ArticleThe Journal of biological chemistry2010
Role of protein misfolding in DFNA9 hearing loss.
Article in The Journal of biological chemistry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Genotype-Phenotype Correlations of PathogenicBiomolecules · 2022Pooled it
- A systematic review of hearing and vestibular function in carriers of the Pro51Ser mutation in the COCH gene.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2019Pooled it
- Observational
- Loss ofMatrix biology plus · 2025Article
- Common genetic etiologies of sensorineural hearing loss in Koreans.Genomics & informatics · 2024Review
- Loss ofbioRxiv : the preprint server for biology · 2024Article
- Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene.Scientific reports · 2024Article
- A NovelLife (Basel, Switzerland) · 2023Article
- Construction of mouse cochlin mutants with different GAG-binding specificities and their use for immunohistochemistry.The Biochemical journal · 2023Article
- COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.Human genetics · 2022Article
- Article
- AON-based degradation of c.151C>T mutantMolecular therapy. Nucleic acids · 2021Article
- Cochlin Deficiency Protects Against Noise-Induced Hearing Loss.Frontiers in molecular neuroscience · 2021Article
- The Price of Immune Responses and the Role of Vitamin D in the Inner Ear.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2019Review
- Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.Human mutation · 2018Article
- Genes important for otoneurological diagnostic purposes - current status and future prospects.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2018Review
- Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.Wiener klinische Wochenschrift · 2018Article
- Sequencing of exons 4, 5, 12 of COCH gene in patients with postlingual sensorineural hearing loss accompanied by vestibular lesion.Archives of medical science : AMS · 2018Article
- Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.European journal of human genetics : EJHG · 2018Article
- Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review.Frontiers in neuroscience · 2017Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in the COCH (coagulation factor C homology) gene have been attributed to DFNA9 (deafness, autosomal-dominant 9), an autosomal-dominant non-syndromic hearing loss disorder. However, the mechanisms responsible for DFNA9 hearing loss remain unknown. Here, we demonstrate that mutant cochlin, the protein product of the COCH gene, forms a stable dimer that is sensitive to reducing agent. In contrast, wild-type (WT) cochlin may form only dimers transiently. Interestingly, the presence of mutant cochlin can stabilize WT cochlin in dimer conformation, providing a possible mechanism for the dominant nature of DFNA9 mutations. Furthermore, the expression of mutant cochlin eventually induces WT cochlin to form stable oligomers that are resistant to reducing agent. Finally, we show that mutant cochlin is cytotoxic in vitro and in vivo. Our study suggests a possible molecular mechanism underlying DFNA9 hearing loss and provides an in vitro model that may be used to explore protein-misfolding diseases in general.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.