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Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome.

Exp. Eye Res.. 2016; 
SharmaShiwani,MartinSarah,SykesMatthew J,DaveAlpana,HewittAlex W,BurdonKathryn P,RonciMaurizio,VoelckerNicolas H,CraigJam
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摘要

Pseudoexfoliation (PEX) syndrome is a systemic disease involving the extracellular matrix. It increases the risk of glaucoma, an irreversible cause of blindness, and susceptibility to heart disease, stroke and hearing loss. Single nucleotide polymorphisms (SNPs) in the LOXL1 (Lysyl oxidase-like 1) gene are the major known genetic risk factor for PEX syndrome. Two coding SNPs, rs1048861 (G > T; Arg141Leu) and rs3825942 (G > A; Gly153Asp), in the LOXL1 gene are strongly associated with the disease risk in multiple populations worldwide. In the present study, we investigated functional effects of these SNPs on the LOXL1 protein. We show through molecular modelling that positions 141 and 153 are lik... More

关键词

Biological effect of risk variants,Ectopic expression,Immunolabelling,Immunoprecipitation,LOXL1,Protein accumulation,Protein processing,Pseudoexfoliation synd