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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.

DOI:10.1016/j.gendis.2022.03.008
PMID:37013036
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10066326/
Abstract
摘要

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1
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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2
Sorsby's fundus dystrophy: what does TIMP3 tell us about general mechanisms underlying macular degeneration?索斯比眼底营养不良：TIMP3能告诉我们关于黄斑变性潜在一般机制的哪些信息？
Clin Exp Optom. 1999 Jul-Aug;82(4):124-129. doi: 10.1111/j.1444-0938.1999.tb06789.x.
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TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights.索斯比眼底营养不良中的TIMP3突变：分子见解
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A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.在索斯比眼底营养不良中金属蛋白酶组织抑制剂-3（TIMP3）的第二个独立的Tyr168Cys突变。
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Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies.
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Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation.弹性假黄瘤-遗传学、病理生理学和临床表现。
Prog Retin Eye Res. 2024 Sep;102:101274. doi: 10.1016/j.preteyeres.2024.101274. Epub 2024 May 28.
2
Review: Mechanisms of TIMP-3 accumulation and pathogenesis in Sorsby fundus dystrophy.综述：Sorsby 眼底营养不良中 TIMP-3 积累的机制和发病机制。
Mol Vis. 2024 Mar 3;30:74-91. eCollection 2024.

本文引用的文献

1
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
Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy.与索斯比眼底营养不良相关的TIMP3基因E139K错义突变的临床和生化效应。
Mol Vis. 2009 Jun 15;15:1218-30.
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.
5
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.