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

Analysis of a Novel Mouse Mutation of the Deafness Gene Pejvakin.

Genesis (New York, N.Y. : 2000) - 1 Feb 2026

Marcos-Almaraz Maria Teresa, Aparicio Rebeca Llorente, López-Hernández Iris, Harasztosi Csaba, Knipper Marlies, Rüttiger Lukas, Singer Wibke, de la Fuente Miguel Angel, Schimmang Thomas

Abstract excerpt

Loss of function of the Pejvakin (Pjvk) gene has been associated with deafness induced by cellular stress. This has been postulated to occur due to defective peroxisome biogenesis. Here, we have characterized a novel mouse mutation lacking exon 3 of the Pjvk coding region. A mouse mutant carrying this mutation showed loss of hair cells associated with profound deafness and reduced outer hair cell function. A cell...

Read the complete abstract on PubMed

Topics

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

Share to Mice
Share to Catalase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deafness

Share to Hair Cells, Auditory

Share to Oxidative Stress

Share to Peroxisomes

Share to Proteins

Source

Identifiers

PMID: 41556359
DOI: 10.1002/dvg.70041

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of a Novel Mouse Mutation of the Deafness Gene Pejvakin.PMID 41556359Read ↗

The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear.Semantic proximity Read ↗

Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair Cell Function in a Cell-Autonomous Manner.Semantic proximity Read ↗

Inner ear defect similar to Alport's syndrome in the glomerulosclerosis mouse model Mpv17.Semantic proximity Read ↗

The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration.Semantic proximity Read ↗

TRPML3 mutations cause impaired mechano-electrical transduction and depolarization by an inward-rectifier cation current in auditory hair cells of varitint-waddler mice.Semantic proximity Read ↗

Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice.Semantic proximity Read ↗

Effects of a mutation in the Drosophila porin gene encoding mitochondrial voltage-dependent anion channel protein on phototransduction.Semantic proximity Read ↗

TRPML3 and hearing loss in the varitint-waddler mouse.Semantic proximity Read ↗

Characterization of a novel ENU-generated myosin VI mutant mouse strain with congenital deafness and vestibular dysfunction.Semantic proximity Read ↗

Trafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutants.Semantic proximity Read ↗

Location of the velvet coat mutant in linkage group VI of the mouse.Semantic proximity Read ↗

Comparison of phenotypes between different vangl2 mutants demonstrates dominant effects of the Looptail mutation during hair cell development.Semantic proximity Read ↗

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