Identification of WT and mutant OSBPL2 interactors
Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion Lumos, Orbitrap Fusion
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Kidney
SUBMITTER: 
young ik koh
LAB HEAD: young ik koh
PROVIDER: PXD021514 | Pride | 2023-03-10
REPOSITORIES: Pride
Publications
<i>OSBPL2</i> mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin.
Koh Young Ik YI Oh Kyung Seok KS Kim Jung Ah JA Noh Byunghwa B Choi Hye Ji HJ Joo Sun Young SY Rim John Hoon JH Kim Hye-Youn HY Kim Dong Yun DY Yu Seyoung S Kim Da Hye DH Lee Sang-Guk SG Jung Jinsei J Choi Jae Young JY Gee Heon Yung HY
Autophagy 20220306 11
Intracellular accumulation of mutant proteins causes proteinopathies, which lack targeted therapies. Autosomal dominant hearing loss (DFNA67) is caused by frameshift mutations in <i>OSBPL2</i>. Here, we show that DFNA67 is a toxic proteinopathy. Mutant OSBPL2 accumulated intracellularly and bound to macroautophagy/autophagy proteins. Consequently, its accumulation led to defective endolysosomal homeostasis and impaired autophagy. Transgenic mice expressing mutant OSBPL2 exhibited hearing loss, b ...[more]
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