Search Results - "BITOUN, Marc"

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

“…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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Alternative splicing of clathrin heavy chain contributes to the switch from coated pits to plaques by Moulay, Gilles, Lainé, Jeanne, Lemaître, Mégane, Nakamori, Masayuki, Nishino, Ichizo, Caillol, Ghislaine, Mamchaoui, Kamel, Julien, Laura, Dingli, Florent, Loew, Damarys, Bitoun, Marc, Leterrier, Christophe, Furling, Denis, Vassilopoulos, Stéphane

“…Clathrin function directly derives from its coat structure, and while endocytosis is mediated by clathrin-coated pits, large plaques contribute to cell…”
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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.

“…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

“…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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Correlative SICM‐FCM reveals changes in morphology and kinetics of endocytic pits induced by disease‐associated mutations in dynamin by Ali, Tayyibah, Bednarska, Joanna, Vassilopoulos, Stéphane, Tran, Martin, Diakonov, Ivan A., Ziyadeh-Isleem, Azza, Guicheney, Pascale, Gorelik, Julia, Korchev, Yuri E., Reilly, Mary M., Bitoun, Marc, Shevchuk, Andrew

“…ABSTRACT Dynamin 2 (DNM2) is a GTP‐binding protein that controls endocytic vesicle scission and defines a whole class of dynamin‐dependent endocytosis,…”
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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

“…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

“…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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Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy by Trochet, Delphine, Prudhon, Bernard, Beuvin, Maud, Peccate, Cécile, Lorain, Stéphanie, Julien, Laura, Benkhelifa‐Ziyyat, Sofia, Rabai, Aymen, Mamchaoui, Kamel, Ferry, Arnaud, Laporte, Jocelyn, Guicheney, Pascale, Vassilopoulos, Stéphane, Bitoun, Marc

“…Rapid advances in allele‐specific silencing by RNA interference established a strategy of choice to cure dominant inherited diseases by targeting mutant…”
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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

“…Excitation-contraction coupling requires a highly specialized membrane structure, the triad, composed of a plasma membrane invagination, the T-tubule,…”
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Centronuclear Myopathies by Romero, Norma B., MD, PhD, Bitoun, Marc, PhD

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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations by BÖHM, Johann, BIANCALANA, Valérie, LAFORET, Pascal, MAISONOBE, Thierry, OLIVE, Montse, GONZALEZ-MERA, Laura, FARDEAU, Michel, CARRIERE, Nathalie, CLAVELOU, Pierre, EYMARD, Bruno, BITOUN, Marc, RENDU, John, MALFATTI, Edoardo, FAURE, Julien, WEIS, Joachim, MANDEL, Jean-Louis, ROMERO, Norma B, LAPORTE, Jocelyn, DONDAINE, Nicolas, KOCH, Catherine, VASLI, Nasim, KRESS, Wolfram, STRITTMATTER, Matthias, TARATUTO, Ana Lia, GONORAZKY, Hernan

“…Centronuclear myopathies are congenital muscle disorders characterized by type I myofibre predominance and an increased number of muscle fibres with nuclear…”
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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

“…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

“…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

“…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

“…Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy,…”
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Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells by González-Jamett, Arlek M., Baez-Matus, Ximena, Olivares, María José, Hinostroza, Fernando, Guerra-Fernández, Maria José, Vasquez-Navarrete, Jacqueline, Bui, Mai Thao, Guicheney, Pascale, Romero, Norma Beatriz, Bevilacqua, Jorge A., Bitoun, Marc, Caviedes, Pablo, Cárdenas, Ana M.

“…Dynamin-2 is a ubiquitously expressed GTP-ase that mediates membrane remodeling. Recent findings indicate that dynamin-2 also regulates actin dynamics…”
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Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization by Vassilopoulos, Stéphane, Gentil, Christel, Lainé, Jeanne, Buclez, Pierre-Olivier, Franck, Agathe, Ferry, Arnaud, Précigout, Guillaume, Roth, Robyn, Heuser, John E, Brodsky, Frances M, Garcia, Luis, Bonne, Gisèle, Voit, Thomas, Piétri-Rouxel, France, Bitoun, Marc

“…The ubiquitous clathrin heavy chain (CHC), the main component of clathrin-coated vesicles, is well characterized for its role in intracellular membrane traffic…”
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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

“…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

“…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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