ArticleThe Journal of physiology2021
VGLUT3-p.A211V variant fuses stereocilia bundles and elongates synaptic ribbons.
Article in The Journal of physiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Ferritin light-chain contributes to hair cells function and survival.Communications biology · 2026Article
- Persistence of vestibular function in the absence of glutamatergic transmission from hair cells.Scientific reports · 2026Article
- Current Advances in Gene Therapies of Genetic Auditory Neuropathy Spectrum Disorder.Journal of clinical medicine · 2023Review
- Synaptic activity is not required for establishing heterogeneity of inner hair cell ribbon synapses.Frontiers in molecular neuroscience · 2023Article
- A New Player in the Hippocampus: A Review on VGLUT3+ Neurons and Their Role in the Regulation of Hippocampal Activity and Behaviour.International journal of molecular sciences · 2022Review
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
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Abstract
DFNA25 is an autosomal-dominant and progressive form of human deafness caused by mutations in the SLC17A8 gene, which encodes the vesicular glutamate transporter type 3 (VGLUT3). To resolve the mechanisms underlying DFNA25, we studied phenotypes of mice harbouring the p.A221V mutation in humans (corresponding to p.A224V in mice). Using auditory brainstem response and distortion product otoacoustic emissions, we showed progressive hearing loss with intact cochlear amplification in the VGLUT3
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Registered trials
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