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:

Vestibule

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

Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.

Année:

2019

Auteurs:

Dunbar LA, Patni P, Aguilar C, et al.

Journal:

EMBO Mol Med. 2019;11(9):e10288. doi:10.15252/emmm.201910288

Domaine de recherche:

Audition

Lien:

https://pubmed.ncbi.nlm.nih.gov/31448880/

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

Cone-Enriched Cultures from the Retina of Chicken Embryos to Study Rod to Cone Cellular Interactions

Année:

2021

Auteurs:

Géraldine Millet-Puel, Myriam Pinault, Marie Cordonnier, Valérie Fontaine, José-Alain Sahel , Thierry Léveillard

Journal:

J Vis Exp. 2021 Mar 20;(169). doi: 10.3791/61998.

Domaine de recherche:

Vision

Lien:

https://pubmed.ncbi.nlm.nih.gov/33818576/

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

Année:

2017

Auteurs:

Bahloul A, Pepermans E, Raynal B, Wolff N, Cordier F, England P, Nouaille S, Baron B, El-Amraoui A, Hardelin JP, Durand D, Petit C.

Journal:

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

Domaine de recherche:

Audition

Lien:

https://pubmed.ncbi.nlm.nih.gov/28653419/

Control of Microbial Opsin Expression in Stem Cell Derived Cones for Improved Outcomes in Cell Therapy

Année:

2021

Auteurs:

Marcela Garita-Hernandez, Antoine Chaffiol, Laure Guibbal, Fiona Routet, Hanen Khabou, Luisa Riancho, Lyes Toualbi, Serge Picaud, José-Alain Sahel, Olivier Goureau, Jens Duebel, Deniz Dalkara

Journal:

Front Cell Neurosci. 2021 Mar 18;15:648210. doi:10.3389/fncel.2021.648210. eCollection 2021.

Domaine de recherche:

Vision

Lien:

https://pubmed.ncbi.nlm.nih.gov/33815066/

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

Five-Year Hearing Outcomes inBilateral Simultaneously Cochlear-Implanted Adult Patients.

Année:

2016

Auteurs:

De Seta D, Nguyen Y, Vanier A, Ferrary E, Bebear JP, Godey B, Robier A, Mondain M, Deguine O, Sterkers O, Mosnier I.

Domaine de recherche:

Audition

Lien:

https://pubmed.ncbi.nlm.nih.gov/27653609/

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

Genes Involved in the Development and Physiology of Both the Peripheral and Central Auditory Systems.

Année:

2019

Auteurs:

Michalski N, Petit C.

Journal:

Annu Rev Neurosci. 2019;42:67-86. doi:10.1146/annurev-neuro-070918-050428

Domaine de recherche:

Audition

Lien:

https://pubmed.ncbi.nlm.nih.gov/30699050/

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.

Année:

2016

Auteurs:

Ben-Rebeh I, Grati M, Bonnet C, Bouassida W, Hadjamor I, Ayadi H, Ghorbel A, Petit C, Masmoudi S.

Journal:

Mol Vis. 2016 Jul 19;22:827-35.

Domaine de recherche:

Génétique

Lien:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4950652/

Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials

Année:

2021

Auteurs:

Lilián Galbis-Martínez, Fiona Blanco-Kelly, Gema García-García, Almudena Ávila-Fernández, Teresa Jaijo, Carla Fuster-García, Irene Perea-Romero, Olga Zurita-Muñoz, Belén Jimenez-Rolando, Ester Carreño, Blanca García-Sandoval, José M Millán, Carmen Ayuso

Journal:

Acta Ophthalmol. 2021 Feb 11. doi: 10.1111/aos.14795.

Domaine de recherche:

Génétique

Lien:

https://pubmed.ncbi.nlm.nih.gov/33576163/

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

Higher adaptive optics loop rate enhances axial resolution in nonconfocal ophthalmoscopes.

Année:

2019

Auteurs:

Mecê P, Gofas-Salas E, Petit C, et al.

Journal:

Opt Lett. 2019;44(9):2208-2211. doi:10.1364/OL.44.002208

Domaine de recherche:

Vision

Lien:

https://pubmed.ncbi.nlm.nih.gov/31042185/

Highlighting Directional Reflectance Properties of Retinal Substructures From D-OCT Images.

Année:

2019

Auteurs:

Rossant F, Grieve K, Paques M.

Journal:

IEEE Trans Biomed Eng. 2019;66(11):3105-3118. doi:10.1109/TBME.2019.2900425

Domaine de recherche:

Vision

Lien:

https://pubmed.ncbi.nlm.nih.gov/30794503/

Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next generation sequencing

Année:

2020

Auteurs:

Xiong Zhu, Xiao, Wanli Tian, Yeming Yang, Kuanxiang Sun, Shuzhen, Xianjun Zhu

Journal:

Mol Med Rep. 2020 Jul;22(1):193-200. doi: 10.3892/mmr.2020.11087. Epub 2020 Apr 22.

Domaine de recherche:

Génétique

Lien:

https://pubmed.ncbi.nlm.nih.gov/32319668/

Jointly super-resolved and optically sectioned Bayesian reconstruction method for structured illumination microscopy.

Année:

2019

Auteurs:

Lai-Tim Y, Mugnier LM, Orieux F, Baena-Gallé R, Paques M, Meimon S.

Journal:

Opt Express. 2019;27(23):33251-33267. doi:10.1364/OE.27.033251

Domaine de recherche:

Vision

Lien:

https://pubmed.ncbi.nlm.nih.gov/31878398/

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

Année:

2017

Auteurs:

Emptoz A, Michel V, Lelli A, Akil O, Boutet de Monvel J, Lahlou G, Meyer A, Dupont T, Nouaille S, Ey E, Franca de Barros F, Beraneck M, Dulon D, Hardelin JP, Lustig L, Avan P, Petit C, Safieddine S.

Journal:

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

Domaine de recherche:

Vestibule

Lien:

https://pubmed.ncbi.nlm.nih.gov/28835534/

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigm

Année:

2021

Auteurs:

Leonardo Colombo, Paolo E Maltese, Marco Castori, Said El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, Paolo Ferri, Andi Abeshi, Matteo Bertelli, Luca Rossetti

Journal:

Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13.

Domaine de recherche:

Génétique

Lien:

https://pubmed.ncbi.nlm.nih.gov/31586094/

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/

Near infrared adaptive optics flood illumination retinal angiography. Biomed Opt Express.

Année:

2019

Auteurs:

Gofas-Salas E, Mecê P, Mugnier L, et al

Journal:

Biomed Opt Express. 2019;10(6):2730-2743. Published 2019 May 8. doi:10.1364/BOE.10.002730

Domaine de recherche:

Vision

Lien:

https://pubmed.ncbi.nlm.nih.gov/31259047/

Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa

Année:

2021

Auteurs:

Marco Nassisi, Carlo Lavia, Saddek Mohand-Said, Vasily Smirnov, Aline Antonio, Christel Condroyer, Serge Sancho, Juliette Varin, Alain Gaudric, Christina Zeitz, José-Alain Sahel, Isabelle Audo

Journal:

Sci Rep. 2021 Feb 4;11(1):3180. doi: 10.1038/s41598-021-82757-5.

Domaine de recherche:

Vision

Lien:

https://pubmed.ncbi.nlm.nih.gov/33542393/

Noninvasive gene delivery to foveal cones for vision restoration

Année:

2018

Auteurs:

Khabou H, Garita-Hernandez M, Chaffiol A, Reichman S, Jaillard C, Brazhnikova E, Bertin S, Forster V, Desrosiers M, Winckler C, Goureau O, Picaud S, Duebel J, Sahel JA, Dalkara D.

Journal:

JCI Insight. 2018 Jan 25;3(2). pii: 96029.

Domaine de recherche:

Vision

Lien:

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

Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane.

Année:

2019

Auteurs:

Avan P, Le Gal S, Michel V, et al.

Journal:

Proc Natl Acad Sci U S A. 2019;116(51):25948-25957. doi:10.1073/pnas.1902781116

Domaine de recherche:

Audition

Lien:

https://pubmed.ncbi.nlm.nih.gov/31776257/

Phenotypic characteristics of rod-cone dystrophy associated with myo7a mutations in a large french cohort

Année:

2019

Auteurs:

Khateb S, Mohand-Saïd S, Nassisi M, et al.

Journal:

Retina. 2019;10.1097/IAE.0000000000002636.

Domaine de recherche:

Vision

Lien:

https://pubmed.ncbi.nlm.nih.gov/31479088/

Postural Instability in Subjects With Usher Syndrome.

Année:

2019

Auteurs:

Caldani S, Bucci MP, Tisné M, Audo I, Van Den Abbeele T, Wiener-Vacher S

Journal:

Front Neurol. 2019;10:830. doi:10.3389/fneur.2019.00830

Domaine de recherche:

Vestibule

Lien:

https://pubmed.ncbi.nlm.nih.gov/31440199/

Psychosocial determinants associated with quality of life in people with usher syndrome. A scoping review, Disability and Rehabilitation.

Année:

2019

Auteurs:

Marine Arcous, Olivier Putois, Sophie Dalle-Nazébi, Sylvain Kerbourch, Anaelle Cariou, Ines Ben Aissa, Sandrine Marlin & Rémy Potier

Journal:

2019 DOI: 10.1080/09638288.2019.1571637

Domaine de recherche:

Psychosocial

Lien:

https://pubmed.ncbi.nlm.nih.gov/30974979/

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

Red-shifted channelrhodopsin stimulation restores light responses in blind mice, macaque retina, and human retina.

Année:

2016

Auteurs:

Sengupta A, Chaffiol A, Macé E, Caplette R, Desrosiers M, Lampič M, Forster V, Marre O, Lin JY, Sahel JA, Picaud S, Dalkara D, Duebel J.

Journal:

EMBO Mol Med. 2016 Sep 27.

Domaine de recherche:

Vision

Lien:

http://onlinelibrary.wiley.com/doi/10.15252/emmm.201505699/full

Restoration of visual function by transplantation of optogenetically engineered photoreceptors.

Année:

2019

Auteurs:

Garita-Hernandez M, Lampič M, Chaffiol A, et al.

Journal:

Nat Commun. 2019;10(1):4524. Published 2019 Oct 4. doi:10.1038/s41467-019-12330-2

Domaine de recherche:

Vision

Lien:

https://pubmed.ncbi.nlm.nih.gov/31586094/

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

Subjective visual vertical in patients with Usher syndrome

Année:

2020

Auteurs:

Moetez Baghdadi, Simona Caldani, Audrey Maudoux, Isabelle Audo, Maria Pia Bucci, Sylvette R Wiener-Vacher

Journal:

J Vestib Res . 2020;30(4):275-282. doi: 10.3233/VES-200711.

Domaine de recherche:

Vestibule

Lien:

https://pubmed.ncbi.nlm.nih.gov/32925128/

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.

Compétence:

Usher

Année:

2021

Auteurs:

Marcela Garita-Hernandez , Antoine Chaffiol, Laure Guibbal, Fiona Routet, Hanen Khabou, Luisa Riancho, Lyes Toualbi, Serge Picaud, José-Alain Sahel, Olivier Goureau, Jens Duebel, Deniz Dalkara

Journal:

Front Cell Neurosci. 2021 Mar 18;15:648210. doi: 10.3389/fncel.2021.648210. eCollection 2021.

Domaine de recherche:

Vision

Lien:

https://pubmed.ncbi.nlm.nih.gov/33815066/

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:

Vision

Lien:

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