Evidence that all Sorsby's fundus dystrophy mutations cause TIMP3 dimerization resulting in impaired inhibition of VEGFR2

作     者：Fatimah A.Alsaffar Ahmed H.Mujamammi Mohammed S.K.Aldughaim Martin J.H.Nicklin Michael D.Barker Fatimah A.Alsaffar;Ahmed H.Mujamammi;Mohammed S.K.Aldughaim;Martin J.H.Nicklin;Michael D.Barker

作者机构：Department of Oncology&MetabolismUniversity of Sheffield Medical SchoolSheffield S102RXUK Department of Infection Immunity&Cardiovascular DiseaseUniversity of Sheffield Medical SchoolSheffield S102RXUK 

出 版 物：《Genes & Diseases》 (基因与疾病（英文）)

年 卷 期：2023年第10卷第1期

页      面：45-47页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 100212[医学-眼科学] 10[医学] 

基　　金：Saudi Arabian Cultral Bureau in London 

主　　题：TIMP3 VEGFR2 impaired 

摘      要：Tissue inhibitor of metalloproteinases 3(TIMP3)regulates turnover of the extracellular matrix(ECM)and is also a potent inhibitor of the vascular endothelial growth factor receptor 2(VEGFR2),a key mediator of *** in TIMP3 give rise to Sorsby s fundus dystrophy(SFD),a dominantly inherited degenerative disease of the retina that leads to blindness,usually in middle age.