1 | OSBPL2, SQLE
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| OSBPL2 deficiency upregulate SQLE expression increasing intracellular cholesterol and cholesteryl ester by AMPK/SP1 and SREBF2 signalling pathway.
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| Zhang C, Zhang H, Zhang M, Lin C, Wang H, Yao J, Wei Q, Lu Y, Chen Z, Xing G, Cao X.
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| Exp Cell Res 383(2):111512. doi: 10.1016/j.yexcr.2019.111512. Epub 2019 Jul 26.
2019
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2 | ATIC, OSBPL2
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| Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity.
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| Wang H, Lin C, Yao J, Shi H, Zhang C, Wei Q, Lu Y, Chen Z, Xing G, Cao X.
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| Cell Death Dis 10(9):627. doi: 10.1038/s41419-019-1858-9.
2019
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3 | DFNA67, OSBPL2
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| A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.
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| Wu N, Husile H, Yang L, Cao Y, Li X, Huo W, Bai H, Liu Y, Wu Q.
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| BMC Med Genet 20(1):43. doi: 10.1186/s12881-019-0781-3.
2019
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4 | DFNA67, OSBPL2
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| OSBP-related protein 2 (ORP2): Unraveling its functions in cellular lipid/carbohydrate metabolism, signaling and F-actin regulation.
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| Olkkonen VM, Koponen A, Arora A.
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| J Steroid Biochem Mol Biol 192:105298. doi: 10.1016/j.jsbmb.2019.01.016. Epub 2019 Feb 2. Review.
2019
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5 | OSBPL2
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| ORP2 interacts with phosphoinositides and controls the subcellular distribution of cholesterol.
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| Koponen A, Arora A, Takahashi K, Kentala H, Kivelä AM, Jääskeläinen E, Peränen J, Somerharju P, Ikonen E, Viitala T, Olkkonen VM.
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| Biochimie 158:90-101. doi: 10.1016/j.biochi.2018.12.013. Epub 2018 Dec 24.
2019
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6 | OSBPL2
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| ORP2 Delivers Cholesterol to the Plasma Membrane in Exchange for Phosphatidylinositol 4, 5-Bisphosphate (PI(4,5)P2).
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| Wang H, Ma Q, Qi Y, Dong J, Du X, Rae J, Wang J, Wu WF, Brown AJ, Parton RG, Wu JW, Yang H.
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| Mol Cell 73(3):458-473.e7. doi: 10.1016/j.molcel.2018.11.014. Epub 2018 Dec 20.
2019
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7 | OSBPL2
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| OSBP-related protein-2 (ORP2): a novel Akt effector that controls cellular energy metabolism.
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| 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.
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| Cell Mol Life Sci 75(21):4041-4057. doi: 10.1007/s00018-018-2850-8. Epub 2018 Jun 12.
2018
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8 | OSBPL2
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| Analysis of ORP2-knockout hepatocytes uncovers a novel function in actin cytoskeletal regulation.
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| Kentala H, Koponen A, Kivelä AM, Andrews R, Li C, Zhou Y, Olkkonen VM.
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| FASEB J 32(3):1281-1295. doi: 10.1096/fj.201700604R. Epub 2018 Jan 3.
2018
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9 | NR1H3, OSBPL2
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| Oxysterol-related-binding-protein related Protein-2 (ORP2) regulates cortisol biosynthesis and cholesterol homeostasis.
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| Escajadillo T, Wang H, Li L, Li D, Sewer MB.
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| Mol Cell Endocrinol 427:73-85. doi: 10.1016/j.mce.2016.03.006. Epub 2016 Mar 16.
2016
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10 | DFNA67, OSBPL2
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| OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
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| 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.
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| Orphanet J Rare Dis 10:15. doi: 10.1186/s13023-015-0238-5.
2015
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11 | DFNA67, OSBPL2
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| Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.
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| Xing G, Yao J, Wu B, Liu T, Wei Q, Liu C, Lu Y, Chen Z, Zheng H, Yang X, Cao X.
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| Genet Med 17(3):210-8. doi: 10.1038/gim.2014.90. Epub 2014 Jul 31.
2015
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12 | OSBPL2
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| OSBP-related protein 2 is a sterol receptor on lipid droplets that regulates the metabolism of neutral lipids.
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| Hynynen R, Suchanek M, Spandl J, Bäck N, Thiele C, Olkkonen VM.
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| J Lipid Res 50(7):1305-15. doi: 10.1194/jlr.M800661-JLR200. Epub 2009 Feb 17.
2009
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13 | OSBPL2
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| Overexpression of OSBP-related protein 2 (ORP2) induces changes in cellular cholesterol metabolism and enhances endocytosis.
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| Hynynen R, Laitinen S, Kakela R, Tanhuanpaa K, Lusa S, Ehnholm C, Somerharju P, Ikonen E, Olkkonen VM.
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| Biochem J 390(Pt 1):273-83. 2005
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14 | OSBPL2
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| ORP2, a homolog of oxysterol binding protein, regulates cellular cholesterol metabolism.
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| Laitinen S, Lehto M, Lehtonen S, Hyvarinen K, Heino S, Lehtonen E, Ehnholm C, Ikonen E, Olkkonen VM.
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| J Lipid Res 43(2):245-55. 2002
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15 | OSBP, OSBP2, OSBPL11, OSBPL2, OSBPL3, OSBPL5, OSBPL6, OSBPL8
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| The OSBP-related protein family in humans.
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| Lehto M, Laitinen S, Chinetti G, Johansson M, Ehnholm C, Staels B, Ikonen E, Olkkonen VM.
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| J Lipid Res 42(8):1203-13. 2001
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16 | OSBPL6, OSBP, OSBP2, OSBPL2, OSBPL3
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| Novel members of the human oxysterol-binding protein family bind phospholipids and regulate vesicle transport.
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| Xu Y, Liu Y, Ridgway ND, McMaster CR.
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| J Biol Chem 276(21):18407-14. 2001
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17 | OSBP, OSBP2, OSBPL2, OSBPL3, OSBPL5, OSBPL6, OSBPL8
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| Family of human oxysterol binding protein (OSBP) homologues. A novel member implicated in brain sterol metabolism.
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| Laitinen S, Olkkonen VM, Ehnholm C, Ikonen E.
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| J Lipid Res 40(12):2204-11. 1999
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18 | ADGRL2, ADGRL3, ADNP, AKAP9, ANGEL1, ARHGAP32, ATP10B, ATP1A2, BAG5, BAIAP3, CAMKK2, CLCC1, CLSTN3, DDHD2, DDN, DDX46, DDX46, DGKB, DIP, DOCK4, DST, EIF5B, EPM2AIP1, FAM131B, FAM153A, FARP2, FCHSD2, GPR116, HDAC9, IPO13, KBTBD11, KIAA0748, KIAA0753, KIAA0754, KIAA0802, KLHL18, LARP1, LRIG2, MAST2, MTUS2, MYO10, MYO1D, NFASC, NRXN3, NUP155, OSBPL2, PCNX, PHF14, PPP1R13B, RAD54L2, RBM12, RHOBTB1, RHOBTB2, RIMS2, SACS, SASH1, SEC24A, SEC24B, SEC24C, SEC24D, SENP6, SLC4A8, SNRNP200, SNX13, SORBS2, SPATA2, SPON1, SUPT7L, SV2A, SV2B, SYNE1, TBKBP1, TCAF1, TMCC1, TMEM63A, TOMM70A, TSPYL4, UBXN7, ULK1, USP34, VPRBP, VPS39, VPS8, WSCD2, XPO7, ZBED1, ZBED1Y, ZNF294, ZNF423, ZNF432
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| Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
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| DNA Res 5(5):277-86. 1998
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