The OTOF gene(GenBank AF183185.1)encodes otoferlin,a protein essential for vesicle fusion,synaptic exocytosis,and vesicle replenishment at cochlear inner hair cell synapses,where it functions as a calcium sensor.1 A d...The OTOF gene(GenBank AF183185.1)encodes otoferlin,a protein essential for vesicle fusion,synaptic exocytosis,and vesicle replenishment at cochlear inner hair cell synapses,where it functions as a calcium sensor.1 A deficiency in otoferlin results in impaired synaptic neurotransmitter release and vesicle recycling,1,2 accompanied by a significant reduction in inner hair cell synapse counts,ultimately leading to prelingual auditory neuropathy spectrum disorder(DFNB9:OMIM 60381).展开更多
基金supported by the Basic Science Research Program through the National Research Foundation(NRF),funded by the Ministry of Education of South Korea(No.2021R1A2C2092038 to Choi.B.Y.,2022R1I1A3072036 to Yi,E.)in part by Glocal University Project of Mokpo National University in 2024(to Yi,E.)+3 种基金the Bio Core Facility center program through the NRF(South Korea)(No.2022M3A9G1014007 to Choi,B.Y.)provided by the Basic Research Laboratory Program through the NRF,funded by the Ministry of Education of South Korea(No.RS-2023-0021971031482092640001 to Choi,B.Y.)the Technology Innovation Program(K_G012002572001 to Choi.B.Y.)funded By the Ministry of Trade,Industry and Energy.This study is also funded by SNUBH intramural research fund(South Korea)(No.13-2022-0010,02-2017-0060,16-2023-0002,13-2023-0002,16-2022-0005,13-2024-0004,and 13-2017-0013 to Choi.B.Y.)the SNUBH-Basic Co-Research Fund(South Korea)(No.16-2024-0011).
文摘The OTOF gene(GenBank AF183185.1)encodes otoferlin,a protein essential for vesicle fusion,synaptic exocytosis,and vesicle replenishment at cochlear inner hair cell synapses,where it functions as a calcium sensor.1 A deficiency in otoferlin results in impaired synaptic neurotransmitter release and vesicle recycling,1,2 accompanied by a significant reduction in inner hair cell synapse counts,ultimately leading to prelingual auditory neuropathy spectrum disorder(DFNB9:OMIM 60381).
