Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome (Q58108796)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

title

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

Tonia Vincent

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

Abdelaziz Tlili

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

Elise Pepermans

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

Aziz El-Amraoui

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

19

Christine Petit

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

2

Samantha Papal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

10

Vincent Michel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

3

Pranav Patni

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

7

Alice Emptoz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

17

Paul Avan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

11

Sedigheh Delmaghani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

author name string

Matteo Cortese

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

Margot Tertrais

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

Yohan Bouleau

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

Alain Aghaie

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

Olinda Alegria-Prevot

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

Omar Akil

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

Lawrence Lustig

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

Saaid Safieddine

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

language of work or name

English

0 references

publication date

9 July 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

5 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

volume

128

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

page(s)

3382-3401

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III.

5 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

α2δ2 Controls the Function and Trans-Synaptic Coupling of Cav1.3 Channels in Mouse Inner Hair Cells and Is Essential for Normal Hearing.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Lengthening of the Stargazin Cytoplasmic Tail Increases Synaptic Transmission by Promoting Interaction to Deeper Domains of PSD-95.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Glutamate-induced AMPA receptor desensitization increases their mobility and modulates short-term plasticity through unbinding from Stargazin

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Direct interaction of CaVβ with actin up-regulates L-type calcium currents in HL-1 cardiomyocytes

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Clarin-1 acts as a modulator of mechanotransduction activity and presynaptic ribbon assembly

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Exocytotic Machineries of Vestibular Type I and Cochlear Ribbon Synapses Display Similar Intrinsic Otoferlin-Dependent Ca2 Sensitivity But a Different Coupling to Ca2 Channels

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

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

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

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

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Thrombospondins 1 and 2 are important for afferent synapse formation and function in the inner ear.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Developmental refinement of hair cell synapses tightens the coupling of Ca2 influx to exocytosis

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

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

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Harmonin enhances voltage-dependent facilitation of Cav1.3 channels and synchronous exocytosis in mouse inner hair cells

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Disruption of the presynaptic cytomatrix protein bassoon degrades ribbon anchorage, multiquantal release, and sound encoding at the hair cell afferent synapse.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Cooperation of Syd-1 with Neurexin synchronizes pre- with postsynaptic assembly.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Harmonin inhibits presynaptic Cav1.3 Ca²⁺ channels in mouse inner hair cells

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Lateral Mobility of Presynaptic L-Type Calcium Channels at Photoreceptor Ribbon Synapses

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Opposing Gradients of Ribbon Size and AMPA Receptor Expression Underlie Sensitivity Differences among Cochlear-Nerve/Hair-Cell Synapses

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

How the genetics of deafness illuminates auditory physiology

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

The Ca2 channel subunit beta2 regulates Ca2 channel abundance and function in inner hair cells and is required for hearing

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

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

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Synapses: sites of cell recognition, adhesion, and functional specification.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Few CaV1.3 channels regulate the exocytosis of a synaptic vesicle at the hair cell ribbon synapse.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Hair cell synaptic ribbons are essential for synchronous auditory signalling

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Increase in efficiency and reduction in Ca2 dependence of exocytosis during development of mouse inner hair cells

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

CaV1.3 channels are essential for development and presynaptic activity of cochlear inner hair cells.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Excitotoxicity, synaptic repair, and functional recovery in the mammalian cochlea: a review of recent findings

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

CD1 hearing-impaired mice. II. Group latencies and optimal f2/f1 ratios of distortion product otoacoustic emissions, and scanning electron microscopy

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Maternally expressed PGK-Cre transgene as a tool for early and uniform activation of the Cre site-specific recombinase

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6063508

Impairment of Vision in a Mouse Model of Usher Syndrome Type III

30 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29985171

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI94351

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29985171 AND SRC:MED&resulttype=core&format=json

5 April 2020

PubMed publication ID

29985171

1 reference