Evidence that all Sorsby's fundus dystrophy mutations cause TIMP3 dimerization resulting in impaired inhibition of VEGFR2.
作者信息
Alsaffar Fatimah A, Mujamammi Ahmed H, Aldughaim Mohammed S K, Nicklin Martin J H, Barker Michael D
机构信息
Department of Oncology & Metabolism, University of Sheffield Medical School, Sheffield S10 2RX, UK.
Department of Infection Immunity & Cardiovascular Disease, University of Sheffield Medical School, Sheffield S10 2RX, UK.
出版信息
Genes Dis. 2022 Apr 12;10(1):45-47. doi: 10.1016/j.gendis.2022.03.008. eCollection 2023 Jan.
Abstract
摘要
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Evidence that all Sorsby's fundus dystrophy mutations cause TIMP3 dimerization resulting in impaired inhibition of VEGFR2.所有索斯比眼底营养不良突变导致TIMP3二聚化，从而损害对VEGFR2的抑制作用的证据。
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本文引用的文献
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The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.导致 Sorsby 眼底营养不良的 TIMP3 基因突变位于 N 端 p.(Ser38Cys)，是一种破坏分子内二硫键的创始突变。
Hum Mutat. 2019 May;40(5):539-551. doi: 10.1002/humu.23713. Epub 2019 Feb 6.
2
Tissue inhibitor of metalloproteinases-3 peptides inhibit angiogenesis and choroidal neovascularization in mice.基质金属蛋白酶组织抑制因子-3 肽抑制小鼠的血管生成和脉络膜新生血管形成。
PLoS One. 2013;8(3):e55667. doi: 10.1371/journal.pone.0055667. Epub 2013 Mar 1.
3
4
A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy.TIMP3基因中一种新的His158Arg突变导致迟发型索斯比眼底营养不良。
Am J Ophthalmol. 2006 Nov;142(5):839-48. doi: 10.1016/j.ajo.2006.06.003. Epub 2006 Sep 20.
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A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy.一种新型金属蛋白酶组织抑制剂-3突变揭示了索斯比眼底营养不良的常见分子表型。
J Biol Chem. 2000 Sep 1;275(35):27027-31. doi: 10.1074/jbc.M909677199.
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