Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Ariane Beauvais"'
Autor:
Lucia Chehade, Marc-Olivier Deguise, Yves De Repentigny, Rebecca Yaworski, Ariane Beauvais, Sabrina Gagnon, Niko Hensel, Rashmi Kothary
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 16 (2022)
Spinal muscular atrophy (SMA) is a monogenic neuromuscular disease caused by low levels of the Survival Motor Neuron (SMN) protein. Motor neuron degeneration is the central hallmark of the disease. However, the SMN protein is ubiquitously expressed a
Externí odkaz:
https://doaj.org/article/7012f123c6254c638026160eccd82345
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 11, Pp 2340-2346 (2019)
Abstract Spinal muscular atrophy (SMA) is a neuromuscular disorder leading to paralysis and death. Recent evidence shows increased susceptibility to dyslipidemia and liver steatosis in patients. Here, we provide evidence that low fat diets nearly dou
Externí odkaz:
https://doaj.org/article/40f4e925643c4529b68c0608deac60a7
Autor:
Marc‐Olivier Deguise, Giovanni Baranello, Chiara Mastella, Ariane Beauvais, Jean Michaud, Alessandro Leone, Ramona De Amicis, Alberto Battezzati, Christopher Dunham, Kathryn Selby, Jodi Warman Chardon, Hugh J. McMillan, Yu‐Ting Huang, Natalie L. Courtney, Alannah J. Mole, Sabrina Kubinski, Peter Claus, Lyndsay M. Murray, Melissa Bowerman, Thomas H. Gillingwater, Simona Bertoli, Simon H. Parson, Rashmi Kothary
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1519-1532 (2019)
Abstract Objective Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder leading to paralysis and subsequent death in young children. Initially considered a motor neuron disease, extra‐neuronal involvement is increasingly recognized.
Externí odkaz:
https://doaj.org/article/fc27db022435433fb87c7d2bb5016994
Autor:
Marc-Olivier Deguise, Chantal Pileggi, Yves De Repentigny, Ariane Beauvais, Alexandra Tierney, Lucia Chehade, Jean Michaud, Maica Llavero-Hurtado, Douglas Lamont, Abdelmadjid Atrih, Thomas M. Wishart, Thomas H. Gillingwater, Bernard L. Schneider, Mary-Ellen Harper, Simon H. Parson, Rashmi Kothary
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 12, Iss 1, Pp 354-377.e3 (2021)
Background & Aims: Nonalcoholic fatty liver disease (NAFLD) is considered a health epidemic with potential devastating effects on the patients and the healthcare systems. Current preclinical models of NAFLD are invariably imperfect and generally take
Externí odkaz:
https://doaj.org/article/17bff1dec6fd49edbbb066b4aa9e5172
Motor transmission defects with sex differences in a new mouse model of mild spinal muscular atrophy
Autor:
Marc-Olivier Deguise, Yves De Repentigny, Alexandra Tierney, Ariane Beauvais, Jean Michaud, Lucia Chehade, Mohamed Thabet, Brittany Paul, Aoife Reilly, Sabrina Gagnon, Jean-Marc Renaud, Rashmi Kothary
Publikováno v:
EBioMedicine, Vol 55, Iss , Pp - (2020)
Background: Mouse models of mild spinal muscular atrophy (SMA) have been extremely challenging to generate. This paucity of model systems has limited our understanding of pathophysiological events in milder forms of the disease and of the effect of S
Externí odkaz:
https://doaj.org/article/1a9351fd01344a8eba12fdc72d52e0ea
Publikováno v:
Neurobiology of Disease, Vol 49, Iss , Pp 57-67 (2013)
Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease caused by mutations and deletions within the survival motor neuron 1 (SMN1) gene. Although other tissues may be involved, motor neurons remain primary pathological targets,
Externí odkaz:
https://doaj.org/article/9ec8a7af8b564d44a4dd9f520466568b
Publikováno v:
PLoS ONE, Vol 9, Iss 7, p e101225 (2014)
Spinal muscular atrophy is an autosomal recessive neuromuscular disease characterized by the progressive loss of alpha motor neurons in the spinal cord. Trichostatin A (TSA) is a histone deacetylase inhibitor with beneficial effects in spinal muscula
Externí odkaz:
https://doaj.org/article/51c5fd59d4bc49da83ee1b2ad7179401
Publikováno v:
PLoS ONE, Vol 6, Iss 5, p e19772 (2011)
The proteolipid protein (Plp) gene promoter is responsible for driving expression of one of the major components of myelin--PLP and its splice variant DM-20. Both products are classically thought to express predominantly in oligodendrocytes. However,
Externí odkaz:
https://doaj.org/article/a251cac494a0407286b85f52f2fcb1ac
Autor:
Suzan M Hammond, Rocky G Gogliotti, Vamshi Rao, Ariane Beauvais, Rashmi Kothary, Christine J DiDonato
Publikováno v:
PLoS ONE, Vol 5, Iss 12, p e15887 (2010)
Spinal muscular atrophy (SMA) is caused by low survival motor neuron (SMN) levels and patients represent a clinical spectrum due primarily to varying copies of the survival motor neuron-2 (SMN2) gene. Patient and animals studies show that disease sev
Externí odkaz:
https://doaj.org/article/27506ad04f5443a4b25cc88b09fbc076
Autor:
Christiano R. R. Alves, Leillani L. Ha, Rebecca Yaworski, Cicera R. Lazzarotto, Kathleen A. Christie, Aoife Reilly, Ariane Beauvais, Roman M. Doll, Demitri de la Cruz, Casey A. Maguire, Kathryn J. Swoboda, Shengdar Q. Tsai, Rashmi Kothary, Benjamin P. Kleinstiver
Spinal muscular atrophy (SMA) is a devastating neuromuscular disease caused by mutations in theSMN1gene. Despite the development of various therapies, outcomes can remain suboptimal in SMA infants and the duration of such therapies are uncertain.SMN2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4eaa7a91ed126da64d6658d42d9a9fde
https://doi.org/10.1101/2023.01.20.524978
https://doi.org/10.1101/2023.01.20.524978