OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin

Intracellular accumulation of mutant proteins causes proteinopathies, which lack targeted therapies. Autosomal dominant hearing loss (DFNA67) is caused by frameshift mutations in OSBPL2. Here, we show that DFNA67 is a toxic proteinopathy. Mutant OSBPL2 accumulated intracellularly and bound to macroa...

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Detalles Bibliográficos
Autores principales: Koh, Young Ik, Oh, Kyung Seok, Kim, Jung Ah, Noh, Byunghwa, Choi, Hye Ji, Joo, Sun Young, Rim, John Hoon, Kim, Hye-Youn, Kim, Dong Yun, Yu, Seyoung, Kim, Da Hye, Lee, Sang-Guk, Jung, Jinsei, Choi, Jae Young, Gee, Heon Yung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9629061/
https://www.ncbi.nlm.nih.gov/pubmed/35253614
http://dx.doi.org/10.1080/15548627.2022.2040891

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