Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.

Nature communications - 21 Feb 2023

Tebbe Lars, Mwoyosvi Maggie L, Crane Ryan, Makia Mustafa S, Kakakhel Mashal, Cosgrove Dominic, Al-Ubaidi Muayyad R, Naash Muna I

Abstract excerpt

Usher syndrome (USH) is the leading cause of combined deafness-blindness with type 2 A (USH2A) being the most common form. Knockout models of USH proteins, like the Ush2a-/- model that develops a late-onset retinal phenotype, failed to mimic the retinal phenotype observed in patients. Since patient's mutations result in the expression of a mutant protein and to determine the mechanism of USH2A, we generated and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Extracellular Matrix Proteins
Share to Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mice, Knockout

Share to Mutation

Share to Usher Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 36810733
DOI: 10.1038/s41467-023-36431-1
PMCID: PMC9944904

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.PMID 36810733Read ↗

Usherin defects lead to early-onset retinal dysfunction in zebrafish.Semantic proximity Read ↗

Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy.Semantic proximity Read ↗

Pathogenesis and Treatment of Usher Syndrome Type IIA.Semantic proximity Read ↗

Usher Syndrome: Genetics of a Human Ciliopathy.Semantic proximity Read ↗

Disease mechanisms and gene therapy for Usher syndrome.Semantic proximity Read ↗

Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization.Semantic proximity Read ↗

The retinal phenotype of Usher syndrome: pathophysiological insights from animal models.Semantic proximity Read ↗

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.Semantic proximity Read ↗

The effects of ush2a gene knockout on vesicle transport in photoreceptors.Semantic proximity Read ↗

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.Semantic proximity Read ↗

Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.Semantic proximity Read ↗

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.