Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Nicolas Cubedo"'
Autor:
Lucie Crouzier, Elodie M. Richard, Camille Diez, Morgane Denus, Amandine Peyrel, Hala Alzaeem, Nicolas Cubedo, Thomas Delaunay, Tangui Maurice, Benjamin Delprat
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 295-308 (2022)
Wolfram syndrome (WS) is a rare neurodegenerative disease resulting in deafness, optic atrophy, diabetes, and neurological disorders. Currently, no treatment is available for patients. The mutated gene, WFS1, encodes an endoplasmic reticulum (ER) pro
Externí odkaz:
https://doaj.org/article/8a0f00345eee450bbc8aff2f87918237
Autor:
Christelle Lasbleiz, Amandine Peyrel, Pauline Tarot, Jérôme Sarniguet, Lucie Crouzier, Nicolas Cubedo, Benjamin Delprat, Mireille Rossel, Tangui Maurice, Jean-Charles Liévens
Publikováno v:
Redox Biology, Vol 58, Iss , Pp 102542- (2022)
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting upper and lower motor neurons. As a consequence, ALS patients display a locomotor disorder related to muscle weakness and progressive paralysis. Pathological mechanisms that
Externí odkaz:
https://doaj.org/article/c5b3905fa5074e76a704b2e47268a070
Autor:
Lucie Crouzier, Camille Diez, Elodie M. Richard, Nicolas Cubedo, Clément Barbereau, Mireille Rossel, Thomas Delaunay, Tangui Maurice, Benjamin Delprat
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Retinitis pigmentosa (RP) is one of the most common forms of inherited retinal degeneration with 1/4,000 people being affected. The vision alteration primarily begins with rod photoreceptor degeneration, then the degenerative process continues with c
Externí odkaz:
https://doaj.org/article/0a863bc44c4545b5addacfae15ecf40d
Autor:
Mireille Moussaed, Sylvaine Huc-Brandt, Nicolas Cubedo, Michele Silhol, Samy Murat, Marie-Christine Lebart, Gabor Kovacs, Jean-Michel Verdier, Francoise Trousse, Mireille Rossel, Anne Marcilhac
Publikováno v:
Neurobiology of Disease, Vol 119, Iss , Pp 136-148 (2018)
REG-1α, a secreted protein containing a C-type lectin domain, is expressed in various organs and plays different roles in digestive system cells in physiological and pathological conditions. Like other members of the Reg family, REG-1α is expressed
Externí odkaz:
https://doaj.org/article/04c31204824d4d58b9f8bd14238677ea
Autor:
Lucie Crouzier, Morgane Denus, Elodie M. Richard, Amarande Tavernier, Camille Diez, Nicolas Cubedo, Tangui Maurice, Benjamin Delprat
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 20, p 11049 (2021)
The sigma-1 receptor (S1R) is a highly conserved transmembrane protein highly enriched in mitochondria-associated endoplasmic reticulum (ER) membranes, where it interacts with several partners involved in ER-mitochondria Ca2+ transfer, activation of
Externí odkaz:
https://doaj.org/article/f336a92a798d41ff98a78db35012ec22
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9, p 4626 (2021)
Tauopathies represent a vast family of neurodegenerative diseases, the most well-known of which is Alzheimer’s disease. The symptoms observed in patients include cognitive deficits and locomotor problems and can lead ultimately to dementia. The com
Externí odkaz:
https://doaj.org/article/ea742f734780439d98ab2e8a3406cd99
Autor:
Sylvaine Huc-Brandt, Nelson Hieu, Thibaut Imberdis, Nicolas Cubedo, Michelle Silhol, Patricia L A Leighton, Thomas Domaschke, W Ted Allison, Véronique Perrier, Mireille Rossel
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e113331 (2014)
Prion protein is involved in severe neurodegenerative disorders but its physiological role is still in debate due to an absence of major developmental defects in knockout mice. Previous reports in zebrafish indicate that the two prion genes, PrP1 and
Externí odkaz:
https://doaj.org/article/e2cfb2daf3fc420bbc20ab6098895275
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss
Autor:
Christel Vaché, Nicolas Cubedo, Luke Mansard, Jérôme Sarniguet, David Baux, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Renaud Touraine, Geneviève Lina-Granade, Mireille Cossée, Anne Bergougnoux, Vasiliki Kalatzis, Mireille Rossel, Anne-Françoise Roux
Publikováno v:
European Journal of Human Genetics.
Autor:
Braham Mezghrani, Lamiaa M.A. Ali, Nicolas Cubedo, Mireille Rossel, Peter Hesemann, Jean-Olivier Durand, Nadir Bettache
Publikováno v:
International Journal of Pharmaceutics. :123083
Autor:
Lucie Crouzier, Elodie M Richard, Camille Diez, Hala Alzaeem, Morgane Denus, Nicolas Cubedo, Thomas Delaunay, Emily Glendenning, Sarah Baxendale, Jean-Charles Liévens, Tanya T Whitfield, Tangui Maurice, Benjamin Delprat
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 2022, 31 (16), pp.2711-2727. ⟨10.1093/hmg/ddac065⟩
Human Molecular Genetics, 2022, 31 (16), pp.2711-2727. ⟨10.1093/hmg/ddac065⟩
Wolfram syndrome (WS) is a rare genetic disease characterized by diabetes, optic atrophy and deafness. Patients die at 35 years of age, mainly from respiratory failure or dysphagia. Unfortunately, there is no treatment to block the progression of sym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::264676d4c05fd25524ac45972707366f
https://hal.umontpellier.fr/hal-03757700
https://hal.umontpellier.fr/hal-03757700