Mice Deficient in TAZ (Wwtr1) Demonstrate Clinical Features of Late-Onset Fuchs' Endothelial Corneal Dystrophy.

Brian C Leonard,Sangwan Park,Soohyun Kim,Laura J Young,Iman Jalilian,Krista Cosert,Xunzhi Zhang,Jessica M Skeie,Hanna Shevalye,Nayeli Echeverria,Vanessa Rozo,Xin Gong,Chao Xing,Christopher J Murphy,Mark A Greiner,V Vinod Mootha,Vijay Krishna Raghunathan,Sara M Thomasy

Investigative ophthalmology & visual science（2023）

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摘要

There are common phenotypic abnormalities seen between Wwtr1 deficient and FECD-affected patients, suggesting that Wwtr1 deficient mice could function as a murine model of late-onset FECD. Despite the lack of a genetic association between FECD and WWTR1, aberrant WWTR1/TAZ protein subcellular localization and degradation may play critical roles in the pathogenesis of FECD.

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关键词

taz,late-onset

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