Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome.

doi:10.1016/j.exer.2016.03.013

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Article

Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome.

Experimental eye research - 1 May 2016

Sharma Shiwani, Martin Sarah, Sykes Matthew J, Dave Alpana, Hewitt Alex W, Burdon Kathryn P, Ronci Maurizio, Voelcker Nicolas H, Craig Jamie E

Abstract excerpt

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...

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Identifiers

PMID: 26997634
DOI: 10.1016/j.exer.2016.03.013

Genes

LOXL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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