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

Localization of PDZD7 to the Stereocilia Ankle-Link Associates this Scaffolding Protein with the Usher Syndrome Protein Network

10 Oct 2012

Abstract excerpt

Usher syndrome is the leading cause of genetic deaf-blindness. Monoallelic mutations in PDZD7 increase the severity of Usher type II syndrome caused by mutations in USH2A and GPR98, which respectively encode usherin and GPR98. PDZ domain-containing 7 protein (PDZD7) is a paralog of the scaffolding proteins harmonin and whirlin, which are implicated in Usher type 1 and type 2 syndromes. While usherin and GPR98...

Read the complete abstract on PubMed

Topics

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

Share to Ear Surgery and Otitis Media
Share to Hearing, Cochlea, Tinnitus, Genetics
Share to Vestibular and auditory disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 23055499
DOI: 10.1523/jneurosci.3071-12.2012

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Localization of PDZD7 to the Stereocilia Ankle-Link Associates this Scaffolding Protein with the Usher Syndrome Protein NetworkPMID 23055499Read ↗

Lack of PDZD7 long isoform disrupts ankle-link complex and causes hearing loss in mice.Semantic proximity Read ↗

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

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.Semantic proximity Read ↗

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairmentSemantic 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 ↗

Usher protein functions in hair cells and photoreceptorsSemantic proximity Read ↗

Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis.Semantic proximity Read ↗

Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.Semantic proximity Read ↗

MAGI-1, A Candidate Stereociliary Scaffolding Protein, Associates with the Tip-Link Component Cadherin 23Semantic proximity Read ↗

Expression landscape of the genetic hearing loss protein whirlin across human tissues and cell typesSemantic proximity Read ↗

Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosinsSemantic 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.