Dataset Information

Identification of WT and mutant OSBPL2 interactors

ABSTRACT: Pathogenic OSBPL2 mutations led to almost identical truncated proteins, which formed cytoplasmic aggregates, we performed a proteomic analysis to understand the function of mutant OSBPL2 via the identification of its interactome.

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

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Dataset's files

Source:

			Action	DRS
	20190319_50cmColumn_YSU_KYI_OSBPL2_Q53R_1.mzXML	Mzxml
	20190319_50cmColumn_YSU_KYI_OSBPL2_Q53R_1.raw	Raw
	20190319_50cmColumn_YSU_KYI_OSBPL2_Q53R_2.mzXML	Mzxml
	20190319_50cmColumn_YSU_KYI_OSBPL2_Q53R_2.raw	Raw
	20190319_50cmColumn_YSU_KYI_OSBPL2_WT_1.mzXML	Mzxml

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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]

PMID: 35253614

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