Protein Analysis of the TGFBIR124H Mouse Model Gives Insight into Phenotype Development of Granular Corneal Dystrophy.
Marie V LukassenEbbe T PoulsenJack DonaghyEmilie H MogensenKathleen A ChristieHila RoshanravanLarry DeDionisoM Andrew NesbitTara MooreJan J EnghildPublished in: Proteomics. Clinical applications (2020)
It is proposed that the lowered expression level of mutant TGFBIp protein relative to WT protein is the direct cause of the missing development of corneal deposits in the mouse. The overall protein profiles of the corneas are not impacted by the reduced amount of TGFBIp. Altogether, this supports a partial reduction in mutated TGFBIp as a potential treatment strategy for GCD2.