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Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells

Maryline Beurg , Nicolas Michalski , Saaid Safieddine , Yohan Bouleau , Ralf Schneggenburger , et al.
Journal of Neuroscience, 2010, 30 (40), pp.13281-90. ⟨10.1523/JNEUROSCI.2528-10.2010⟩
Article dans une revue pasteur-01472847v1
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Thérapie génique des surdités humaines

Anaïs Meyer , Christine Petit , Saaid Safieddine
Médecine/Sciences, 2013, 29 (10), pp.883 - 889. ⟨10.1051/medsci/20132910016⟩
Article dans une revue hal-04159599v1

The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models

Aziz El-Amraoui , Christine Petit
Comptes Rendus. Biologies, 2014, 337 (3), pp.167 - 177. ⟨10.1016/j.crvi.2013.12.004⟩
Article dans une revue pasteur-03922364v1

Usher Syndrome and Color Vision

Anne Kurtenbach , Gesa Hahn , Christoph Kernstock , Stephanie Hipp , Ditta Zobor , et al.
Current Eye Research, 2018, 43 (10), pp.1295-1301. ⟨10.1080/02713683.2018.1501804⟩
Article dans une revue pasteur-03219639v1

Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families

Imane Aitraise , Ghita Amalou , Amina Bakhchane , Amale Bousfiha , Houria Abdelghaffar , et al.
Biochemical Genetics, In press, ⟨10.1007/s10528-023-10515-5⟩
Article dans une revue pasteur-04235312v1

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

Crystel Bonnet , M. Louha , N. Loundon , N. Michalski , E. Verpy , et al.
Gene, 2013, 527 (2), pp.537-540. ⟨10.1016/j.gene.2013.06.044⟩
Article dans une revue istex pasteur-04309222v1

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

Sandrine Marlin , Delphine Feldmann , Yann Nguyen , Isabelle Rouillon , Natalie Loundon , et al.
Biochemical and Biophysical Research Communications, 2010, 394 (3), pp.737-742. ⟨10.1016/j.bbrc.2010.03.062⟩
Article dans une revue istex pasteur-04309241v1

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

Olaia Subirà , Jaume Català-Mora , Jesús Díaz-Cascajosa , Noel Padrón-Pérez , M. Claveria , et al.
Eye, 2020, 34 (3), pp.499-506. ⟨10.1038/s41433-019-0536-6⟩
Article dans une revue pasteur-03219607v1
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Otologie et audiologie, un parcours de soin en pleine mutation à la lumière des avancées scientifiques [Éditorial]

Paul Avan , Christine Petit
Médecine/Sciences, 2022, 38 (8-9), pp.621-622. ⟨10.1051/medsci/2022110⟩
Article dans une revue pasteur-03982537v1
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Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome

Samia Abdi , Mohamed Makrelouf , Issa Nazim Rous , Kheireddine Ounnoughi , Akila Zenati , et al.
Gene Reports, 2024, 36, pp.101954. ⟨10.1016/j.genrep.2024.101954⟩
Article dans une revue pasteur-04691606v1
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Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

Ana Fakin , Crystel Bonnet , Anne Kurtenbach , Saddek Mohand-Said , Ditta Zobor , et al.
International Journal of Molecular Sciences, 2021, 22 (19), pp.10352. ⟨10.3390/ijms221910352⟩
Article dans une revue hal-03417248v1
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Viral transfer of mini-otoferlins partially restores the fast component of exocytosis and uncovers ultrafast endocytosis in auditory hair cells of otoferlin knock-out mice

Margot Tertrais , Yohan Bouleau , Alice Emptoz , Séverin Belleudy , R Bryan Sutton , et al.
Journal of Neuroscience, 2019, 39 (18), pp.3394-3411. ⟨10.1523/JNEUROSCI.1550-18.2018⟩
Article dans une revue hal-04159459v1
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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⟩
Article dans une revue hal-01661148v1
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A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss

Ju Sun Song , Amel Bahloul , Christine Petit , Sang Jin Kim , Il Joon Moon , et al.
Annals of Laboratory Medicine, 2020, 40 (3), pp.224-231. ⟨10.3343/alm.2020.40.3.224⟩
Article dans une revue hal-02433812v1
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A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

Amale Bousfiha , Amina Bakhchane , Hicham Charoute , Zied Riahi , Khalid Snoussi , et al.
Human Genome Variation, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩
Article dans une revue pasteur-03219646v1

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study

Katarina Stingl , Anne Kurtenbach , Gesa Hahn , Christoph Kernstock , Stephanie Hipp , et al.
Documenta Ophthalmologica, 2019, 139 (2), pp.151-160. ⟨10.1007/s10633-019-09704-8⟩
Article dans une revue pasteur-03219625v1
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Exocytotic Machineries of Vestibular Type I and Cochlear Ribbon Synapses Display Similar Intrinsic Otoferlin-Dependent Ca2+ Sensitivity But a Different Coupling to Ca2+ Channels

P. Vincent , Y. Bouleau , S. Safieddine , Christine Petit , D. Dulon
Journal of Neuroscience, 2014, 34 (33), pp.10853-10869. ⟨10.1523/JNEUROSCI.0947-14.2014⟩
Article dans une revue hal-04160516v1
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Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model

Ghizlene Lahlou , Charlotte Calvet , François Simon , Vincent Michel , Lauranne Alciato , et al.
JCI Insight, 2024, 9 (3), pp.e169504. ⟨10.1172/jci.insight.169504⟩
Article dans une revue hal-04471800v1

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route

Samantha Papal , Matteo Cortese , Kirian Legendre , Nasrin Sorusch , Joseph Dragavon , et al.
Human Molecular Genetics, 2013, 22 (18), pp.3773 - 3788. ⟨10.1093/hmg/ddt228⟩
Article dans une revue pasteur-03922387v1
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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⟩
Article dans une revue 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⟩
Article dans une revue pasteur-03261798v1
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Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation

Laura F Corns , Stuart L Johnson , Terri Roberts , Kishani M Ranatunga , Aenea Hendry , et al.
Nature Communications, 2018, 9 (1), pp.4015. ⟨10.1038/s41467-018-06307-w⟩
Article dans une revue hal-04159530v1
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Otoferlin Is Critical for a Highly Sensitive and Linear Calcium-Dependent Exocytosis at Vestibular Hair Cell Ribbon Synapses

Didier Dulon , Saaid Safieddine , Sherri M Jones , Christine Petit
Journal of Neuroscience, 2009, 29 (34), pp.10474-10487. ⟨10.1523/JNEUROSCI.1009-09.2009⟩
Article dans une revue hal-04159603v1
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Different Ca V 1.3 Channel Isoforms Control Distinct Components of the Synaptic Vesicle Cycle in Auditory Inner Hair Cells

Philippe F.Y. Vincent , Yohan Bouleau , Gilles Charpentier , Alice Emptoz , Saaid Safieddine , et al.
Journal of Neuroscience, 2017, 37 (11), pp.2960-2975. ⟨10.1523/JNEUROSCI.2374-16.2017⟩
Article dans une revue hal-04159590v1

Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family

Soukaina Elrharchi , Zied Riahi , Sara Salime , Hicham Charoute , Lamiae Elkhattabi , et al.
Human Heredity, 2021, 85 (1), pp.35-39. ⟨10.1159/000512712⟩
Article dans une revue pasteur-03219602v1

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⟩
Article dans une revue pasteur-03215054v1

SpiCee: A Genetic Tool for Subcellular and Cell-Specific Calcium Manipulation

Oriol Ros , Yvrick Zagar , Sandrine Couvet , Alain Aghaie , Fiona Roche , et al.
2019
Pré-publication, Document de travail hal-02361424v1
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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⟩
Article dans une revue pasteur-03215026v1

Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage

Jean Defourny , Alain Aghaie , Isabelle Perfettini , Paul Avan , Sedigheh Delmaghani , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (16), pp.8010-8017. ⟨10.1073/pnas.1821844116⟩
Article dans une revue hal-02318679v1
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Deafness: from genetic architecture to gene therapy

Christine Petit , Crystel Bonnet , Saaïd Safieddine
Nature Reviews Genetics, 2023, 24, pp.665-686. ⟨10.1038/s41576-023-00597-7⟩
Article dans une revue pasteur-04097478v1