Timeline

Aziz El Amraoui

Head of Structure

18 Jan 2024

publication

Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.

20 Nov 2023

event

PhD thesis defense: Characterization of Disease Mechanisms Underlying Clarin-Mediated Progressive Hearing Loss | Maureen Wentling

19 May 2023

project

FFB USH1B project

19 May 2023

project

NanoEar

19 May 2023

publication

Frankenbacteriosis targeting interactions between pathogen and symbiont to control infection in the tick vector.

05 Aug 2022

publication

Usher syndrome Recent advances in our understanding of genes and therapeutics

28 Jun 2022

publication

Déficience auditive induite par le bruit : comment peut-elle être prévenue et traitée ?

04 Apr 2022

publication

Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions

01 Apr 2022

publication

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification

01 Sep 2021

publication

Vieillissement de l’oreille interne : bases génétiques et conséquences à l’échelle cellulaire et moléculaire.

01 Jun 2021

publication

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

25 May 2021

publication

Review of Genotype-Phenotype Correlations in Usher Syndrome

01 Apr 2021

publication

Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art

01 Jan 2021

publication

Progress in Gene Editing Tools and Their Potential for Correcting Mutations Underlying Hearing and Vision Loss

01 Sep 2020

publication

Disease mechanisms and gene therapy for Usher syndrome

21 Jul 2020

publication

Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges

01 Apr 2020

publication

Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family

01 Sep 2019

publication

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

01 Aug 2018

publication

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome.

12 Feb 2018

publication

Variants in CIB2 cause DFNB48 and not USH1J

31 Jan 2018

publication

Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments

01 Dec 2017

publication

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

19 Oct 2017

project

UsherModels

18 Oct 2017

project

HearInNoise

01 Aug 2017

publication

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

05 Jun 2017

publication

Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment

20 Apr 2017

event

“A Spectrin-bound phosphatase bridges Crumbs-mediated polarity and Hippo-mediated growth” – Dr Graham Thomas

21 Feb 2017

publication

Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians.

01 Dec 2016

publication

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

20 Oct 2016

publication

Cadherins in the auditory sensory organ

18 Aug 2016

publication

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

03 Jun 2016

publication

Cadherins in the Auditory Sensory Organ

18 Jan 2016

publication

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.

19 Nov 2015

project

TherapUsher

19 Nov 2015

project

RHU LIGHT4DEAF

16 Jul 2015

team

Progressive Sensory Disorders, PathoPhysiology and Therapy

24 Jun 2014

publication

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells

01 Mar 2014

publication

The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models Atteinte rétinienne dans le syndrome de Usher : contribution des modèles animaux à la physiopathologie

01 Feb 2014

publication

Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone-Rod Dystrophy.

15 Sep 2013

publication

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

01 Jan 2013

publication

Cadherin defects in inherited human diseases.

20 Oct 2012

publication

Gene and cell therapies to listen to the inner ear | Les thérapies génique et cellulaire à l’écoute de l’oreille interne

20 Oct 2012

publication

Hereditary hearing loss | Atteintes héréditaires de l’audition

15 Oct 2012

publication

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.

13 Sep 2012

publication

Pivotal role of M-DC8+ monocytes from viremic HIV-infected patients in TNF overproduction in response to microbial products.

01 Feb 2012

publication

Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.

01 Jan 2012

publication

The auditory hair cell ribbon synapse: from assembly to function.

11 May 2011

publication

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

01 Nov 2010

publication

[Stem cell therapy in the inner ear: recent achievements and prospects].

01 Jan 2010

publication

Cadherins as targets for genetic diseases.

01 Jun 2009

publication

The outer hair cell of the mammalian cochlea: An outstanding amplifier | La cellule ciliée externe de la cochlée des mammifères: Un amplificateur aux propriétés exceptionnelles

01 Feb 2009

publication

[The outer hair cell of the mammalian cochlea: an outstanding amplifier].

20 Oct 2008

publication

Myosin VII

15 Oct 2008

publication

αII-βV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells

15 Aug 2007

publication

Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions.

15 Dec 2005

publication

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

01 Nov 2005

publication

Vezatin, a protein associated to adherens junctions, is required for mouse blastocyst morphogenesis.

15 Oct 2005

publication

Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells

04 Jul 2005

publication

Syndrome de Usher de type 1 et développement de la touffe ciliaire des cellules sensorielles de l’oreille interne Usher syndrome type I and the differentiation of inner ear sensory cells’ hair bundles

01 Jul 2005

publication

PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa.

01 Feb 2005

publication

Interactions in the network of Usher syndrome type 1 proteins

01 Feb 2005

publication

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

15 Apr 2004

publication

Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells

10 Nov 2003

publication

Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites

01 Nov 2003

publication

Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells.

01 Oct 2003

publication

Involvement of the Rab27 binding protein Slac2c/MyRIP in insulin exocytosis.

01 Aug 2003

publication

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

01 Mar 2003

publication

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

16 Dec 2002

publication

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.

18 Apr 2002

publication

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes.

01 Aug 2001

publication

Spatiotemporal expression of otogelin in the developing and adult mouse inner ear

15 Nov 2000

publication

Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex

22 Sep 2000

publication

Unconventional Myosin VIIA Is a Novel A-kinase-anchoring Protein

11 Apr 2000

publication

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

01 Feb 2000

publication

Targeted disruption of otog results in deafness and severe imbalance

01 Apr 1999

publication

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

05 Feb 1999

publication

KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness

01 Dec 1998

publication

Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndrome

23 Dec 1997

publication

Otogelin: a glycoprotein specific to the acellular membranes of the inner ear

20 Oct 1997

publication

Towards a molecular understanding of the pathophysiology of Usher syndrome

15 Oct 1997

publication

Development and differentiation of pituitary cells

01 Aug 1997

publication

Expression of myosin VIIA during mouse embryogenesis

01 Mar 1997

publication

Cloning of the Genes Encoding Two Murine and Human Cochlear Unconventional Type I Myosins

23 Dec 1996

publication

Comigration of tyrosine hydroxylase- and gonadotropin-releasing hormone-immunoreactive neurons in the nasal area of human embryos

01 Aug 1996

publication

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

16 Apr 1996

publication

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

01 May 1995

publication

Interactions between adenohypophyseal, hypothalamic and nasal presumptive territories during early neurulation process

01 Dec 1993

publication

Experimental Evidence for the Early Commitment of the Presumptive Adenohypophysis

01 Jun 1993

publication

Experimental evidence for an early commitment of gonadotropin-releasing hormone neurons, with special regard to their origin from the ectoderm of nasal cavity presumptive territory

A little guide for advanced search:

Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.

PhD thesis defense: Characterization of Disease Mechanisms Underlying Clarin-Mediated Progressive Hearing Loss | Maureen Wentling

FFB USH1B project

NanoEar

Frankenbacteriosis targeting interactions between pathogen and symbiont to control infection in the tick vector.

Usher syndrome Recent advances in our understanding of genes and therapeutics

Déficience auditive induite par le bruit : comment peut-elle être prévenue et traitée ?

Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification

Vieillissement de l’oreille interne : bases génétiques et conséquences à l’échelle cellulaire et moléculaire.

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Review of Genotype-Phenotype Correlations in Usher Syndrome

Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art

Progress in Gene Editing Tools and Their Potential for Correcting Mutations Underlying Hearing and Vision Loss

Disease mechanisms and gene therapy for Usher syndrome

Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges

Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family

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

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome.

Variants in CIB2 cause DFNB48 and not USH1J

Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

UsherModels

HearInNoise

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

Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment

“A Spectrin-bound phosphatase bridges Crumbs-mediated polarity and Hippo-mediated growth” – Dr Graham Thomas

Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians.

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Cadherins in the auditory sensory organ

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

Cadherins in the Auditory Sensory Organ

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.

TherapUsher

RHU LIGHT4DEAF

Progressive Sensory Disorders, PathoPhysiology and Therapy

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells

The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models Atteinte rétinienne dans le syndrome de Usher : contribution des modèles animaux à la physiopathologie

Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone-Rod Dystrophy.

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

Cadherin defects in inherited human diseases.

Gene and cell therapies to listen to the inner ear | Les thérapies génique et cellulaire à l’écoute de l’oreille interne

Hereditary hearing loss | Atteintes héréditaires de l’audition

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.

Pivotal role of M-DC8+ monocytes from viremic HIV-infected patients in TNF overproduction in response to microbial products.

Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.

The auditory hair cell ribbon synapse: from assembly to function.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

[Stem cell therapy in the inner ear: recent achievements and prospects].

Cadherins as targets for genetic diseases.

The outer hair cell of the mammalian cochlea: An outstanding amplifier | La cellule ciliée externe de la cochlée des mammifères: Un amplificateur aux propriétés exceptionnelles

[The outer hair cell of the mammalian cochlea: an outstanding amplifier].

Myosin VII

αII-βV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells

Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions.

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

Vezatin, a protein associated to adherens junctions, is required for mouse blastocyst morphogenesis.

Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells

Syndrome de Usher de type 1 et développement de la touffe ciliaire des cellules sensorielles de l’oreille interne Usher syndrome type I and the differentiation of inner ear sensory cells’ hair bundles

PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa.

Interactions in the network of Usher syndrome type 1 proteins

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells

Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites

Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells.

Involvement of the Rab27 binding protein Slac2c/MyRIP in insulin exocytosis.

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes.

Spatiotemporal expression of otogelin in the developing and adult mouse inner ear

Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex

Unconventional Myosin VIIA Is a Novel A-kinase-anchoring Protein

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

Targeted disruption of otog results in deafness and severe imbalance

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness

Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndrome

Otogelin: a glycoprotein specific to the acellular membranes of the inner ear