Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Cécile Peccate"'
Autor:
Déborah Cardoso, Solenn Guilbert, Philippe Guigue, Aurélie Carabalona, Karim Harhouri, Cécile Peccate, Johana Tournois, Zoheir Guesmia, Lino Ferreira, Catherine Bartoli, Nicolas Levy, Laurence Colleaux, Xavier Nissan, Antoine Muchir
Publikováno v:
Cell Death and Disease, Vol 15, Iss 10, Pp 1-14 (2024)
Abstract Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder associated with features of accelerated aging. HGPS is an autosomal dominant disease caused by a de novo mutation of LMNA gene, encoding A-type lamins, resulti
Externí odkaz:
https://doaj.org/article/dc9bc6f3476e46378df90ad4de499f20
Autor:
Caroline Le Dour, Maria Chatzifrangkeskou, Coline Macquart, Maria M. Magiera, Cécile Peccate, Charlène Jouve, Laura Virtanen, Tiina Heliö, Katriina Aalto-Setälä, Silvia Crasto, Bruno Cadot, Déborah Cardoso, Nathalie Mougenot, Daniel Adesse, Elisa Di Pasquale, Jean-Sébastien Hulot, Pekka Taimen, Carsten Janke, Antoine Muchir
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-21 (2022)
Lamin A/C gene mutations cause dilated cardiomyopathy associated with cofilin-1 phosphorylation and actin destabilization. Here, the authors show that phosphorylated cofilin-1 blunts the MRTF-A/SRF axis, leading to decreased tubulin acetylation and a
Externí odkaz:
https://doaj.org/article/ef932080f9164edd9c93891a4153a646
Autor:
Amédée Mollard, Cécile Peccate, Anne Forand, Julie Chassagne, Laura Julien, Pierre Meunier, Zoheir Guesmia, Thibaut Marais, Marc Bitoun, France Piétri-Rouxel, Sofia Benkhelifa-Ziyyat, Stéphanie Lorain
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract 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 dystrophin protein. Adeno-associated virus (AAV)-based therapies aiming to restor
Externí odkaz:
https://doaj.org/article/5ed91629937e4299abe5d7e2bb11aa5c
Autor:
Francesco Girardi, Anissa Taleb, Majid Ebrahimi, Asiman Datye, Dilani G. Gamage, Cécile Peccate, Lorenzo Giordani, Douglas P. Millay, Penney M. Gilbert, Bruno Cadot, Fabien Le Grand
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
The fusion of muscle progenitor cells to form syncytial myofibers is required for skeletal muscle development and regeneration. Here, the authors describe a novel and specific molecular regulation of muscle cell fusion driven by transforming growth f
Externí odkaz:
https://doaj.org/article/7fadbaa35ce8442d9d056195a3a35cf8
Autor:
Inès Barthélémy, Nadège Calmels, Robert B. Weiss, Laurent Tiret, Adeline Vulin, Nicolas Wein, Cécile Peccate, Carole Drougard, Christophe Beroud, Nathalie Deburgrave, Jean-Laurent Thibaud, Catherine Escriou, Isabel Punzón, Luis Garcia, Jean-Claude Kaplan, Kevin M. Flanigan, France Leturcq, Stéphane Blot
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-22 (2020)
Abstract Background Canine models of Duchenne muscular dystrophy (DMD) are a valuable tool to evaluate potential therapies because they faithfully reproduce the human disease. Several cases of dystrophinopathies have been described in canines, but th
Externí odkaz:
https://doaj.org/article/4db5e8aca9c9431692a8b17b3323ddbf
Autor:
Anne Forand, Antoine Muchir, Nathalie Mougenot, Caroline Sevoz-Couche, Cécile Peccate, Mégane Lemaitre, Charlotte Izabelle, Matthew Wood, Stéphanie Lorain, France Piétri-Rouxel
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 695-708 (2020)
Duchenne muscular dystrophy (DMD) is a devastating neuromuscular disease caused by an absence of the dystrophin protein, which is essential for muscle fiber integrity. Among the developed therapeutic strategies for DMD, the exon-skipping approach cor
Externí odkaz:
https://doaj.org/article/3c70520b46014bc4a96f7817e4afd124
Autor:
Nicolas Vignier, Maria Chatzifrangkeskou, Luca Pinton, Hugo Wioland, Thibaut Marais, Mégane Lemaitre, Caroline Le Dour, Cécile Peccate, Déborah Cardoso, Alain Schmitt, Wei Wu, Maria-Grazia Biferi, Naïra Naouar, Coline Macquart, Maud Beuvin, Valérie Decostre, Gisèle Bonne, Guillaume Romet-Lemonne, Howard J. Worman, Francesco Saverio Tedesco, Antoine Jégou, Antoine Muchir
Publikováno v:
Cell Reports, Vol 36, Iss 8, Pp 109601- (2021)
Summary: Cofilins are important for the regulation of the actin cytoskeleton, sarcomere organization, and force production. The role of cofilin-1, the non-muscle-specific isoform, in muscle function remains unclear. Mutations in LMNA encoding A-type
Externí odkaz:
https://doaj.org/article/c556bebb8808453e8abeba29fd9a8cdb
Autor:
Marine Guilbaud, Christel Gentil, Cécile Peccate, Elena Gargaun, Isabelle Holtzmann, Carole Gruszczynski, Sestina Falcone, Kamel Mamchaoui, Rabah Ben Yaou, France Leturcq, Laurence Jeanson-Leh, France Piétri-Rouxel
Publikováno v:
Skeletal Muscle, Vol 8, Iss 1, Pp 1-13 (2018)
Abstract Background Duchenne (DMD) and Becker (BMD) muscular dystrophies are caused by mutations in the DMD gene coding for dystrophin, a protein being part of a large sarcolemmal protein scaffold that includes the neuronal nitric oxide synthase (nNO
Externí odkaz:
https://doaj.org/article/8dc62b062dec4a498160c96171b1ce67
Autor:
Delphine Trochet, Bernard Prudhon, Maud Beuvin, Cécile Peccate, Stéphanie Lorain, Laura Julien, Sofia Benkhelifa‐Ziyyat, Aymen Rabai, Kamel Mamchaoui, Arnaud Ferry, Jocelyn Laporte, Pascale Guicheney, Stéphane Vassilopoulos, Marc Bitoun
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 2, Pp 239-253 (2017)
Abstract Rapid advances in allele‐specific silencing by RNA interference established a strategy of choice to cure dominant inherited diseases by targeting mutant alleles. We used this strategy for autosomal‐dominant centronuclear myopathy (CNM),
Externí odkaz:
https://doaj.org/article/a4426586b535417d812fa75336f2413c
Publikováno v:
PLoS ONE, Vol 5, Iss 5, p e10894 (2010)
BACKGROUND: Trans-splicing strategies for mRNA repair involve engineered transcripts designed to anneal target mRNAs in order to interfere with their natural splicing, giving rise to mRNA chimeras where endogenous mutated exons have been replaced by
Externí odkaz:
https://doaj.org/article/92c50ee6d9e0479f990b6003d9a86267