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Current Advances in Gene Therapies of Genetic Auditory Neuropathy Spectrum Disorder
Anissa Rym Saidia
,
Jérôme Ruel
,
Amel Bahloul
,
Benjamin Chaix
,
Frédéric Venail
et al.
Article dans une revue
(article de synthèse)
hal-04311297
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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-03215054
v1
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Deciphering the Unexpected Binding Capacity of the Third PDZ Domain of Whirlin to Various Cochlear Hair Cell Partners
Yanlei Zhu
,
Florent Delhommel
,
Florence Cordier
,
Susanne Lüchow
,
Ariel E Mechaly
et al.
Article dans une revue
hal-02990253
v1
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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.
Article dans une revue
hal-02433812
v1
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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.
Article dans une revue
hal-02988089
v1
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Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses
Nicolas Michalski
,
Juan D Goutman
,
Sarah Marie Auclair
,
Jacques Boutet de Monvel
,
Margot Tertrais
et al.
Article dans une revue
hal-01665122
v1
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CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival
Vincent Michel
,
Kevin T Booth
,
Pranav Patni
,
Matteo Cortese
,
Hela Azaiez
et al.
Article dans une revue
hal-01661175
v1
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Structural Characterization of Whirlin Reveals an Unexpected and Dynamic Supramodule Conformation of Its PDZ Tandem
Florent Delhommel
,
Florence Cordier
,
Benjamin Bardiaux
,
Guillaume Bouvier
,
Baptiste Colcombet-Cazenave
et al.
Article dans une revue
pasteur-02883914
v1
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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.
Article dans une revue
pasteur-01858477
v1
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Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome
Samia Abdi
,
Amel Bahloul
,
Asma Behlouli
,
Jean-Pierre Hardelin
,
Mohamed Makrelouf
et al.
Article dans une revue
hal-01388303
v1
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The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells
Elise Pepermans
,
Michel Vittot
,
Richard Goodyear
,
Crystel Bonnet
,
Samia Abdi
et al.
Article dans une revue
pasteur-01237053
v1
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Crystal Structure of Two Anti-Porphyrin Antibodies with Peroxidase Activity
Victor Muñoz Robles
,
Jean-Didier Maréchal
,
Amel Bahloul
,
Marie-Agnès Sari
,
Jean-Pierre Mahy
et al.
Article dans une revue
hal-03280278
v1
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Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.
Iman Sahly
,
Eric Dufour
,
Cataldo Schietroma
,
Vincent Michel
,
Amel Bahloul
et al.
Article dans une revue
inserm-00743698
v1
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Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.
Elisa Caberlotto
,
Michel Vittot
,
Isabelle Foucher
,
Amel Bahloul
,
Richard J Goodyear
et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011, 108 (14), pp.5825-30. ⟨10.1073/pnas.1017114108⟩
Article dans une revue
pasteur-01472844
v1
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Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids
Amel Bahloul
,
Vincent Michel
,
Jean-Pierre Hardelin
,
Sylvie Nouaille
,
Sylviane Hoos
et al.
Article dans une revue
pasteur-03525648
v1
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Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses
Isabelle Roux
,
Suzanne Hosie
,
Stuart Johnson
,
Amel Bahloul
,
Nadège Cayet
et al.
Article dans une revue
hal-04159601
v1
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Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells.
Amel Bahloul
,
Marie-Christine Simmler
,
Vincent Michel
,
Michel Leibovici
,
Isabelle Perfettini
et al.
Article dans une revue
hal-00477439
v1
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Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.
Isabelle Roux
,
Saaid Safieddine
,
Régis Nouvian
,
M'Hamed Grati
,
Marie-Christine Simmler
et al.
Article dans une revue
hal-00111976
v1
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Electrospray ionization mass spectrometry studies of noncovalent myosin VI complexes reveal a new specific calmodulin binding site
Guillaume Chevreux
,
Noelle Potier
,
Alain Dorsselaer
,
Amel Bahloul
,
Anne Houdusse
et al.
Article dans une revue
istex
hal-02981194
v1
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PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa.
Raphael Etournay
,
Aziz El-Amraoui
,
Amel Bahloul
,
Stéphane Blanchard
,
Isabelle Roux
et al.
Article dans une revue
pasteur-01541848
v1
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Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
Batiste Boëda
,
Aziz El-Amraoui
,
Amel Bahloul
,
Richard Goodyear
,
Laurent Daviet
et al.
Article dans une revue
pasteur-05017570
v1
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