Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with AIFM1 variant

Auditory neuropathy spectrum disorder (ANSD) is a hearing impairment caused by dysfunction of inner hair cells, ribbon synapses, spiral ganglion neurons and/or the auditory nerve itself. Approximately 1/7000 newborns have abnormal auditory nerve function, accounting for 10%-14% of cases of permanent...

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Detalles Bibliográficos
Autores principales: Qiu, Yue, Wang, Hongyang, Fan, Mingjie, Pan, Huaye, Guan, Jing, Jiang, Yangwei, Jia, Zexiao, Wu, Kaiwen, Zhou, Hui, Zhuang, Qianqian, Lei, Zhaoying, Ding, Xue, Cai, Huajian, Dong, Yufei, Yan, Lei, Lin, Aifu, Fu, Yong, Zhang, Dong, Yan, Qingfeng, Wang, Qiuju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10293272/
https://www.ncbi.nlm.nih.gov/pubmed/37365177
http://dx.doi.org/10.1038/s41419-023-05899-6

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