Search Results - "Bitoun, Marc"

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  1. 1

    A review of Dynamin 2 involvement in cancers highlights a promising therapeutic target by Trochet, Delphine, Bitoun, Marc

    “…Dynamin 2 (DNM2) is an ubiquitously expressed large GTPase well known for its role in vesicle formation in endocytosis and intracellular membrane trafficking…”
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    Satellite cells deficiency and defective regeneration in dynamin 2‐related centronuclear myopathy by Almeida, Camila, Bitoun, Marc, Vainzof, Mariz

    Published in The FASEB journal (01-04-2021)
    “…Dynamin 2 (DNM2) is a ubiquitously expressed protein involved in many functions related to trafficking and remodeling of membranes and cytoskeleton dynamics…”
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    A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy by Puri, Claudia, Manni, Marco M., Vicinanza, Mariella, Hilcenko, Christine, Zhu, Ye, Runwal, Gautam, Stamatakou, Eleanna, Menzies, Fiona M., Mamchaoui, Kamel, Bitoun, Marc, Rubinsztein, David C.

    Published in Developmental cell (20-04-2020)
    “…Autophagy involves engulfment of cytoplasmic contents by double-membraned autophagosomes, which ultimately fuse with lysosomes to enable degradation of their…”
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    Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle by Franck, Agathe, Lainé, Jeanne, Moulay, Gilles, Lemerle, Eline, Trichet, Michaël, Gentil, Christel, Benkhelifa-Ziyyat, Sofia, Lacène, Emmanuelle, Bui, Mai Thao, Brochier, Guy, Guicheney, Pascale, Romero, Norma, Bitoun, Marc, Vassilopoulos, Stéphane

    Published in Molecular biology of the cell (01-03-2019)
    “…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…”
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    Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model by Fongy, Anaïs, Falcone, Sestina, Lainé, Jeanne, Prudhon, Bernard, Martins-Bach, Aurea, Bitoun, Marc

    Published in Scientific reports (07-02-2019)
    “…Dynamin 2 (DNM2) is a key protein of the endocytosis and intracellular membrane trafficking machinery. Mutations in the DNM2 gene cause autosomal dominant…”
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    Muscle regeneration affects Adeno Associated Virus 1 mediated transgene transcription by Mollard, Amédée, Peccate, Cécile, Forand, Anne, Chassagne, Julie, Julien, Laura, Meunier, Pierre, Guesmia, Zoheir, Marais, Thibaut, Bitoun, Marc, Piétri-Rouxel, France, Benkhelifa-Ziyyat, Sofia, Lorain, Stéphanie

    Published in Scientific reports (11-06-2022)
    “…Duchenne muscular dystrophy is a severe neuromuscular disease causing a progressive muscle wasting due to mutations in the DMD gene that lead to the absence of…”
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    Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation by Lemerle, Eline, Lainé, Jeanne, Benoist, Marion, Moulay, Gilles, Bigot, Anne, Labasse, Clémence, Madelaine, Angéline, Canette, Alexis, Aubin, Perrine, Vallat, Jean-Michel, Romero, Norma B, Bitoun, Marc, Mouly, Vincent, Marty, Isabelle, Cadot, Bruno, Picas, Laura, Vassilopoulos, Stéphane

    Published in eLife (21-04-2023)
    “…Excitation-contraction coupling requires a highly specialized membrane structure, the triad, composed of a plasma membrane invagination, the T-tubule,…”
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    Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations by Dudhal, Swati, Mekzine, Lylia, Prudhon, Bernard, Soocheta, Karishma, Cadot, Bruno, Mamchaoui, Kamel, Trochet, Delphine, Bitoun, Marc

    Published in Molecular therapy. Nucleic acids (13-09-2022)
    “…Dominant centronuclear myopathy (CNM) is a rare form of congenital myopathy associated with a wide clinical spectrum, from severe neonatal to milder adult…”
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    An alternative mechanism of clathrin-coated pit closure revealed by ion conductance microscopy by Shevchuk, Andrew I, Novak, Pavel, Taylor, Marcus, Diakonov, Ivan A, Ziyadeh-Isleem, Azza, Bitoun, Marc, Guicheney, Pascale, Lab, Max J, Gorelik, Julia, Merrifield, Christien J, Klenerman, David, Korchev, Yuri E

    Published in The Journal of cell biology (14-05-2012)
    “…Current knowledge of the structural changes taking place during clathrin-mediated endocytosis is largely based on electron microscopy images of fixed…”
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    A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice by Durieux, Anne-Cécile, Vignaud, Alban, Prudhon, Bernard, Viou, Mai Thao, Beuvin, Maud, Vassilopoulos, Stéphane, Fraysse, Bodvaël, Ferry, Arnaud, Lainé, Jeanne, Romero, Norma B., Guicheney, Pascale, Bitoun, Marc

    Published in Human molecular genetics (15-12-2010)
    “…Autosomal dominant centronuclear myopathy (AD-CNM) is due to mutations in the gene encoding dynamin 2 (DNM2) involved in endocytosis and intracellular membrane…”
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    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy by Böhm, Johann, Biancalana, Valérie, DeChene, Elizabeth T., Bitoun, Marc, Pierson, Christopher R., Schaefer, Elise, Karasoy, Hatice, Dempsey, Melissa A., Klein, Fabrice, Dondaine, Nicolas, Kretz, Christine, Haumesser, Nicolas, Poirson, Claire, Toussaint, Anne, Greenleaf, Rebecca S., Barger, Melissa A., Mahoney, Lane J., Kang, Peter B., Zanoteli, Edmar, Vissing, John, Witting, Nanna, Echaniz-Laguna, Andoni, Wallgren-Pettersson, Carina, Dowling, James, Merlini, Luciano, Oldfors, Anders, Bomme Ousager, Lilian, Melki, Judith, Krause, Amanda, Jern, Christina, Oliveira, Acary S. B., Petit, Florence, Jacquette, Aurélia, Chaussenot, Annabelle, Mowat, David, Leheup, Bruno, Cristofano, Michele, Poza Aldea, Juan José, Michel, Fabrice, Furby, Alain, Llona, Jose E. Barcena, Van Coster, Rudy, Bertini, Enrico, Urtizberea, Jon Andoni, Drouin-Garraud, Valérie, Béroud, Christophe, Prudhon, Bernard, Bedford, Melanie, Mathews, Katherine, Erby, Lori A. H., Smith, Stephen A., Roggenbuck, Jennifer, Crowe, Carol A., Brennan Spitale, Allison, Johal, Sheila C., Amato, Anthony A., Demmer, Laurie A., Jonas, Jessica, Darras, Basil T., Bird, Thomas D., Laurino, Mercy, Welt, Selman I., Trotter, Cynthia, Guicheney, Pascale, Das, Soma, Mandel, Jean-Louis, Beggs, Alan H., Laporte, Jocelyn

    Published in Human mutation (01-06-2012)
    “…Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy,…”
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    Mutations in dynamin 2 cause dominant centronuclear myopathy by Laporte, Jocelyn, Bitoun, Marc, Guicheney, Pascale, Ferrer, Xavier, Lacène, Emmanuelle, Lochmüller, Hanns, Fardeau, Michel, Maugenre, Svetlana, Jeannet, Pierre-Yves, Martin, Jean-Jacques, Laforêt, Pascal, Romero, Norma B, Eymard, Bruno, Beggs, Alan H

    Published in Nature genetics (01-11-2005)
    “…Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. In 11 families…”
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    Therapy for dominant inherited diseases by allele-specific RNA interference: successes and pitfalls by Trochet, Delphine, Prudhon, Bernard, Vassilopoulos, Stéphane, Bitoun, Marc

    Published in Current gene therapy (01-01-2015)
    “…RNA interference (RNAi) is a conserved mechanism for post-transcriptional gene silencing mediated by messenger RNA (mRNA) degradation. RNAi is commonly induced…”
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