The p. S178L mutation in Tbc1d24 disrupts endosome‐mediated synaptic vesicle trafficking of cochlear hair cells and leads to hearing impairment in mice
Chen P, Hou S, Li G, Lin Y, Lu J, Song L, Li G, Pang X, Wu H, Yang T. The p. S178L mutation in Tbc1d24 disrupts endosome‐mediated synaptic vesicle trafficking of cochlear hair cells and leads to hearing impairment in mice. Clinical Genetics 2024 PMID: 39400345, DOI: 10.1111/cge.14620.Peer-Reviewed Original ResearchNon-syndromic hearing lossSynaptic vesiclesRibbon synapses of cochlear inner hair cellsAutosomal dominant non-syndromic hearing lossDominant non-syndromic hearing lossEndosome-like vacuolesEndosomal membrane traffickingInner hair cellsSynaptic vesicle traffickingHearing lossRibbon synapsesHair cell ribbon synapsesKnock-in mouse modelMutant miceSustained exocytosisVesicle traffickingEndosomal traffickingMembrane traffickingVesicle recyclingIn vitro interactionCochlear inner hair cellsReduced exocytosisWave I amplitudeMild hearing lossAuditory brainstem responseDMXL2 Is Required for Endocytosis and Recycling of Synaptic Vesicles in Auditory Hair Cells
Peng H, Wang L, Gao Y, Liu H, Lin G, Kong Y, Xu P, Liu H, Yuan Q, Liu H, Song L, Yang T, Wu H. DMXL2 Is Required for Endocytosis and Recycling of Synaptic Vesicles in Auditory Hair Cells. Journal Of Neuroscience 2024, 44: e1405232024. PMID: 39147590, PMCID: PMC11411588, DOI: 10.1523/jneurosci.1405-23.2024.Peer-Reviewed Original ResearchEndocytic membrane retrievalSynaptic vesiclesSynaptic exocytosisMembrane retrievalEndocytic compartmentsMolecular machineryRecycling of synaptic vesiclesReserve poolMembrane capacitance measurementsRibbon synapses of inner hair cellsElectron microscopy reconstructionsAuditory synaptopathyMutant miceSynaptic endocytosisCell-specific knockout miceHuman homologMembrane-proximalHair cellsAuditory hair cellsMolecular basisEndocytosisRibbon synapsesInner hair cellsHearing lossDMXL2