Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Hichem Tasfaout"'
Autor:
Jacob A. Ross, Hichem Tasfaout, Yotam Levy, Jennifer Morgan, Belinda S. Cowling, Jocelyn Laporte, Edmar Zanoteli, Norma B. Romero, Dawn A. Lowe, Heinz Jungbluth, Michael W. Lawlor, David L. Mack, Julien Ochala
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)
Abstract X-linked myotubular myopathy (XLMTM) is a life-threatening skeletal muscle disease caused by mutations in the MTM1 gene. XLMTM fibres display a population of nuclei mispositioned in the centre. In the present study, we aimed to explore wheth
Externí odkaz:
https://doaj.org/article/55ca501951e441d78e15f5e6268bd740
Autor:
Ivana Prokic, Belinda S. Cowling, Candice Kutchukian, Christine Kretz, Hichem Tasfaout, Vincent Gache, Josiane Hergueux, Olivia Wendling, Arnaud Ferry, Anne Toussaint, Christos Gavriilidis, Vasugi Nattarayan, Catherine Koch, Jeanne Lainé, Roy Combe, Laurent Tiret, Vincent Jacquemond, Fanny Pilot-Storck, Jocelyn Laporte
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 11 (2020)
Skeletal muscle development and regeneration are tightly regulated processes. How the intracellular organization of muscle fibers is achieved during these steps is unclear. Here, we focus on the cellular and physiological roles of amphiphysin 2 (BIN1
Externí odkaz:
https://doaj.org/article/2e6f69d140844d328b78b1db7cb69e25
Autor:
Hichem Tasfaout, Suzie Buono, Shuling Guo, Christine Kretz, Nadia Messaddeq, Sheri Booten, Sarah Greenlee, Brett P. Monia, Belinda S. Cowling, Jocelyn Laporte
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
X-linked myotubular myopathy is caused by mutations in the gene coding for myotubularin 1, and is characterized by overexpression of dynamin 2. Here the authors develop antisense oligonucleotides to dynamin 2, and show that systemic injection leads t
Externí odkaz:
https://doaj.org/article/ea5ef61a87bf47839d28720d6a64f759
Publikováno v:
Mol Ther
Gene editing is often touted as a permanent method for correcting mutations, but its long-term benefits in Duchenne muscular dystrophy (DMD) may depend on sufficiently high editing efficiencies to halt muscle degeneration. Here, we explored the persi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::418b4b5a189776174b4dca1a60b402ff
https://doi.org/10.1016/j.ymthe.2020.11.003
https://doi.org/10.1016/j.ymthe.2020.11.003
Autor:
Belinda S. Cowling, Julien Ochala, Jocelyn Laporte, Edmar Zanoteli, David L. Mack, Jennifer E. Morgan, Yotam Levy, Hichem Tasfaout, Heinz Jungbluth, Michael W. Lawlor, Jacob A. Ross, Dawn A. Lowe, Norma B. Romero
Publikováno v:
Acta Neuropathologica Communications
Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2020, 8 (1), pp.167. ⟨10.1186/s40478-020-01048-8⟩
Acta Neuropathologica Communications, 2020, 8 (1), pp.167. ⟨10.1186/s40478-020-01048-8⟩
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)
Ross, J A, Tasfaout, H, Levy, Y, Morgan, J, Cowling, B S, Laporte, J, Zanoteli, E, Romero, N B, Lowe, D A, Jungbluth, H, Lawlor, M W, Mack, D L & Ochala, J 2020, ' rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy ', Acta Neuropathologica Communications, vol. 8, no. 1, 167 . https://doi.org/10.1186/s40478-020-01048-8
Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2020, 8 (1), pp.167. ⟨10.1186/s40478-020-01048-8⟩
Acta Neuropathologica Communications, 2020, 8 (1), pp.167. ⟨10.1186/s40478-020-01048-8⟩
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)
Ross, J A, Tasfaout, H, Levy, Y, Morgan, J, Cowling, B S, Laporte, J, Zanoteli, E, Romero, N B, Lowe, D A, Jungbluth, H, Lawlor, M W, Mack, D L & Ochala, J 2020, ' rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy ', Acta Neuropathologica Communications, vol. 8, no. 1, 167 . https://doi.org/10.1186/s40478-020-01048-8
X-linked myotubular myopathy (XLMTM) is a life-threatening skeletal muscle disease caused by mutations in the MTM1 gene. XLMTM fibres display a population of nuclei mispositioned in the centre. In the present study, we aimed to explore whether positi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54e5bfe44d5d8a73278b2aaeb3dacef
https://doi.org/10.1186/s40478-020-01048-8
https://doi.org/10.1186/s40478-020-01048-8
Autor:
Vincent Gache, Arnaud Ferry, Fanny Pilot-Storck, Olivia Wendling, Vincent Jacquemond, Vasugi Nattarayan, Jeanne Lainé, Jocelyn Laporte, Christine Kretz, Hichem Tasfaout, Roy Combe, Josiane Hergueux, Anne Toussaint, Christos Gavriilidis, Catherine Koch, Belinda S. Cowling, Candice Kutchukian, Ivana Prokic, Laurent Tiret
Publikováno v:
Disease Models & Mechanisms
Disease Models & Mechanisms, Cambridge Company of Biologists, In press, ⟨10.1242/dmm.044354⟩
Disease Models & Mechanisms, In press, ⟨10.1242/dmm.044354⟩
Disease Models & Mechanisms, Vol 13, Iss 11 (2020)
article-version (VoR) Version of Record
Disease Models & Mechanisms, Cambridge Company of Biologists, 2020, pp.dmm.044354. ⟨10.1242/dmm.044354⟩
Disease Models & Mechanisms, Cambridge Company of Biologists, In press, ⟨10.1242/dmm.044354⟩
Disease Models & Mechanisms, In press, ⟨10.1242/dmm.044354⟩
Disease Models & Mechanisms, Vol 13, Iss 11 (2020)
article-version (VoR) Version of Record
Disease Models & Mechanisms, Cambridge Company of Biologists, 2020, pp.dmm.044354. ⟨10.1242/dmm.044354⟩
Skeletal muscle development and regeneration are tightly regulated processes. How the intracellular organization of muscle fibers is achieved during these steps is unclear. Here, we focus on the cellular and physiological roles of amphiphysin 2 (BIN1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3e54486dc722b23b7a97d57177a4858
https://hal.sorbonne-universite.fr/hal-02964521
https://hal.sorbonne-universite.fr/hal-02964521
Autor:
Suzie Buono, Jacob A. Ross, Shuling Guo, Christine Kretz, Julien Ochala, Brett P. Monia, Jocelyn Laporte, Leighla Tayefeh, Hichem Tasfaout, John Matson, Yotam Levy, Marc Bitoun, Pascal Kessler, Belinda S. Cowling
Publikováno v:
Proceedings of the National Academy of Sciences. 115:11066-11071
Centronuclear myopathies (CNM) are a group of severe muscle diseases for which no effective therapy is currently available. We have previously shown that reduction of the large GTPase DNM2 in a mouse model of the X-linked form, due to loss of myotubu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8104160e7b108c8f3de172931b3984ee
https://doi.org/10.1073/pnas.1808170115
https://doi.org/10.1073/pnas.1808170115
Autor:
Belinda S. Cowling, Jocelyn Laporte, Deborah Bitz, Pascale Koebel, Hichem Tasfaout, Nadia Messaddeq, Christine Kretz, Valentina M. Lionello
Publikováno v:
Molecular Therary
Molecular Therary, 2018, 26 (4), pp.1082-1092. ⟨10.1016/j.ymthe.2018.02.008⟩
Molecular Therary, 2018, 26 (4), pp.1082-1092. ⟨10.1016/j.ymthe.2018.02.008⟩
Myotubular myopathy, or X-linked centronuclear myopathy, is a severe muscle disorder representing a significant burden for patients and their families. It is clinically characterized by neonatal and severe muscle weakness and atrophy. Mutations in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::667875491a7bda321914b00c68b5e27b
https://hal.science/hal-03671915
https://hal.science/hal-03671915
Autor:
Aurélien Roux, Ivana Prokic, Belinda S. Cowling, Frédéric Humbert, Anne-Sophie Nicot, Hichem Tasfaout, Christine Kretz, Bruno Rinaldi, Aymen Rabai, Jocelyn Laporte, Sylvie Friant
Publikováno v:
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2017, 127 (12), pp.4477-4487. ⟨10.1172/JCI90542⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 2017, 127 (12), pp.4477-4487. ⟨10.1172/JCI90542⟩
International audience; Regulation of skeletal muscle development and organization is a complex process that is not fully understood. Here, we focused on amphiphysin 2 (BIN1, also known as bridging integrator-1) and dynamin 2 (DNM2), two ubiquitous p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4eb48bb06f3d6c64d87be532f547a6b
https://hal.archives-ouvertes.fr/hal-02378704
https://hal.archives-ouvertes.fr/hal-02378704
Autor:
Rita Barresi, Norma B. Romero, Jacek Majewski, Edoardo Malfatti, Eric Bareke, Yi-Hong Shao, Ana Töpf, Johann Böhm, Karine Choquet, Jocelyn Laporte, Chiara Marini-Bettolo, Nasim Vasli, Tanya Stojkovic, Erin K. O'Ferrall, Volker Straub, Bruno Eymard, Richard Charlton, Gonzalo Blanco, Jason Karamchandani, Hanns Lochmüller, E. Harris, Martine Tétreault, Marie-Josée Dicaire, Bernard Brais, Hichem Tasfaout
Congenital myopathies define a heterogeneous group of neuromuscular diseases with neonatal or childhood hypotonia and muscle weakness. The genetic cause is still unknown in many patients, precluding genetic counselling and better understanding of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff1744b0a9a16551ec380eef5fa75e48
https://eprints.whiterose.ac.uk/113251/1/GBlanco_ZAK_Brain_format_08_06_2016_MTBB.doc
https://eprints.whiterose.ac.uk/113251/1/GBlanco_ZAK_Brain_format_08_06_2016_MTBB.doc