Les résultats du projet - Usher info

A New Promoter Allows Optogenetic Vision Restoration with Enhanced Sensitivity in Macaque Retina

Année:

2017

Auteurs:

Antoine Chaffiol, Romain Caplette, Céline Jaillard, Elena Brazhnikova, Mélissa Desrosiers, Elisabeth Dubus, Laëtitia Duhamel, Emilie Macé, Olivier Marre, Patrick Benoit, Philippe Hantraye, Alexis-Pierre Bemelmans, Ernst Bamberg, Jens Duebel, José-Alain Sahel, Serge Picaud, and Deniz Dalkara

Journal:

Mol Ther. 2017 Nov 1; 25(11): 2546–2560.

Domaine de recherche:

Vision

Lien:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675708/

AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy

Année:

2016

Auteurs:

Astra Dinculescu , Rachel M. Stupay , Wen-Tao Deng, Frank M. Dyka, Seok-Hong Min, Sanford L. Boye, Vince A. Chiodo, Carolina E. Abrahan, Ping Zhu, Qiuhong Li, Enrica Strettoi, Elena Novelli, Kerstin Nagel-Wolfrum, [ ... ], William W. Hauswirth

Journal:

PLoS ONE 11(2): e0148874

Domaine de recherche:

Génétique

Lien:

http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0148874

Adaptive Gaze Strategies for Locomotion with Constricted Visual Field

Année:

2017

Auteurs:

Colas N. Authié, Alain Berthoz, José-Alain Sahel, Avinoam B. Safran

Journal:

Front Hum Neurosci. 2017; 11: 387. Published online 2017 Jul 27

Domaine de recherche:

Vision

Lien:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529417/pdf/fnhum-11-00387.pdf

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Année:

2016

Auteurs:

Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač

Journal:

Eur J Hum Genet. 2016 Jul 27.

Domaine de recherche:

Génétique

Lien:

http://www.nature.com/ejhg/journal/vaop/ncurrent/abs/ejhg201699a.html

Auditory cortex interneuron development requires cadherins operating hair-cell mechanoelectrical transduction

Auteurs:

Baptiste Libé-Philippot, Vincent Michel, Jacques Boutet de Monvel, Sébastien Le Gal, Typhaine Dupont, Paul Avan, Christine Métin, Nicolas Michalski, Christine Petit

Journal:

Proc Natl Acad Sci U S A. 2017 Jul 25;114(30):7765-7774

Domaine de recherche:

Audition

Lien:

http://www.pnas.org/content/114/30/7765.long

CEP78 is mutated in a distinct type of Usher syndrome

Année:

2016

Auteurs:

Qing Fu, Mingchu Xu, Xue Chen, Xunlun Sheng, Zhisheng Yuan, Yani Liu, Huajin Li, Zixi Sun, Huiping Li, Lizhu Yang, Keqing Wang, Fangxia Zhang, Yumei Li, Chen Zhao, Ruifang Sui, Rui Chen

Journal:

J Med Genet jmedgenet-2016-104166

Domaine de recherche:

Génétique

Lien:

http://jmg.bmj.com/content/early/2016/09/14/jmedgenet-2016-104166.abstract

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.

Année:

2017

Auteurs:

Vincent Michel, Kevin T Booth, Pranav Patni, Matteo Cortese, Hela Azaiez, Amel Bahloul, Kimia Kahrizi, Ménélik Labbé, Alice Emptoz, Andrea Lelli, Julie Dégardin, Typhaine Dupont, Asadollah Aghaie, Danuta Oficjalska‐Pham, Serge Picaud, Hossein Najmabadi, Richard J Smith, Michael R Bowl, Steven DM Brown, Paul Avan, Christine Petit, Aziz El‐Amraoui

Journal:

EMBO Mol Med. 2017 Dec;9(12):1711-1731.

Domaine de recherche:

Audition

Lien:

http://embomolmed.embopress.org/content/9/12/1711.long

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome

Année:

2018

Auteurs:

Didier Dulon, Samantha Papal, Pranav Patni, Matteo Cortese, Philippe F.Y. Vincent, Margot Tertrais, Alice Emptoz, Abdelaziz Tlili, Yohan Bouleau, Vincent Michel, Sedigheh Delmaghani, Alain Aghaie, Elise Pepermans, Olinda Alegria-Prevot, Omar Akil, Lawrence Lustig, Paul Avan, Saaid Safieddine,Christine Petit, and Aziz El-Amraoui

Journal:

J Clin Invest. 2018 Aug 1;128(8):3382-3401. doi: 10.1172/JCI94351. Epub 2018 Jul 9.

Domaine de recherche:

Audition

Lien:

https://www.jci.org/articles/view/94351

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.

Année:

2016

Auteurs:

Lelli A, Michel V, Boutet de Monvel J, Cortese M, Bosch-Grau M, Aghaie A, Perfettini I, Dupont T, Avan P, El-Amraoui A, Petit C.

Journal:

J Cell Biol. 2016 Jan 18;212(2):231-44.

Domaine de recherche:

Génétique

Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments

Année:

2018

Auteurs:

Alix Trouillet, Elisabeth Dubus, Julie Dégardin, Amrit Estivalet, Ivana Ivkovic, David Godefroy, Diego García-Ayuso, Manuel Simonutti, Iman Sahly, José A. Sahel, Aziz El-Amraoui, Christine Petit, Serge Picaud

Journal:

Scientific Reportsvolume 8, Article number: 1968 (2018)

Domaine de recherche:

Vision

Expertise médicale:

Vision

Lien:

https://www.nature.com/articles/s41598-018-20171-0

Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery

Auteurs:

Amel Bahloul, Elise Pepermans, Bertrand Raynal, Nicolas Wolff, Florence Cordier, Patrick England, Sylvie Nouaille, Bruno Baron, Aziz El‐Amraoui, Jean‐Pierre Hardelin, Dominique Durand, Christine Petit

Journal:

FEBS Lett. 2017 Aug;591(15):2299-2310

Domaine de recherche:

Génétique

Lien:

https://febs.onlinelibrary.wiley.com/doi/abs/10.1002/1873-3468.12729

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.

Année:

2016

Auteurs:

Abdi S, Bahloul A, Behlouli A, Hardelin JP, Makrelouf M, Boudjelida K, Louha M, Cheknene A, Belouni R, Rous Y, Merad Z, Selmane D, Hasbelaoui M, Bonnet C, Zenati A, Petit C.

Journal:

PLoS One. 2016 Sep 1;11(9):e0161893.

Domaine de recherche:

Génétique

Lien:

http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161893

Dosage thresholds and influence of transgene cassette in AAV-related toxicity

Année:

2018

Auteurs:

Khabou H, Cordeau C, Pacot L, Fisson S, Dalkara D

Journal:

Hum Gene Ther. 2018 Aug 22. doi: 10.1089/hum.2018.144. [Epub ahead of print]

Domaine de recherche:

Vision

Lien:

https://www.ncbi.nlm.nih.gov/pubmed/30132368

Fixational eye movement: a negligible source of dynamic aberration

Année:

2018

Auteurs:

Pedro Mecê, Jessica Jarosz, Jean-Marc Conan, Cyril Petit, Kate Grieve, Michel Paques, and Serge Meimon

Journal:

Biomed Opt Express. 2018 Jan 22;9(2):717-727. doi: 10.1364/BOE.9.000717. eCollection 2018 Feb 1.

Domaine de recherche:

Vision

Lien:

https://www.ncbi.nlm.nih.gov/pubmed/?term=Fixational+eye+movement%3A+a+negligible+source+of+dynamic+aberration

High loop rate adaptive optics flood illumination ophthalmoscope with structured illumination capability.

Année:

2018

Auteurs:

Gofas-Salas E, Mecê P, Petit C, Jarosz J, Mugnier LM, Montmerle Bonnefois A, Grieve K, Sahel J, Paques M, Meimon S.

Journal:

Appl Opt. 2018 Jul 10;57(20):5635-5642. doi: 10.1364/AO.57.005635.

Domaine de recherche:

Vision

Lien:

https://www.ncbi.nlm.nih.gov/pubmed/30118075

Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G

Année:

2017

Auteurs:

Alice Emptoz, Vincent Michel, Andrea Lelli, Omar Akil, Jacques Boutet de Monvel, Ghizlene Lahlou, Anaïs Meyer, Typhaine Dupont, Sylvie Nouaille, Elody Ey, Filipa Franca de Barros, Mathieu Beraneck, Didier Dulon, Jean-Pierre Hardelin, Lawrence Lustig, Paul Avan, Christine Petit, Saaid Safieddine

Journal:

Proc Natl Acad Sci U S A. 2017 Sep 5;114(36):9695-9700

Domaine de recherche:

Vestibule

Lien:

http://www.pnas.org/content/114/36/9695.long

Monitoring the evolution of boron doped porous diamond electrode on flexible retinal implant by OCT and in vivo impedance spectroscopy.

Année:

2016

Auteurs:

Hébert C, Cottance M, Degardin J, Scorsone E, Rousseau L, Lissorgues G, Bergonzo P, Picaud S.

Journal:

Mater Sci Eng C Mater Biol Appl. 2016 Dec 1;69:77-84.

Domaine de recherche:

Vision

Lien:

http://www.sciencedirect.com/science/article/pii/S0928493116306014

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

Année:

2016

Auteurs:

Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C.

Journal:

Am J Hum Genet. 2016 Jun 2;98(6):1266-70

Domaine de recherche:

Génétique

Lien:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738386/

Noninvasive gene delivery to foveal cones for vision restoration

Auteurs:

Hanen Khabou, Marcela Garita-Hernandez, Antoine Chaffiol, Sacha Reichman, Céline Jaillard, Elena Brazhnikova, Stéphane Bertin, Valérie Forster, Mélissa Desrosiers, Céline Winckler, Olivier Goureau, Serge Picaud, Jens Duebel, José-Alain Sahel, Deniz Dalkara

Domaine de recherche:

Vision

Lien:

https://www.ncbi.nlm.nih.gov/pubmed/?term=Khabou+noninvasive

Quantitative and Topographical Analysis of the Losses of Cone Photoreceptors and Retinal Ganglion Cells Under Taurine Depletion.

Année:

2016

Auteurs:

Hadj-Saïd W, Froger N, Ivkovic I, Jiménez-López M, Dubus É, Dégardin-Chicaud J, Simonutti M, Quénol C, Neveux N, Villegas-Pérez MP, Agudo-Barriuso M, Vidal-Sanz M, Sahel JA, Picaud S, García-Ayuso D.

Journal:

Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4692-703.

Domaine de recherche:

Vision

Lien:

https://www.ncbi.nlm.nih.gov/pubmed/27607415

Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians

Année:

2017

Auteurs:

Matteo Cortese, Samantha Papal, Francisco Pisciottano, Ana Belén Elgoyhen, Jean-Pierre Hardelin, Christine Petit, Lucia Florencia Franchini, Aziz El-Amraoui

Journal:

Proc Natl Acad Sci U S A. 2017 Feb 21;114(8):2054-2059

Lien:

http://www.pnas.org/content/114/8/2054.long

The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals

Année:

2016

Auteurs:

Tongchao Li Nikolaos Giagtzoglou Daniel F Eberl Sonal Nagarkar Jaiswal Tiantian Cai Dorothea Godt Andrew K Groves Hugo J Bellen

Journal:

eLife 2016;5:e15258

Domaine de recherche:

Génétique

Lien:

https://elifesciences.org/content/5/e15258/article-info

Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment

Année:

2017

Auteurs:

Cataldo Schietroma, Karine Parain, Amrit Estivalet, Asadollah Aghaie, Jacques Boutet de Monvel, Serge Picaud, José-Alain Sahel, Muriel Perron, Aziz El-Amraoui, Christine Petit

Journal:

J Cell Biol. 2017 Jun 5;216(6):1849-1864

Domaine de recherche:

Génétique

Lien:

http://jcb.rupress.org/content/216/6/1849.long