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ANR project: Code decision (reference) : ANR-15-RHUS-0001
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Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane

Paul Avan , Sébastien Le Gal , Vincent Michel , Typhaine Dupont , Jean-Pierre Hardelin , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (51), pp.25948-25957. ⟨10.1073/pnas.1902781116⟩
Journal articles pasteur-02860028v1

Mapping the Fine-Scale Organization and Plasticity of the Brain Vasculature

Christoph Kirst , Sophie Skriabine , Alba Vieites-Prado , Thomas Topilko , Paul Bertin , et al.
Cell, 2020, 180 (4), pp.780-795.e25. ⟨10.1016/j.cell.2020.01.028⟩
Journal articles pasteur-02874557v1
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Spontaneous Mouse Behavior in Presence of Dissonance and Acoustic Roughness

Olivier Postal , Typhaine Dupont , Warren Bakay , Noémi Dominique , Christine Petit , et al.
Frontiers in Behavioral Neuroscience, 2020, 14, pp.588834. ⟨10.3389/fnbeh.2020.588834⟩
Journal articles hal-02989780v1
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Partial-Field Illumination Ophthalmoscope: improving the contrast of a camera-based retinal imager

Léa Krafft , Elena Gofas-Salas , Yann Lai-Tim , Michel Paques , Laurent Mugnier , et al.
Applied optics, 2021, 60 (31), pp.9951-9956
Journal articles hal-03436973v2
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Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

Vasily M Smirnov , Marco Nassisi , Saddek Mohand-Saïd , Crystel Bonnet , Anne Aubois , et al.
Investigative Ophthalmology & Visual Science, 2022, 63 (4), pp.25. ⟨10.1167/iovs.63.4.25⟩
Journal articles hal-03954493v1
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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Crystel Bonnet , Zied Riahi , Sandra Chantot-Bastaraud , Luce Smagghe , Mélanie Letexier , et al.
European Journal of Human Genetics, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩
Journal articles pasteur-03215026v1
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Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art

Aida Nourbakhsh , Brett M. Colbert , Eric Nisenbaum , Aziz El-Amraoui , Derek M. Dykxhoorn , et al.
Journal of the Association for Research in Otolaryngology, 2021, 22 (2), pp.95-105. ⟨10.1007/s10162-020-00781-0⟩
Journal articles hal-03125733v1
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Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians.

Matteo Cortese , Samantha Papal , Francisco Pisciottano , Ana Belén Elgoyhen , Jean-Pierre Hardelin , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (8), pp.2054-2059. ⟨10.1073/pnas.1618778114⟩
Journal articles pasteur-01486996v1
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Contributions of Age-Related and Audibility-Related Deficits to Aided Consonant Identification in Presbycusis: A Causal-Inference Analysis

Léo Varnet , Agnès C Léger , Sophie Boucher , Crystel Bonnet , Christine Petit , et al.
Frontiers in Aging Neuroscience, 2021, 13, pp.640522. ⟨10.3389/fnagi.2021.640522⟩
Journal articles hal-03154679v1
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Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

Lucy A Dunbar , Pranav Patni , Carlos Aguilar , Philomena Mburu , Laura Corns , et al.
EMBO Molecular Medicine, 2019, 11 (9), pp.e10288. ⟨10.15252/emmm.201910288⟩
Journal articles pasteur-03261798v1
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10 ans de recherche sur les maladies rares

Thierry Damerval
2023
Other publications hal-04183880v1
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Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G

Alice Emptoz , Vincent Michel , Andrea Lelli , Omar Akil , Jacques Boutet de Monvel , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (36), pp.9695 - 9700. ⟨10.1073/pnas.1708894114⟩
Journal articles hal-01661148v1
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Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges

Sedigheh Delmaghani , Aziz El-Amraoui
Journal of Clinical Medicine, 2020, 9 (7), pp.2309. ⟨10.3390/jcm9072309⟩
Journal articles pasteur-03261812v1
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A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Barbara Vona , Neda Mazaheri , Sheng-Jia Lin , Lucy A Dunbar , Reza Maroofian , et al.
Human Genetics, 2021, 140 (6), pp.915 - 931. ⟨10.1007/s00439-020-02254-z⟩
Journal articles pasteur-03261818v1
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Central auditory deficits associated with genetic forms of peripheral deafness

Nicolas Michalski , Christine Petit
Human Genetics, 2022, 141 (3-4), pp.335-345. ⟨10.1007/s00439-021-02339-3⟩
Journal articles pasteur-03694328v1
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Disease mechanisms and gene therapy for Usher syndrome

Gwenaelle G S Géléoc , Aziz El-Amraoui
Hearing Research, 2020, 394, pp.107932. ⟨10.1016/j.heares.2020.107932⟩
Journal articles pasteur-03261813v1
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The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification

Sedigheh Delmaghani , Aziz El-Amraoui
Human Genetics, 2022, 141 (3-4), pp.709-735. ⟨10.1007/s00439-022-02448-7⟩
Journal articles pasteur-03916414v1
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Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cells

Vincent Michel , Elise Pepermans , Jacques Boutet de Monvel , Patrick England , Sylvie Nouaille , et al.
Scientific Reports, 2020, 10 (1), pp.16430. ⟨10.1038/s41598-020-73158-1⟩
Journal articles hal-02988089v1
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Genes Involved in the Development and Physiology of Both the Peripheral and Central Auditory Systems

Nicolas Michalski , Christine Petit
Annual Review of Neuroscience, 2019, 42, pp.67-86. ⟨10.1146/annurev-neuro-070918-050428⟩
Journal articles pasteur-02874563v1
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Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery

Amel Bahloul , Elise Pepermans , Bertrand Raynal , Nicolas Wolff , Florence Cordier , et al.
FEBS Letters, 2017, 591 (15), pp.2299 - 2310. ⟨10.1002/1873-3468.12729⟩
Journal articles pasteur-01858477v1
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Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome

Didier Dulon , Samantha Papal , Pranav Patni , Matteo Cortese , Philippe F.y Vincent , et al.
Journal of Clinical Investigation, 2018, 128 (8), pp.3382 - 3401. ⟨10.1172/JCI94351⟩
Journal articles pasteur-01858480v1
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Auditory cortex interneuron development requires cadherins operating hair-cell mechanoelectrical transduction.

Baptiste Libé-Philippot , Michel Vittot , Jacques Boutet de Monvel , Sébastien Le Gal , Typhaine Dupont , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (30), pp.7765-7774. ⟨10.1073/pnas.1703408114⟩
Journal articles pasteur-01568747v1
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Progress in Gene Editing Tools and Their Potential for Correcting Mutations Underlying Hearing and Vision Loss

Catherine Botto , Deniz Dalkara , Aziz El-Amraoui
Frontiers in Genome Editing, 2021, 3, pp.737632. ⟨10.3389/fgeed.2021.737632⟩
Journal articles hal-03448816v1
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Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions

Audrey Maudoux , Sandrine Vitry , Aziz El-Amraoui
Frontiers in Neurology, 2022, 13, pp.816534. ⟨10.3389/fneur.2022.816534⟩
Journal articles pasteur-03689055v1
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Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments

Alix Trouillet , Elisabeth Dubus , Julie Degardin , Amrit Estivalet , Ivana Ivkovic , et al.
Scientific Reports, 2018, 8 (1), pp.1968. ⟨10.1038/s41598-018-20171-0⟩
Journal articles hal-01708801v1

Cadherins in the Auditory Sensory Organ

Aziz El-Amraoui , Christine Petit
Suzuki, S; Hirano, S. The Cadherin Superfamily, Springer, pp.341 - 361, 2016, 978-4-431-56033-3. ⟨10.1007/978-4-431-56033-3_13⟩
Book sections pasteur-03922347v1

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

Sophie Boucher , Fabienne Wong Jun Tai , Sedigheh Delmaghani , Andrea Lelli , Amrit Singh-Estivalet , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩
Journal articles pasteur-03215054v1