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Article

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 - 1 Jan 2025

Chen Penghui, Hou Shule, Li Gen, Lin Yuzhe, Lu Jiawen, Song Lei, Li Geng-Lin, Pang Xiuhong, Wu Hao, Yang Tao

Abstract excerpt

The ribbon synapses of cochlear inner hair cells (IHCs) employ efficient vesicle resupply to enable fast and sustained release rates. However, the molecular mechanisms of these physiological activities remain unelucidated. Previous studies showed that the RAB-specific GTPase-activating protein TBC1D24 controls the endosomal trafficking of the synaptic vesicles (SVs) in Drosophila and mammalian neurons, and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39400345
DOI: 10.1111/cge.14620

Genes

TBC1D24
ARF6

Provenance

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The p. S178L mutation in Tbc1d24 disrupts endosome-mediated synaptic vesicle trafficking of cochlear hair cells and leads to hearing impairment in mice.PMID 39400345Read ↗

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