Search Results - "Furling, Denis"

Cas9 targeting of toxic foci of RNA repeats by Furling, Denis

“…The sustained expression of RNA-targeting Cas9 delivered intramuscularly or systemically by adeno-associated viral vectors eliminates pathogenic foci of…”
Get full text

Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds by Arandel, Ludovic, Polay Espinoza, Micaela, Matloka, Magdalena, Bazinet, Audrey, De Dea Diniz, Damily, Naouar, Naïra, Rau, Frédérique, Jollet, Arnaud, Edom-Vovard, Frédérique, Mamchaoui, Kamel, Tarnopolsky, Mark, Puymirat, Jack, Battail, Christophe, Boland, Anne, Deleuze, Jean-Francois, Mouly, Vincent, Klein, Arnaud F, Furling, Denis

“…Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant neuromuscular diseases caused by microsatellite expansions and belong to the family of…”
Get full text

Steroid receptor RNA activator protein binds to and counteracts SRA RNA-mediated activation of MyoD and muscle differentiation by Hubé, Florent, Velasco, Guillaume, Rollin, Jérôme, Furling, Denis, Francastel, Claire

“…The steroid receptor RNA activator (SRA) has the unusual property to function as both a non-coding RNA (ncRNA) and a protein SRAP. SRA ncRNA is known to…”
Get full text

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…”
Get full text

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy by Freyermuth, Fernande, Rau, Frédérique, Kokunai, Yosuke, Linke, Thomas, Sellier, Chantal, Nakamori, Masayuki, Kino, Yoshihiro, Arandel, Ludovic, Jollet, Arnaud, Thibault, Christelle, Philipps, Muriel, Vicaire, Serge, Jost, Bernard, Udd, Bjarne, Day, John W., Duboc, Denis, Wahbi, Karim, Matsumura, Tsuyoshi, Fujimura, Harutoshi, Mochizuki, Hideki, Deryckere, François, Kimura, Takashi, Nukina, Nobuyuki, Ishiura, Shoichi, Lacroix, Vincent, Campan-Fournier, Amandine, Navratil, Vincent, Chautard, Emilie, Auboeuf, Didier, Horie, Minoru, Imoto, Keiji, Lee, Kuang-Yung, Swanson, Maurice S., de Munain, Adolfo Lopez, Inada, Shin, Itoh, Hideki, Nakazawa, Kazuo, Ashihara, Takashi, Wang, Eric, Zimmer, Thomas, Furling, Denis, Takahashi, Masanori P., Charlet-Berguerand, Nicolas

“…Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to…”
Get full text

Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I by Brockhoff, Marielle, Rion, Nathalie, Chojnowska, Kathrin, Wiktorowicz, Tatiana, Eickhorst, Christopher, Erne, Beat, Frank, Stephan, Angelini, Corrado, Furling, Denis, Rüegg, Markus A, Sinnreich, Michael, Castets, Perrine

“…Myotonic dystrophy type I (DM1) is a disabling multisystemic disease that predominantly affects skeletal muscle. It is caused by expanded CTG repeats in the…”
Get full text

A CRISPR-Cas13a Based Strategy That Tracks and Degrades Toxic RNA in Myotonic Dystrophy Type 1 by Zhang, Nan, Bewick, Brittani, Xia, Guangbin, Furling, Denis, Ashizawa, Tetsuo

“…Cas13a, an effector of type VI CRISPR-Cas systems, is an RNA guided RNase with multiplexing and therapeutic potential. This study employs the ( ) Cas13a and a…”
Get full text

Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice by Lo Scrudato, Mirella, Poulard, Karine, Sourd, Célia, Tomé, Stéphanie, Klein, Arnaud F., Corre, Guillaume, Huguet, Aline, Furling, Denis, Gourdon, Geneviève, Buj-Bello, Ana

“…Myotonic dystrophy type 1 (DM1) is caused by a CTG repeat expansion located in the 3′ UTR of the DMPK gene. Expanded DMPK transcripts aggregate into nuclear…”
Get full text

The beneficial effect of chronic muscular exercise on muscle fragility is increased by Prox1 gene transfer in dystrophic mdx muscle by Monceau, Alexandra, Delacroix, Clément, Lemaitre, Mégane, Revet, Gaelle, Furling, Denis, Agbulut, Onnik, Klein, Arnaud, Ferry, Arnaud

“…Greater muscle fragility is thought to cause the exhaustion of the muscle stem cells during successive degeneration/repair cycles, leading to muscle wasting…”
Get full text

CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing by van Agtmaal, Ellen L., André, Laurène M., Willemse, Marieke, Cumming, Sarah A., van Kessel, Ingeborg D.G., van den Broek, Walther J.A.A., Gourdon, Geneviève, Furling, Denis, Mouly, Vincent, Monckton, Darren G., Wansink, Derick G., Wieringa, Bé

“…Myotonic dystrophy type 1 (DM1) is caused by (CTG⋅CAG)n-repeat expansion within the DMPK gene and thought to be mediated by a toxic RNA gain of function…”
Get full text

Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells by Dastidar, Sumitava, Ardui, Simon, Singh, Kshitiz, Majumdar, Debanjana, Nair, Nisha, Fu, Yanfang, Reyon, Deepak, Samara, Ermira, Gerli, Mattia F M, Klein, Arnaud F, De Schrijver, Wito, Tipanee, Jaitip, Seneca, Sara, Tulalamba, Warut, Wang, Hui, Chai, Yoke Chin, In't Veld, Peter, Furling, Denis, Tedesco, Francesco Saverio, Vermeesch, Joris R, Joung, J Keith, Chuah, Marinee K, VandenDriessche, Thierry

“…Abstract CRISPR/Cas9 is an attractive platform to potentially correct dominant genetic diseases by gene editing with unprecedented precision. In the current…”
Get full text

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences by Sellier, Chantal, Cerro-Herreros, Estefanía, Blatter, Markus, Freyermuth, Fernande, Gaucherot, Angeline, Ruffenach, Frank, Sarkar, Partha, Puymirat, Jack, Udd, Bjarne, Day, John W., Meola, Giovanni, Bassez, Guillaume, Fujimura, Harutoshi, Takahashi, Masanori P., Schoser, Benedikt, Furling, Denis, Artero, Ruben, Allain, Frédéric H. T., Llamusi, Beatriz, Charlet-Berguerand, Nicolas

“…Myotonic dystrophy type 1 and type 2 (DM1, DM2) are caused by expansions of CTG and CCTG repeats, respectively. RNAs containing expanded CUG or CCUG repeats…”
Get full text

Improvement of Dystrophic Muscle Fragility by Short-Term Voluntary Exercise through Activation of Calcineurin Pathway in mdx Mice by Delacroix, Clement, Hyzewicz, Janek, Lemaitre, Megane, Friguet, Bertrand, Li, Zhenlin, Klein, Arnaud, Furling, Denis, Agbulut, Onnik, Ferry, Arnaud

“…Dystrophin deficiency in mdx mice, a model for Duchenne muscular dystrophy, leads to muscle weakness revealed by a reduced specific maximal force as well as…”
Get full text

Expression of miR-1, miR-133a, miR-133b and miR-206 increases during development of human skeletal muscle by Koutsoulidou, Andrie, Mastroyiannopoulos, Nikolaos P, Furling, Denis, Uney, James B, Phylactou, Leonidas A

“…MicroRNAs (miRNAs) are small RNA molecules that post-transcriptionally regulate gene expression and have been shown to play an important role during…”
Get full text

Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus by Huguet, Aline, Medja, Fadia, Nicole, Annie, Vignaud, Alban, Guiraud-Dogan, Céline, Ferry, Arnaud, Decostre, Valérie, Hogrel, Jean-Yves, Metzger, Friedrich, Hoeflich, Andreas, Baraibar, Martin, Gomes-Pereira, Mário, Puymirat, Jack, Bassez, Guillaume, Furling, Denis, Munnich, Arnold, Gourdon, Geneviève

“…Myotonic dystrophy type 1 (DM1) is caused by an unstable CTG repeat expansion in the 3'UTR of the DM protein kinase (DMPK) gene. DMPK transcripts carrying CUG…”
Get full text

Selective silencing of mutated mRNAs in DM1 by using modified hU7-snRNAs by Furling, Denis, François, Virginie, Klein, Arnaud F, Beley, Cyriaque, Jollet, Arnaud, Lemercier, Camille, Garcia, Luis

“…We describe a function for modified human U7 small nuclear RNAs (hU7-snRNAs) distinct from modification of pre-mRNA splicing events. Engineered hU7-snRNAs…”
Get full text

RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1 by Klinck, Roscoe, Fourrier, Angélique, Thibault, Philippe, Toutant, Johanne, Durand, Mathieu, Lapointe, Elvy, Caillet-Boudin, Marie-Laure, Sergeant, Nicolas, Gourdon, Geneviève, Meola, Giovanni, Furling, Denis, Puymirat, Jack, Chabot, Benoit

“…With the goal of identifying splicing alterations in myotonic dystrophy 1 (DM1) tissues that may yield insights into targets or mechanisms, we have surveyed…”
Get full text

In-depth analysis of the secretome identifies three major independent secretory pathways in differentiating human myoblasts by Le Bihan, Marie-Catherine, Bigot, Anne, Jensen, Søren Skov, Dennis, Jayne L., Rogowska-Wrzesinska, Adelina, Lainé, Jeanne, Gache, Vincent, Furling, Denis, Jensen, Ole Nørregaard, Voit, Thomas, Mouly, Vincent, Coulton, Gary R., Butler-Browne, Gillian

“…Efficient muscle regeneration requires cross talk between multiple cell types via secreted signaling molecules. However, as yet there has been no comprehensive…”
Get full text

Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy by Mulders, Susan A.M, van den Broek, Walther J.A.A, Wheeler, Thurman M, Croes, Huib J.E, van Kuik-Romeijn, Petra, de Kimpe, Sjef J, Furling, Denis, Platenburg, Gerard J, Gourdon, Geneviève, Thornton, Charles A, Wieringa, Bé, Wansink, Derick G

“…Myotonic dystrophy type 1 (DM1) is caused by toxicity of an expanded, noncoding (CUG)n tract in DM protein kinase (DMPK) transcripts. According to current…”
Get full text

Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1 by Voellenkle, Christine, Perfetti, Alessandra, Carrara, Matteo, Fuschi, Paola, Renna, Laura Valentina, Longo, Marialucia, Sain, Simona Baghai, Cardani, Rosanna, Valaperta, Rea, Silvestri, Gabriella, Legnini, Ivano, Bozzoni, Irene, Furling, Denis, Gaetano, Carlo, Falcone, Germana, Meola, Giovanni, Martelli, Fabio

“…Circular RNAs (circRNAs) constitute a recently re-discovered class of non-coding RNAs functioning as sponges for miRNAs and proteins, affecting RNA splicing…”
Get full text