Zobrazeno 1 - 10
of 453
pro vyhledávání: '"Muchir A"'
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:
R. J. A. Veltrop, M. M. Kukk, K. Topouzidou, L. Didden, A. Muchir, F. G. van Steenbeek, L. J. Schurgers, M. Harakalova
Publikováno v:
Cell Communication and Signaling, Vol 22, Iss 1, Pp 1-17 (2024)
Abstract Severe cardiac remodeling leading to heart failure in individuals harboring pathogenic LMNA variants, known as cardiolaminopathy, poses a significant clinical challenge. Currently, there is no effective treatment for lamin-related diseases.
Externí odkaz:
https://doaj.org/article/66a5209a500f4807a9ca14b3aad5386b
Publikováno v:
Skeletal Muscle, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in DMD gene and loss of the protein dystrophin, which ultimately leads to myofiber membrane fragility and necrosis, with eventual muscle atrophy and contractures. A
Externí odkaz:
https://doaj.org/article/12a9f740a33e40718a3a37a61784efa2
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Rose, Nicolas, Estrada Chavez, Berenice, Sonam, Surabhi, Nguyen, Thao, Grenci, Gianluca, Bigot, Anne, Muchir, Antoine, Ladoux, Benoît, Cadot, Bruno, Le Grand, Fabien, Trichet, Léa
Publikováno v:
In Biomaterials February 2023 293
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
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Cardiomyopathy is a myocardial disorder, in which the heart muscle is structurally and functionally abnormal, often leading to heart failure. Dilated cardiomyopathy is characterized by a compromised left ventricular function and contributes significa
Externí odkaz:
https://doaj.org/article/b7ff68354deb4ed4af99500f91c6b65f
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hϋlya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean-François Deleuze, Agnes Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Mandibuloacral dysplasias (MADs) are rare progeroid syndromes characterized by nuclear morphological and functional abnormalities. Here the authors report that loss of mitochondrial membrane protein MTX2 causes a progeroid MAD sharing clinical featur
Externí odkaz:
https://doaj.org/article/21379d0d1eab48b298abdd7e9cc58e7d
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