5 results on '"Dubus, Elisabeth"'
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2. Impact of dietary fatty acids on autophagy in the retina
- Author
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Bizeau, Jean-Baptiste, Buteau, Bénédicte, Martine, Lucy, Grégoire, Stéphane, Leclère, Laurent, Dubus, Elisabeth, Bron, Alain Marie, Acar, Niyazi, Bringer, Marie-Agnès, and Bringer, Marie-Agnès
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[SDV.AEN] Life Sciences [q-bio]/Food and Nutrition - Published
- 2022
3. P02.10.C Cataract and retinal dystrophy inVps13b(Delta Ex3/Delta Ex3)mice
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Lhussiez, Vincent, Cesar, Quénol, Dubus, Elisabeth, Simonutti, Manuel, Lizé, Eléonore, Nguyen, Sylvie, Geissler, Audrey, Bouchot, André, Picaud, Serge, Nandrot, Emeline F., Acar, Niyazi, Faivre, Laurence, Thauvin, Christel, Duplomb, Laurence, Da Costa, Romain, Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université (SU), Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université Bourgogne Franche-Comté [COMUE] (UBFC), and Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)
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genetic structures ,sense organs ,[SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs ,[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition ,eye diseases - Abstract
International audience; Cohen syndrome (CS) is a rare genetic disorder due to variation in the VPS13B gene. It is characterized by a wide variety of clinical features that includes a typical facial dysmorphism, hypotonia, neutropenia, microcephaly, intellectual disability and severe visual impairments. In their early childhood, CS patients already suffer from myopia and a retinal dystrophy that affects both peripheral and central vision. In addition, long-term outcome studies showed that cataract reaches a high prevalence in adults with CS in their forties. To understand how VPS13B variants lead to these visual impairments and have the possibility to assess therapeutic approaches, we generated the Vps13bΔEx3/ΔEx3 mouse model. Cataract was almost systematic in 2-month-old animals. Eye fundi appeared normal until cataract development, but OCT, ERG and histological data suggest that rod homeostasis may be affected in the few Vps13bΔEx3/ΔEx3 mice without cataract after 5 months of age. Immunostaining of the lens revealed that cataract formation was associated with the appearance of large vacuoles in the cortical area, epithelial-mesenchymal transition and fibrosis. In later stages, cataracts became hypermature, lens capsules ruptured, and sclerotic nuclear parts dissociated. Altogether, our results show that Vps13b has a function in lens homeostasis in mice and that the Vps13bΔEx3/ΔEx3 mouse line is a useful model to study the pathomechanism leading to CS-related cataract.
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- 2020
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4. Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments
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Trouillet, Alix, Dubus, Elisabeth, Degardin, Julie, Estivalet, Amrit, Ivkovic, Ivana, Godefroy, David, García-Ayuso, Diego, Simonutti, Manuel, Sahly, Iman, Sahel, José-Alain, El-Amraoui, Aziz, Petit, Christine, Picaud, Serge, Institut de la Vision, Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Sorbonne Université-Centre National de la Recherche Scientifique ( CNRS ), Universidad de Murcia, Génétique et Physiologie de l'Audition, Collège de France ( CdF ) -Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Sorbonne Université, CIC Quinze-Vingts, Assistance publique - Hôpitaux de Paris (AP-HP)-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Fondation Ophtalmologique Adolphe de Rothschild [Paris], Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Académie des Sciences [Paris], Institut de France, Centre d'investigation clinique Quinze-Vingts [CHNO] (CIC1423 - CIC QUINZE-VINGTS), Institut Hospitalo-Universitaire FOReSIGHT, Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO)-Sorbonne Université (SU), Collège de France (CdF (institution)), This work was supported by EC-FP7 TREATRUSH (HEALTH-F2-2010-242013), by the LabEx LIFESENSES (ANR-10-LABX-65), managed by the French Agence National pour la Recherche (ANR) as part of the first Investissements d’Avenir program (ANR-11-IDEX-0004-02), and within the second Investissements d’Avenir program (ANR-15-RHUS-0001), and by the Faun stiftung and RHU Light4Deaf., ANR-11-IDEX-0004,SUPER,Sorbonne Universités à Paris pour l'Enseignement et la Recherche(2011), ANR-15-RHUS-0001,LIGHT4DEAF,ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER(2015), European Project: 242013,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,TREATRUSH(2010), HAL UPMC, Gestionnaire, Sorbonne Universités à Paris pour l'Enseignement et la Recherche - - SUPER2011 - ANR-11-IDEX-0004 - IDEX - VALID, ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER - - LIGHT4DEAF2015 - ANR-15-RHUS-0001 - RHUS - VALID, Fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment (TreatRetUsher) - TREATRUSH - - EC:FP7:HEALTH2010-02-01 - 2014-01-31 - 242013 - VALID, Institut Hospitalo-Universitaire FOReSIGHT (IHU FOReSIGHT), Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Chaire Génétique et physiologie cellulaire, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Académie des Sciences, and UMRS 1120, Institut National de la Santé et de la Recherche Médicale de Paris
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genetic structures ,Taurine ,lcsh:Medicine ,Apoptosis ,Cell Cycle Proteins ,Nerve Tissue Proteins ,Article ,Antioxidants ,Glial Fibrillary Acidic Protein ,otorhinolaryngologic diseases ,Animals ,Gliosis ,[SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs ,lcsh:Science ,Mice, Inbred BALB C ,Opsins ,[ SDV ] Life Sciences [q-bio] ,Retinal Degeneration ,lcsh:R ,Darkness ,Housing, Animal ,eye diseases ,Diet ,Mice, Inbred C57BL ,Cytoskeletal Proteins ,Phenotype ,[SDV.MHEP.OS] Life Sciences [q-bio]/Human health and pathology/Sensory Organs ,Retinal Cone Photoreceptor Cells ,lcsh:Q ,sense organs ,Carrier Proteins - Abstract
International audience; Usher syndrome type 1 (USH1) is a major cause of inherited deafness and blindness in humans. The eye disorder is often referred to as retinitis pigmentosa, which is characterized by a secondary cone degeneration following the rod loss. The development of treatments to prevent retinal degeneration has been hampered by the lack of clear evidence for retinal degeneration in mutant mice deficient for the Ush1 genes, which instead faithfully mimic the hearing deficit. We show that, under normal housing conditions, Ush1g−/− and Ush1c−/− albino mice have dysfunctional cone photoreceptors whereas pigmented knockout animals have normal photoreceptors. The key involvement of oxidative stress in photoreceptor apoptosis and the ensued retinal gliosis were further confirmed by their prevention when the mutant mice are reared under darkness and/or supplemented with antioxidants. The primary degeneration of cone photoreceptors contrasts with the typical forms of retinitis pigmentosa. Altogether, we propose that oxidative stress probably accounts for the high clinical heterogeneity among USH1 siblings, which also unveils potential targets for blindness prevention.
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- 2018
- Full Text
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5. A Translational Study for Optogenetic Cone Re-Activation in Non-Human Primates
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Dalkara, Deniz, Nouvel-Jaillard, Celine, Desrosiers, Melissa, Brazhnikova, Elena, Caplette, Romain, Dubus, Elisabeth, Douar, Anne, Pruneau, Didier, Duebel, Jens, Roska, Botond, Serge Picaud, and Sahel, Jose A.
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