A novel BCAP31 variant associated with nonsyndromic auditory neuropathy spectrum disorder: mitochondrial dysfunction, cisplatin sensitivity, and amenability to mitochondrial transplantation

A novel BCAP31 variant associated with nonsyndromic auditory neuropathy spectrum disorder: mitochondrial dysfunction, cisplatin sensitivity, and amenability to mitochondrial transplantation

Abstract Background A novel in-frame insertion variant in the B-Cell Receptor-Associated Protein 31 (BCAP31) gene, which encodes a crucial ER membrane protein involved in the quality control and transport of transmembrane proteins, as well as in ER-mitochondria apoptotic signaling, was determined in...

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Main Authors: Yehree Kim, Yujin Kim, Bong Jik Kim, Shin-Hye Yu, Jin Hee Han, Minyoung Kim, Nayoung Yi, Seo-Eun Lee, Ju Ang Kim, Kyuboem Han, Chun-Hyung Kim, Young Cheol Kang, Byung Yoon Choi
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Journal of Translational Medicine
Subjects:
BAP31/BCAP31
Hearing loss
Mitochondria
Transplantation
Apoptosis
Online Access:https://doi.org/10.1186/s12967-025-06610-3
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