Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Jean Michel Itier"'
Autor:
Matthew J. Birket, Sophie Raibaud, Miriam Lettieri, Antony D. Adamson, Valerie Letang, Pauline Cervello, Nicolas Redon, Gwenaelle Ret, Sandra Viale, Bing Wang, Bruno Biton, Jean-Claude Guillemot, Vincent Mikol, John P. Leonard, Neil A. Hanley, Cecile Orsini, Jean-Michel Itier
Publikováno v:
Stem Cell Reports, Vol 13, Iss 2, Pp 380-393 (2019)
Summary: Here, we have used patient-derived induced pluripotent stem cell (iPSC) and gene-editing technology to study the cardiac-related molecular and functional consequences of mutations in GLA causing the lysosomal storage disorder Fabry disease (
Externí odkaz:
https://doaj.org/article/c2c19783b4b74745a6875cfbc1a18bb7
Autor:
Gwenaelle Ret, Pauline Cervello, Nicolas Redon, Matthew J. Birket, Miriam Lettieri, Valérie Letang, Bing Wang, Jean-Claude Guillemot, Bruno Biton, John P. Leonard, Sandra Viale, Vincent Mikol, Antony Adamson, Cécile Orsini, Jean-Michel Itier, Sophie Raibaud, Neil A. Hanley
Publikováno v:
Stem Cell Reports, Vol 13, Iss 2, Pp 380-393 (2019)
Birket, M J, Raibaud, S, Lettieri, M, Adamson, A D, Letang, V, Cervello, P, Redon, N, Ret, G, Viale, S, Wang, B, Biton, B, Guillemot, J C, Mikol, V, Leonard, J P, Hanley, N A, Orsini, C & Itier, J M 2019, ' A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology ', Stem Cell Reports, vol. 13, no. 2, pp. 380-393 . https://doi.org/10.1016/j.stemcr.2019.07.004
Stem Cell Reports
Birket, M J, Raibaud, S, Lettieri, M, Adamson, A D, Letang, V, Cervello, P, Redon, N, Ret, G, Viale, S, Wang, B, Biton, B, Guillemot, J C, Mikol, V, Leonard, J P, Hanley, N A, Orsini, C & Itier, J M 2019, ' A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology ', Stem Cell Reports, vol. 13, no. 2, pp. 380-393 . https://doi.org/10.1016/j.stemcr.2019.07.004
Stem Cell Reports
Summary Here, we have used patient-derived induced pluripotent stem cell (iPSC) and gene-editing technology to study the cardiac-related molecular and functional consequences of mutations in GLA causing the lysosomal storage disorder Fabry disease (F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa141f71d1c6b98c801334a8f3f70dd4
http://www.sciencedirect.com/science/article/pii/S2213671119302565
http://www.sciencedirect.com/science/article/pii/S2213671119302565
Autor:
Gwenaelle Ret, Anne Caron, Cécile Orsini, Jean-François Deleuze, Dinesh S. Bangari, John P. Leonard, Lindsay Sweet, Sandra Viale, Jean-Michel Itier, Bernard Bénichou, Françoise Le-Gall
Publikováno v:
Journal of Inherited Metabolic Disease. 37:1013-1022
Fabry disease, a rare X-linked α-galactosidase A deficiency, causes progressive lysosomal accumulation of globotriaosylceramide (GL-3) in a variety of cell types. As the disease progresses, renal failure, left ventricular hypertrophy, and strokes ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7364adab168582e241652e54516f42a5
https://doi.org/10.1007/s10545-014-9724-5
https://doi.org/10.1007/s10545-014-9724-5
Autor:
Valeria Nikolaenko, Martha Stapels, Cécile Orsini, Wendy E. Heywood, Justyna Spiewak, Matthew J. Birket, Kevin Mills, Jean-Michel Itier, Monica Lane, John P. Leonard, Kathy Klinger, Kate Zhang, Mahmud Hossain, Petra Oliva, Ivan Doykov
Publikováno v:
Molecular Genetics and Metabolism. 123:S110
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3e5c00a6548cccbe65fca025d239ea86
https://doi.org/10.1016/j.ymgme.2017.12.292
https://doi.org/10.1016/j.ymgme.2017.12.292
Autor:
Hervé Drobecq, Nicolas Sergeant, Jesus Benavides, Oliver Wirths, Véronique Blanchard, Thierry Canton, Valérie Vingtdeux, Gunter Tremp, Nicolien M. van der Kolk, Laurent Pradier, Evita van de Steeg, Christoph Schmitz, Bruno Bonici, Gwenaelle Ret, André Delacourte, Caty Casas, Jean-Michel Itier, Patrick Benoit, Thomas A. Bayer, Allan Clark
Publikováno v:
The American Journal of Pathology. 165:1289-1300
Alzheimer's disease (AD) is characterized by a substantial degeneration of pyramidal neurons and the appearance of neuritic plaques and neurofibrillary tangles. Here we present a novel transgenic mouse model, APP(SL)PS1KI that closely mimics the deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f0cf1eba593ccf1799db63612eb89ec
https://doi.org/10.1016/s0002-9440(10)63388-3
https://doi.org/10.1016/s0002-9440(10)63388-3
Autor:
Nacer Abbas, Patrice Denefle, Jeremy Pratt, Maria Angeles Mena, Gunter Tremp, Thomas Rooney, Eva Gallego, Marina P. Sánchez, Gwénnäelle Ret, Francisco Araujo, Chantal Joubert, Justo García de Yébenes, Pablo Ibanez, Alexis Brice, Rosa M. Solano, Olga Corti, Charles Cohen-Salmon, Jean Michel Itier, Laurent Pradier, Michel Laville, Magali Periquet, Santiago Canals, Alba Serrano, María José Casarejos, Julia Negroni, Georg Andrees Bohme, Jesus Benavides
Publikováno v:
Human Molecular Genetics. 12:2277-2291
Mutations of the parkin gene are the most frequent cause of early onset autosomal recessive parkinsonism (EO-AR). Here we show that inactivation of the parkin gene in mice results in motor and cognitive deficits, inhibition of amphetamine-induced dop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08af4b7c2aabd7f608f69e18482c3683
https://doi.org/10.1093/hmg/ddg239
https://doi.org/10.1093/hmg/ddg239
Autor:
Pierrette Desbois, Jean-Michel Itier, Philippe Douhet, Jacques Jami, Rajiv L. Joshi, Françoise Dandoy-Dron, Danielle Bucchini
Publikováno v:
Differentiation
Differentiation, Elsevier, 1996, 60 (5), pp.309-316. ⟨10.1046/j.1432-0436.1996.6050309.x⟩
Differentiation, Elsevier, 1996, 60 (5), pp.309-316. ⟨10.1046/j.1432-0436.1996.6050309.x⟩
A mini-human insulin gene and four derivatives mutated at several regions potentially involved in the regulation of gene expression were used to generate transgenic mouse lines. The effect of these mutations on the efficiency of gene expression and c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ae1dfe43e323f736c92a58c0fb486e6
https://doi.org/10.1046/j.1432-0436.1996.6050309.x
https://doi.org/10.1046/j.1432-0436.1996.6050309.x
Autor:
Marie-Christine Multon, François Dautry, Jean-Michel Itier, V Cormier, Gunter Tremp, Gwénaëlle Ret, Marie-Thérèse Bluet-Pajot, Fabien Schweighoffer, Bruno Tocque, Jean-François Léonard
Publikováno v:
Nature. 393(6681)
Mice that have been specially bred to lack a protein known as Grf-1, which is normally found only in the brain, do not grow properly after they are born and remain small all their lives. We have now identified a function of Grf-1 as an important regu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::465817845b626a92352feb1bf3a38aff
https://pubmed.ncbi.nlm.nih.gov/9603515
https://pubmed.ncbi.nlm.nih.gov/9603515
Publikováno v:
Differentiation; research in biological diversity. 58(4)
The tissue specificity conferred by cis-acting regulatory elements of the rat insulin 1 gene was examined in both cultured cells and transgenic mice. The enhancer region (–346/–103) coupled to a ubiquitous promoter activated expression of a repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0924ed327be3d1d4133df4e7983b33d9
https://pubmed.ncbi.nlm.nih.gov/7641979
https://pubmed.ncbi.nlm.nih.gov/7641979