| OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome. | OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome.
Wang Y, Zhao A, Zhou N, Wang X, Pan C, Zhou S, Huang H, Yang Y, Yang J, Yang Y, Zhang J, Chen F, Cao Q, Zhao J, Zhang S, Li M, Li M. | 05/29/2024 |
| ORP2 couples LDL-cholesterol transport to FAK activation by endosomal cholesterol/PI(4,5)P2 exchange. | ORP2 couples LDL-cholesterol transport to FAK activation by endosomal cholesterol/PI(4,5)P(2) exchange.
Takahashi K, Kanerva K, Vanharanta L, Almeida-Souza L, Lietha D, Olkkonen VM, Ikonen E., Free PMC Article | 11/22/2021 |
| Circ-OSBPL2 Contributes to Smoke-Related Chronic Obstructive Pulmonary Disease by Targeting miR-193a-5p/BRD4 Axis. | Circ-OSBPL2 Contributes to Smoke-Related Chronic Obstructive Pulmonary Disease by Targeting miR-193a-5p/BRD4 Axis.
Zheng C, Zhang Y, Zhao Y, Duan Y, Mu Q, Wang X., Free PMC Article | 07/31/2021 |
| ORP2, a cholesterol transporter, regulates angiogenic signaling in endothelial cells. | ORP2, a cholesterol transporter, regulates angiogenic signaling in endothelial cells.
Koponen A, Pan G, Kivelä AM, Ralko A, Taskinen JH, Arora A, Kosonen R, Kari OK, Ndika J, Ikonen E, Cho W, Yan D, Olkkonen VM. | 05/1/2021 |
| Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity. | Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity.
Wang H, Lin C, Yao J, Shi H, Zhang C, Wei Q, Lu Y, Chen Z, Xing G, Cao X., Free PMC Article | 09/12/2020 |
| It identified novel pathways modulated by OSBPL2 orthologues, providing new insight into the mechanism of hearing loss induced by OSBPL2 deficiency. | Comparative transcriptome analysis of auditory OC-1 cells and zebrafish inner ear tissues in the absence of human OSBPL2 orthologues.
Shi H, Wang H, Yao J, Lin C, Wei Q, Lu Y, Cao X. | 07/11/2020 |
| OSBPL2 deficiency upregulates SQLE expression and increases the accumulation of cholesterol and cholesteryl ester by suppressing AMPK signalling, which provides new evidence of the connection between OSBPL2 and cholesterol synthesis. | OSBPL2 deficiency upregulate SQLE expression increasing intracellular cholesterol and cholesteryl ester by AMPK/SP1 and SREBF2 signalling pathway.
Zhang C, Zhang H, Zhang M, Lin C, Wang H, Yao J, Wei Q, Lu Y, Chen Z, Xing G, Cao X. | 07/4/2020 |
| Whole genome sequencing identified a novel pathogenic frameshift mutation, a two-nucleotide deletion, in OSBPL2 (c.158_159delAA) as the pathogenic variant for deafness in a Mongolian family. This finding expands the mutational spectrum of OSBPL2 and contributes to the pathogenic variant list in genetic counseling for deafness screening. | A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.
Wu N, Husile H, Yang L, Cao Y, Li X, Huo W, Bai H, Liu Y, Wu Q., Free PMC Article | 08/24/2019 |
| ORP2 regulates the levels of both cholesterol and PI(4,5)P2 on the plasma membrane, and ORP2 forms a tetramer to efficiently transfer PI(4,5)P2. | ORP2 Delivers Cholesterol to the Plasma Membrane in Exchange for Phosphatidylinositol 4, 5-Bisphosphate (PI(4,5)P(2)).
Wang H, Ma Q, Qi Y, Dong J, Du X, Rae J, Wang J, Wu WF, Brown AJ, Parton RG, Wu JW, Yang H. | 06/1/2019 |
| 25-Hydroxycholesterol down-regulates the expression of OSBPL2 in the HeLa cells. 25-hydroxycholesterol down-regulates OSBPL2 via the p53/SREBP2/NFYA signaling pathway. | 25-hydroxycholesterol down-regulates oxysterol binding protein like 2 (OSBPL2) via the p53/SREBF2/NFYA signaling pathway.
Wang Q, Lin C, Zhang C, Wang H, Lu Y, Yao J, Wei Q, Xing G, Cao X. | 05/25/2019 |
| data demonstrates that ORP2 binds several phosphoinositides, both PI(4)P and multiply phosphorylated species. ORP2 regulates the subcellular distribution of cholesterol dependent on its PIP-binding capacity. The interaction of ORP2 with ORP1L suggests a concerted action of the two ORPs | ORP2 interacts with phosphoinositides and controls the subcellular distribution of cholesterol.
Koponen A, Arora A, Takahashi K, Kentala H, Kivelä AM, Jääskeläinen E, Peränen J, Somerharju P, Ikonen E, Viitala T, Olkkonen VM. | 03/2/2019 |
| point at a novel function of ORP2 as a lipid-sensing regulator of the actin cytoskeleton, with impacts on hepatocellular migration, adhesion, and proliferation | Analysis of ORP2-knockout hepatocytes uncovers a novel function in actin cytoskeletal regulation.
Kentala H, Koponen A, Kivelä AM, Andrews R, Li C, Zhou Y, Olkkonen VM. | 11/17/2018 |
| this study identifies ORP2 as a new regulatory nexus of Akt signaling, cellular energy metabolism, actin cytoskeletal function, cell migration, and proliferation. | OSBP-related protein-2 (ORP2): a novel Akt effector that controls cellular energy metabolism.
Kentala H, Koponen A, Vihinen H, Pirhonen J, Liebisch G, Pataj Z, Kivelä A, Li S, Karhinen L, Jääskeläinen E, Andrews R, Meriläinen L, Matysik S, Ikonen E, Zhou Y, Jokitalo E, Olkkonen VM., Free PMC Article | 10/6/2018 |
| a novel role for ORP2 in regulating steroidogenic capacity and cholesterol homeostasis in the adrenal cortex | Oxysterol-related-binding-protein related Protein-2 (ORP2) regulates cortisol biosynthesis and cholesterol homeostasis.
Escajadillo T, Wang H, Li L, Li D, Sewer MB., Free PMC Article | 01/14/2017 |
| This study and the recent description of another frameshift mutation in a Chinese ADNSHL family identify OSBPL2 as a novel gene for progressive deafness. | OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, Bolz HJ., Free PMC Article | 01/23/2016 |
| Results identified frameshift and missense mutation in OSBPL2 gene in familial and sporadic case of deafness suggesting OSBPL2 as a novel candidate gene for autosomal dominant nonsyndromic hearing loss . | Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.
Xing G, Yao J, Wu B, Liu T, Wei Q, Liu C, Lu Y, Chen Z, Zheng H, Yang X, Cao X. | 11/21/2015 |
| Complexes of human ORP2 and VAPs at endoplasmic reticulum-lipid droplet interfaces regulate the hydrolysis of triglycerides and lipid droplet turnover. | Ligand-dependent localization and function of ORP-VAP complexes at membrane contact sites.
Weber-Boyvat M, Kentala H, Peränen J, Olkkonen VM., Free PMC Article | 06/27/2015 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Results identify ORP2 as a sterol receptor present on LD and provide evidence for its role in the regulation of neutral lipid metabolism, possibly as a factor that integrates the cellular metabolism of triglycerides with that of cholesterol. | OSBP-related protein 2 is a sterol receptor on lipid droplets that regulates the metabolism of neutral lipids.
Hynynen R, Suchanek M, Spandl J, Bäck N, Thiele C, Olkkonen VM., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. OSBPL10, a novel candidate gene for high triglyceride trait in dyslipidemic Finnish subjects, regulates cellular lipid metabolism.
Perttilä J, Merikanto K, Naukkarinen J, Surakka I, Martin NW, Tanhuanpää K, Grimard V, Taskinen MR, Thiele C, Salomaa V, Jula A, Perola M, Virtanen I, Peltonen L, Olkkonen VM. | 08/12/2009 |
| ORP2 as a novel regulator of cellular sterol homeostasis and intracellular membrane trafficking. | ORP2, a homolog of oxysterol binding protein, regulates cellular cholesterol metabolism.
Laitinen S, Lehto M, Lehtonen S, Hyvärinen K, Heino S, Lehtonen E, Ehnholm C, Ikonen E, Olkkonen VM. | 01/21/2010 |