Search Results - "Prudhon, Bernard"

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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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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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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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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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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Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy by Trochet, Delphine, Prudhon, Bernard, Mekzine, Lylia, Lemaitre, Mégane, Beuvin, Maud, Julien, Laura, Benkhelifa-Ziyyat, Sofia, Bui, Mai Thao, Romero, Norma, Bitoun, Marc

“…Dominant dynamin 2 (DNM2) mutations are responsible for the autosomal dominant centronuclear myopathy (AD-CNM), a rare progressive neuromuscular disorder…”
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Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy by Azibani, Feriel, Brull, Astrid, Arandel, Ludovic, Beuvin, Maud, Nelson, Isabelle, Jollet, Arnaud, Ziat, Esma, Prudhon, Bernard, Benkhelifa-Ziyyat, Sofia, Bitoun, Marc, Lorain, Stéphanie, Bonne, Gisèle, Bertrand, Anne T.

“…We assessed the potential of Lmna-mRNA repair by spliceosome-mediated RNA trans-splicing as a therapeutic approach for LMNA-related congenital muscular…”
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A Centronuclear Myopathy – Dynamin 2 Mutation Impairs Autophagy in Mice by Durieux, Anne‐Cécile, Vassilopoulos, Stéphane, Lainé, Jeanne, Fraysse, Bodvaël, Briñas, Laura, Prudhon, Bernard, Castells, Josiane, Freyssenet, Damien, Bonne, Gisèle, Guicheney, Pascale, Bitoun, Marc

“…Dynamin 2 (Dnm2) is involved in endocytosis and intracellular membrane trafficking through its function in vesicle formation from distinct membrane…”
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Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders by Malfatti, Edoardo, Olivé, Montse, Taratuto, Ana Lía, Richard, Pascale, Brochier, Guy, Bitoun, Marc, Gueneau, Lucie, Laforêt, Pascal, Stojkovic, Tanya, Maisonobe, Thierry, Monges, Soledad, Lubieniecki, Fabiana, Vasquez, Gabriel, Streichenberger, Nathalie, Lacène, Emmanuelle, Saccoliti, Maria, Prudhon, Bernard, Alexianu, Marilena, Figarella-Branger, Dominique, Schessl, Joachim, Bonnemann, Carsten, Eymard, Bruno, Fardeau, Michel, Bonne, Gisèle, Romero, Norma Beatriz

“…ABSTRACTFHL1 mutations have been associated with various disorders that include reducing body myopathy (RBM), Emery-Dreifuss–like muscular dystrophy, isolated…”
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Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing by Trochet, Delphine, Prudhon, Bernard, Jollet, Arnaud, Lorain, Stéphanie, Bitoun, Marc

“…Dynamin 2 (DNM2) is a large GTPase, ubiquitously expressed, involved in membrane trafficking and regulation of actin and microtubule cytoskeletons. DNM2…”
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Dynamin 2 and human diseases by Durieux, Anne-Cécile, Prudhon, Bernard, Guicheney, Pascale, Bitoun, Marc

“…Dynamin 2 (DNM2) mutations cause autosomal dominant centronuclear myopathy, a rare form of congenital myopathy, and intermediate and axonal forms of…”
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Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset by Bitoun, Marc, Bevilacqua, Jorge A., Prudhon, Bernard, Maugenre, Svetlana, Taratuto, Ana Lia, Monges, Soledad, Lubieniecki, Fabiana, Cances, Claude, Uro-Coste, Emmanuelle, Mayer, Michèle, Fardeau, Michel, Romero, Norma B., Guicheney, Pascale

“…We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years. They all presented with neonatal hypotonia…”
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Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis by Bitoun, Marc, Durieux, Anne-Cécile, Prudhon, Bernard, Bevilacqua, Jorge A, Herledan, Adrien, Sakanyan, Vehary, Urtizberea, Andoni, Cartier, Luis, Romero, Norma B, Guicheney, Pascale

“…Dynamin 2 (DNM2) is a large GTPase involved in the release of nascent vesicles during endocytosis and intracellular membrane trafficking. Distinct DNM2…”
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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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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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A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings by Bitoun, Marc, Stojkovic, Tanya, Prudhon, Bernard, Maurage, Claude-Alain, Latour, Philippe, Vermersch, Patrick, Guicheney, Pascale

“…Abstract Mutations in dynamin 2 (DNM2) have been associated with autosomal dominant centronuclear myopathy, dominant intermediate Charcot-Marie-Tooth (CMT)…”
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Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice by CARRIER, Lucie, KNÖLL, Ralph, SCHWARTZ, Ketty, CHIEN, Kenneth R, VIGNIER, Nicolas, KELLER, Dagmar I, BAUSERO, Pedro, PRUDHON, Bernard, ISNARD, Richard, AMBROISINE, Marie-Lory, FISZMAN, Marc, ROSS, John JR

“…Cardiac myosin-binding protein C (cMyBP-C) gene mutations are involved in familial hypertrophic cardiomyopathy (FHC). Many of these mutations produce truncated…”
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A NEW CENTRONUCLEAR MYOPATHY PHENOTYPE DUE TO A NOVEL DYNAMIN 2 MUTATION by BITOUN, M, BEVILACQUA, J. A, EYMARD, B, PRUDHON, B, FARDEAU, M, GUICHENEY, P, ROMERO, N. B

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Administration of insulin-like growth factor-1 (IGF-1) improves both structure and function of delta-sarcoglycan deficient cardiac muscle in the hamster by Serose, Armelle, Prudhon, Bernard, Salmon, André, Doyennette, Marie-Agnès, Fiszman, Marc Y, Fromes, Yves

“…Dilated cardiomyopathies (DCM) are due to progressive dilatation of the cardiac cavities and thinning of the ventricular walls and lead unavoidably to heart…”
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Targeted inactivation of the murine cardiac myosin-binding protein C gene leads to hypertrophic cardiomyopathy by Carrier, Lucie, Knöll, Ralph, Vignier, Nicolas, Keller, Dagmar, Prudhon, Bernard, Fiszman, Marc, Ross, John, Schwartz, Ketty, Chien, Kenneth R.

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