Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene

Autor: Jaume Català-Mora, Olaia Subirà, Jesús Díaz-Cascajosa, J.M. Caminal, M. A. Claveria, Joan Prat, Natalia Coll-Alsina, Noel Padrón-Pérez, Christine Petit, Crystel Bonnet

Publikováno v: Eye
Eye, Nature Publishing Group: Open Access Hybrid Model Option B, 2020, 34 (3), pp.499-506. ⟨10.1038/s41433-019-0536-6⟩
Eye (Lond)
Eye, 2020, 34 (3), pp.499-506. ⟨10.1038/s41433-019-0536-6⟩

International audience; Purpose: To describe retinal alterations detected by swept-source optical coherence tomography (SS-OCT) in paediatric patients with Usher syndrome type 1 (USH1) and to compare these findings to previously published reports.Met

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9db60535f0e30dd8b9ed8009d6c731f4
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219607

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes

Autor: Sylvie Dartevelle, Asadollah Aghaie, Maryline Beurg, E. Sylvester Vizi, Sedigheh Delmaghani, Isabelle Perfettini, Jean Pierre Hardelin, Nicolas Thelen, Alice Emptoz, Guillaume Soubigou, Máté Aller, Didier Dulon, Michel Leibovici, Marc Thiry, Christine Petit, Fabrice Giraudet, Anaïs Meyer, Paul Avan, Tibor Zelles, Saaid Safieddine, Jean Defourny

Publikováno v: Cell
Cell, 2015, 163 (4), pp.894-906. ⟨10.1016/j.cell.2015.10.023⟩
Cell, Elsevier, 2015, 163 (4), pp.894-906. ⟨10.1016/j.cell.2015.10.023⟩

International audience; A deficiency in pejvakin, a protein of unknown function, causes a strikingly heterogeneous form of human deafness. Pejvakin-deficient (Pjvk(-/-)) mice also exhibit variable auditory phenotypes. Correlation between their hearin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2997af323e37b1b3ea545f7e295a0c66
https://hal-pasteur.archives-ouvertes.fr/pasteur-01230439

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

Autor: Richard J. Goodyear, Typhaine Dupont, Mohamed Makrelouf, Paul Avan, Jean-Pierre Hardelin, Muriel Holder, Elise Pepermans, Amel Bahloul, Souad Gherbi, Samia Abdi, Vincent Michel, Christine Petit, Sandrine Marlin, Guy P. Richardson, Akila Zenati, Crystel Bonnet

Publikováno v: EMBO Molecular Medicine
EMBO Molecular Medicine, 2014, 6 (7), pp.984-92. ⟨10.15252/emmm.201403976⟩
EMBO Molecular Medicine, Wiley Open Access, 2014, 6 (7), pp.984-92. ⟨10.15252/emmm.201403976⟩
EMBO molecular medicine
Publons

International audience; Protocadherin-15 (Pcdh15) is a component of the tip-links, the extracellular filaments that gate hair cell mechano-electrical transduction channels in the inner ear. There are three Pcdh15 splice isoforms (CD1, CD2 and CD3), w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326415f857e67d303a83e0bf26fbe810
https://hal-pasteur.archives-ouvertes.fr/pasteur-01237053/document

VEGF-R1 activation increases survival of purified retinal ganglion cells

Autor: Froger, Nicolas, Forster, Valérie, Ivkovic, Ivana, Pain, Dorothée, Brunel, Nadège, Fouquet, Stéphane, Sahel, José-Alain, Picaud, Serge

Publikováno v: luminex useurs meeting
luminex useurs meeting, Oct 2012, Lisbonne, Portugal

International audience; Retinal ganglion cell (RGC) damages are the ultimate and common process characterizing degenerative retinopathies, like glaucoma. In these diseases, no treatment is yet available to directly target RGC degeneration. Previously

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ca052767fd5d7e36b0f8ae64b87fedec
https://hal.sorbonne-universite.fr/hal-02470885/file/posterFROGER2013-SP.pdf

Molecular insights into the interaction between a disordered protein and a folded RNA.

Autor: Mitra R; HHMI, University of Michigan, Ann Arbor, MI 48109.; Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI 48109., Usher ET; Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine, St. Louis, MO 63110.; Center for Biomolecular Condensates, Washington University in St. Louis, St. Louis, MO 63110., Dedeoğlu S; Centre de Résonance Magnétique Nucléaire à Très Hauts Champs, UMR 5082, CNRS, Ecole Normale Supérieure de Lyon, Université Claude Bernard Lyon 1, Université de Lyon, Villeurbanne 69100, France., Crotteau MJ; HHMI, University of Michigan, Ann Arbor, MI 48109.; Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI 48109., Fraser OA; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802., Yennawar NH; The Huck Institutes of the Life Sciences, The Pennsylvania State University, University Park, PA 16802., Gadkari VV; Department of Chemistry, University of Michigan, Ann Arbor, MI 48109., Ruotolo BT; Department of Chemistry, University of Michigan, Ann Arbor, MI 48109., Holehouse AS; Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine, St. Louis, MO 63110.; Center for Biomolecular Condensates, Washington University in St. Louis, St. Louis, MO 63110., Salmon L; Centre de Résonance Magnétique Nucléaire à Très Hauts Champs, UMR 5082, CNRS, Ecole Normale Supérieure de Lyon, Université Claude Bernard Lyon 1, Université de Lyon, Villeurbanne 69100, France., Showalter SA; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802.; Department of Chemistry, The Pennsylvania State University, University Park, PA 16802., Bardwell JCA; HHMI, University of Michigan, Ann Arbor, MI 48109.; Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI 48109.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Dec 03; Vol. 121 (49), pp. e2409139121. Date of Electronic Publication: 2024 Nov 26.