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. 2022. ⟨hal-03944592⟩
  • Ines Akrouf, Julie Chassagne, Pierre Meunier, Zoheir Guesmia, Bruno Cadot, et al.. Modulation of intracellular pathways involved in the AAV trafficking to optimize AAV-based therapies in Duchenne muscular dystrophy and autosomal dominant Centronuclear Myopathy. Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. 2022. ⟨hal-03946260⟩
  • Anne Cécile Durieux, David Arnould, Valentine Allibert, Cloé Paret, Pierre Pelliat, et al.. Targeting myostatin to improve skeletal muscle mass and function in a mouse model of Dnm2-related centronuclear myopathy. Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. 2022. ⟨hal-03953238⟩
  • Sestina Falcone, Marais T., Traoré M., Bourguiba A., Gentil C., et al.. Unraveling the role of GDF5 therapeutic potential in Amyotrophic Lateral Sclerosis. 19 Journée de la societé Française de Myologie, Nov 2022, Toulouse (FR), France. ⟨hal-04002173⟩
  • A Jeannin-Girardon, P Collet, K Chennen, O Poch, Nb Romero, et al.. MYO-xIA : Quantification de marqueurs pathologiques sur coupes histologiques et exploitation de rapport de biopsie par intelligence artificielle explicative pour le diagnostic de myopathies congénitales. Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. 2022. ⟨hal-03953252⟩
  • C Meyer, E Lacene, M Beuvin, T Evangelista, J Laporte, et al.. From the Muscle Atlas to an AI-based diagnostic tool. Congress of the World Muscle Society, Oct 2022, Halifax, Canada. 2022. ⟨hal-03953245⟩
  • Christel Gentil, Lucile Saillard, Amélie Vergnol, Lorenzo Giordani, Bruno Cadot, et al.. GDF5 therapeutic potential for DMD. Myology 2022, Sep 2022, Nice, France. ⟨hal-03994325⟩
  • Eline Lemerle, Jeanne Lainé, Gilles Moulay, Anne Bigot, Vincent Mouly, et al.. Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation. Myology, Sep 2022, Nice, France. 2022. ⟨hal-03953241⟩
  • Delphine Trochet, Bernard Prudhon, Lylia Mekzine, Mégane Lemaitre, Maud Beuvin, et al.. Benefits of therapy by Dynamin 2 mutant specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy. Myology 2022, Sep 2022, Nice, France. 2022. ⟨hal-03892191⟩
  • Saline Jabre, W Hleilel, Catherine Coirault. LaminA/C regulates chromatin organization and transcription in skeletal muscle during mechanical stretch.. Myology, Sep 2022, Nice, France. 2022. ⟨hal-03953255⟩
  • C Meyer, E Lacene, M Beuvin, T Evangelista, J Laporte, et al.. From the Muscle Atlas to an AI-based diagnostic tool. Myology, Sep 2022, Nice, France. 2022. ⟨hal-03953249⟩
  • Sestina Falcone, T. Marais, M. Traoré, C. Gentil, J. Mésseant, et al.. Unraveling the role of GDF5 therapeutic potential in Amyotrophic Lateral Sclerosis. Myology 2022, Sep 2022, Nice (FRANCE), France. ⟨hal-04002164⟩
  • Saline Jabre, W Hleilel, Catherine Coirault. Impact of mechanical stretch on nuclear shape and chromatin organization in skeletal muscle. International Congress on Neuromuscular Diseases ICNMD, Jul 2022, Bruxelles, Belgium. 2022. ⟨hal-03959289⟩
  • Massiré Traoré, Chiara Noviello, Gentil Christel, Julien Messéant, Ericky Caldas, et al.. Therapeutic approach based on GDF5 to counteract age-related muscle wasting. Muscle formation, maintenance, regeneration and pathology-EMBO workshop, Apr 2022, Gouvieux (FR), France. ⟨hal-04002159⟩
  • Trochet Delphine, Dudhal Swati, Mekzine Lylia, Prudhon Bernard, Cadot Bruno, et al.. Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations. Journées de la Société Française de Myologie, 2022, Toulouse, France. 2022. ⟨hal-03875467⟩
  • Christel Gentil, Lucile Saillard, Amélie Vergnol, Lorenzo Giordani, Bruno Cadot, et al.. GDF5 therapeutic potential for DMD. SFM 2021, Nov 2021, St Etienne, France. ⟨hal-03994315⟩
  • Saline Jabre, W Hleilel, Catherine Coirault. Impact of mechanical stretch on nuclear shape and chromatin organization in skeletal muscle.. Journées de la Société Française de Myologie, Nov 2021, Saint Etienne, France. 2021. ⟨hal-03967966⟩
  • Delphine Trochet, Bernard Prudhon, Lylia Mekzine, Mégane Lemaitre, Maud Beuvin, et al.. Benefits of therapy by Dynamin 2 mutant specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy. Journées de la Société Française de Myologie, Nov 2021, Saint-Etienne, France. 2021. ⟨hal-03959305⟩
  • M Depla, A Robé, S Buono, C Koch, Marc Bitoun, et al.. ASO-mediated Dnm2 knockdown ameliorates the centronuclear myopathy phenotype of Dnm2RW/+ mice in a dose-dependent manner after disease onset. Congress of the World Muscle Society, Sep 2021, Virtual, France. 2021. ⟨hal-03959319⟩
  • Gilles Moulay, Isabelle Nelson, Jeanne Lainé, Enzo Cohen, Mégane Lemaître, et al.. The α2-subunit of the AP2 clathrin adaptor as a new causal gene in an atypical myopathy with granulofilamentous inclusions. Congress of the World Muscle Society, Sep 2021, Virtual, France. 2021. ⟨hal-03967904⟩
  • S. Elouej, I. Nelson, E. Cohen, R. Ben Yaou, A. Isapof, et al.. Functional validation of a novel variant of the SPTAN1 gene identified in a family with distal motor myopathy with nerve involvement. 26th International Congress of the World Muscle Society (WMS), Sep 2021, Virtual conference, United Kingdom. Neuromuscular Disorders, 31, pp.S72, 2021, ⟨10.1016/j.nmd.2021.07.100⟩. ⟨hal-03983822⟩
  • Emmanuelle Lacène, Maud Beuvin, Teresinha Evangelista, Norma Romero, Bruno Cadot. Skeletal Muscle Atlas: a tool for the muscle community. Congress of the World Muscle Society, Sep 2020, Virtual, France. ⟨hal-03968094⟩
  • Eline Lemerle, Jeanne Lainé, Gilles Moulay, Anne Bigot, Vincent Mouly, et al.. Role of caveolae in T-tubule biogenesis. Congress of the World Muscle Society, Sep 2020, Virtual, France. ⟨hal-03967986⟩
  • Pierre Pelliat, Anne-Cécile Durieux, Pascale Guicheney, Marc Bitoun, Damien Freyssenet. Mitochondria and skeletal muscle deconditioning in a mouse model of autosomal dominant centronuclear myopathy. Journées de la Société Française de Myologie, Nov 2019, Marseille, France. 2019. ⟨hal-03968174⟩
  • M Annoussamy, J Baets, W De Ridder, D Duchêne, A Grangé, et al.. Clinical changes over time in patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study. Congress of the World Muscle Society, Oct 2019, Copenhagen, Denmark. 2019. ⟨hal-03968157⟩
  • Daniel J. Owens, Martina Fischer, Kamel Mamchaoui, Sophie Moog, Gisèle Bonne, et al.. Nuclear export of YAP requires functional LINC complexes in skeletal muscle. Satellite Meeting​ European Network for Laminopathies Meeting, Sep 2019, London, United Kingdom. ⟨hal-03986932⟩
  • Delphine Trochet, Bernard Prudhon, Arnaud Ferry, Marc Bitoun. Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy. Myology, Mar 2019, Bordeaux, France. 2019. ⟨hal-03968190⟩
  • Jean-François Darrigrand, M Valente, P Martinez, G Comai, M Petit, et al.. The dullard-dependent regulation of BMP signaling in heart outflow tract septation. Myology, Mar 2019, Bordeaux, France. 2019. ⟨hal-03968229⟩
  • Eline Lemerle, Jeanne Lainé, Gilles Moulay, Anne Bigot, Vincent Mouly, et al.. Role of caveolae in skeletal muscle differentiation. Myology, Mar 2019, Bordeaux, France. 2019. ⟨hal-03968207⟩
  • F Azibani, A Brull, L Arandel, M Beuvin, I Nelson, et al.. Gene therapy via trans-splicing for LMNA-related congenital muscular dystrophy. Conference on Changing the Face of Modern Medicine - Stem Cell and Gene Therapy, Oct 2018, Lausanne, Switzerland. Hum. Gene Ther., 29 (12), pp.A138. P379, 2018. ⟨hal-03983935⟩
  • M. Annoussamy, A. Grangé, C. Lilien, V. Chê, D. Duchêne, et al.. Baseline characteristics of patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study. Congress of the World Muscle Society, Oct 2018, Mendoza, Argentina. 2018. ⟨hal-03968282⟩
  • H Tasfaout, S Buono, I Prokic, J Ross, C Kretz, et al.. Targeting dynamin 2 rescues the three main forms of centronuclear myopathies. Congress of the World Muscle Society, Oct 2018, Mendoza, Argentina. 2018. ⟨hal-03968261⟩
  • Julie Chassagne, Laura Julien, Cécile Peccate, Stéphanie Lorain, France Piétri-Rouxel, et al.. RFX1 and RFX3 Transcription Factors Interact with the D Sequence of Adeno-Associated Virus Inverted Terminal Repeat and Regulate AAV Transduction. European Society of Gene and Cell Therapy, 2018, Lausanne, Switzerland. 2018. ⟨hal-03968317⟩
  • A. Guiraud, N. Couturier, V. Buchman, A. Durieux, D. Arnould, et al.. Sh3kbp1 involvement during skeletal muscle fibers formation: a new candidate for centronuclear myopathies. Congress of the World Muscle Society, Oct 2017, Saint Malo, France. 2017. ⟨hal-03968370⟩
  • M. Garibaldi, J. Rendu, E. Lacene, G. Brochier, M. Beuvin, et al.. Morphological spectrum of RYR1 recessive myopathies: Clinical and genetic correlation.. 22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorder, 27, pp.S239, 2017, ⟨10.1016/j.nmd.2017.06.518⟩. ⟨hal-03973385⟩
  • Camila F Almeida, Marc Bitoun, Mariz Vainzof. Satellite cell alteration in DNM2-related centronuclear myopathy. Congress of the World Muscle Society, Oct 2017, Saint Malo, France. 2017. ⟨hal-03968329⟩
  • A. González-Jamett, X. Baez-Matus, M. Bui, P. Guicheney, N. Romero, et al.. Centronuclear myopathy-causing mutations in dynamin-2 impair actin-dependent trafficking in muscle cells. Congress of the World Muscle Society, Oct 2017, Saint Malo, France. 2017. ⟨hal-03968391⟩
  • M Garibaldi, J Rendu, E Lacene, G Brochier, Maud Bauvin, et al.. Morphological spectrum of RYR1 recessive myopathies: clinical and genetic correlation. Congress of the World Muscle Society, Oct 2017, Saint Malo, France. 2017. ⟨hal-03968355⟩
  • Daniel Owens, Julien Messeant, G Herledan, Arnaud Ferry, Anne Bertrand, et al.. Nuclear envelope protein lamin A/C is a crucial mechanosensory component for skeletal muscle plasticity. International Congress of Neuromuscular Disorders, Sep 2017, Ottawa, Canada. 2017. ⟨hal-03968419⟩
  • Petra Gimpel, Yl Lee, Rm Sobota, A Calvi, V Koullourou, et al.. Nesprin-1α-dependent microtubule nucleation from the nuclear envelope via Akap450 is necessary for nuclear positioning in muscle cells. Congress of the American Society for Cell Biology, 2017, Philadelphia, United States. 2017. ⟨hal-03968402⟩

Book sections2 document


Scientific blog post1 document


Patents2 document

  • Delphine Trochet, Marc Bitoun. Allele-specific siRNA therapy for Dynamin 2-related diseases. France, Patent n° : EP22306213.4. 2022. ⟨hal-03968508⟩
  • Delphine Trochet, Bernard Prudhon, Marc Bitoun. Allele-specific silencing therapy for Dynamin 2-related disorders. France, Patent n° : PCT/EP2017/080884. 2017. ⟨hal-03968498⟩

Preprints, Working Papers3 document

  • Larisa Venkova, Amit Singh Vishen, Sergio Lembo, Nishit Srivastava, Baptiste Duchamp, et al.. A mechano-osmotic feedback couples cell volume to the rate of cell deformation. 2023. ⟨hal-04271697⟩
  • Théophile Déjardin, Pietro Salvatore Carollo, Patricia Davidson, Cynthia Seiler, Damien Cuvelier, et al.. LINC complexes are mechanotransducers that discriminate Epithelial-Mesenchymal Transition programs. 2019. ⟨hal-02325877⟩
  • Patricia Davidson, Aude Battistella, Théophile Déjardin, Timo Betz, Julie Plastino, et al.. Actin accumulates nesprin-2 at the front of the nucleus during confined cell migration. 2019. ⟨hal-02325848⟩

Theses6 document

  • Saline Jabre. Impact of mechanical stress on nucleus morphology and transcription on skeletal muscle. Cellular Biology. Sorbonne Université; Université Saint-Esprit (Kaslik, Liban), 2022. English. ⟨NNT : 2022SORUS561⟩. ⟨tel-04317459⟩
  • Eline Lemerle. Rôle des cavéoles dans la formation des tubules-T et dans la physiopathologie des cavéolinopathies. Biologie cellulaire. Sorbonne Université, 2021. Français. ⟨NNT : 2021SORUS010⟩. ⟨tel-03660519⟩
  • Julie Chassagne. Mécanismes moléculaires impliqués dans l’efficacité de transduction des vecteurs AAV dans le muscle dystrophique. Biologie moléculaire. Sorbonne Université, 2019. Français. ⟨NNT : 2019SORUS514⟩. ⟨tel-03375648⟩
  • Jean-François Darrigrand. Influence of BMP signaling on neural crest cells during heart outflow tract septation. Development Biology. Sorbonne Université, 2019. English. ⟨NNT : 2019SORUS085⟩. ⟨tel-03141362⟩
  • Nada Essawy. Characterization of emerin LEM-domain missense mutations present in patients with exclusive atrial cardiac defects. Cellular Biology. Sorbonne Université; Freie Universität (Berlin), 2018. English. ⟨NNT : 2018SORUS299⟩. ⟨tel-02501163⟩
  • Agathe Franck. Role of endocytic proteins in mechanotransduction and impact on autosomal dominant centronuclear myopathy. Cellular Biology. Sorbonne Université, 2018. English. ⟨NNT : 2018SORUS453⟩. ⟨tel-02926061⟩

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Agence nationale de la recherche
Inserm Transfert
SU Emergence
Myotubular trust
USEK
Campus France
Julie Chassagne, doctorante (2019)
Julie Chassagne, doctorante (2019)
Julie Chassagne, doctorante (2019)
Julie Chassagne, doctorante (2019)
Eline Lemerle, doctorante (2020)
Eline Lemerle, doctorante (2020)
Préparation d'échantillons pour la microscopie électronique
Préparation d'échantillons pour la microscopie électronique
Delphine Trochet, chercheuse
Delphine Trochet, chercheuse
Cover MBoC - Platinum-replica transmission electron microscopy of myotube plasma membranes showing large clathrin lattices (pseudocolored in red) associated with cytoskeletal filaments
Cover MBoC - Platinum-replica transmission electron microscopy of myotube plasma membranes showing large clathrin lattices (pseudocolored in red) associated with cytoskeletal filaments
Marquage histologique DPNH (reduced diphosphopyridine nucleotide diaphorase) des compartiments oxydatifs d’une coupe de muscle de souris mutée DNM2 montrant leur accumulation au centre de certaines fibres (Astérisques) (Echelle : 50µm).
Marquage histologique DPNH (reduced diphosphopyridine nucleotide diaphorase) des compartiments oxydatifs d’une coupe de muscle de souris mutée DNM2 montrant leur accumulation au centre de certaines fibres (Astérisques) (Echelle : 50µm).
Marquage histologique Hématoxyline-Eosine d’une coupe de muscle de souris. Fibre en rose, noyau en violet (Echelle : 50µm).
Marquage histologique Hématoxyline-Eosine d’une coupe de muscle de souris. Fibre en rose, noyau en violet (Echelle : 50µm).
Cover JCB - Quick-freeze, deep-etch transmission electron microscopy of myotube plasma membranes shows an abundance of large clathrin lattices (depicted in various pseudocolors) associated with branched actin filaments. Vassilopoulos et al. reveal that these clathrin plaques help to organize skeletal muscle sarcomeres and attach them to the muscle cell membrane ©Stéphane Vassilopoulos
Cover JCB - Quick-freeze, deep-etch transmission electron microscopy of myotube plasma membranes shows an abundance of large clathrin lattices (depicted in various pseudocolors) associated with branched actin filaments. Vassilopoulos et al. reveal that these clathrin plaques help to organize skeletal muscle sarcomeres and attach them to the muscle cell membrane ©Stéphane Vassilopoulos
Cover JCB - Metal-replica electron microscopy image showing the formation of finger-like actin-based protrusions at the basal membrane of fusing satellite cells. Image is a high-resolution view of the cytoplasmic surface of the plasma membrane from control muscle cells differentiated for 24 h. Protrusions traceable below the acceptor cell are pseudocolored
Cover JCB - Metal-replica electron microscopy image showing the formation of finger-like actin-based protrusions at the basal membrane of fusing satellite cells. Image is a high-resolution view of the cytoplasmic surface of the plasma membrane from control muscle cells differentiated for 24 h. Protrusions traceable below the acceptor cell are pseudocolored
Platinum-replica electron microscopy showing the inner surface of the plasma membrane of a cultured Hs578T cancer cell. Caveolae are pseudocolored purple.
Platinum-replica electron microscopy showing the inner surface of the plasma membrane of a cultured Hs578T cancer cell. Caveolae are pseudocolored purple.

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