Review: The role of LOXL1 in exfoliation syndrome/glaucoma
TLDR
It now appears the strong association between LOXL1 and XFS is due to non-coding variants that have not yet been identified, which might alter LO XL1 expression, which is decreased in the late stages of exfoliation syndrome/glaucoma.About:
This article is published in Saudi Journal of Ophthalmology.The article was published on 2011-10-01 and is currently open access. It has received 20 citations till now. The article focuses on the topics: Population.read more
Citations
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Journal ArticleDOI
Exfoliation syndrome: a disease with an environmental component.
TL;DR: A greater understanding of the environmental components associated with XFS may lead to lifestyle preventive strategies to ameliorate disease burden.
Journal ArticleDOI
Autophagy and Mitochondrial Dysfunction in Tenon Fibroblasts from Exfoliation Glaucoma Patients
Andrew Want,Stephanie Gillespie,Zheng Wang,Ronald E. Gordon,Carlo Iomini,Robert Ritch,J. Mario Wolosin,Audrey M. Bernstein +7 more
TL;DR: In this paper, the authors test the hypothesis that autophagy dysfunction is involved in exfoliation syndrome (XFS), a systemic disorder of extracellular elastic matrices that causes a distinct form of human glaucoma.
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Risk for Exfoliation Syndrome in Women With Pelvic Organ Prolapse : A Utah Project on Exfoliation Syndrome (UPEXS) Study.
Barbara M Wirostko,Karen Curtin,Robert Ritch,Scott Thomas,Kristina Allen-Brady,Ken R. Smith,Gregory S. Hageman,R. Rand Allingham,R. Rand Allingham +8 more
TL;DR: The diagnosis of exfoliation syndrome was more frequent in women with pelvic organ prolapse in the Utah Population Database, a robust population-based resource, thus supporting an association of ex foliation syndrome with a nonocular systemic condition.
Journal ArticleDOI
LOXL1 Gene Polymorphism With Exfoliation Syndrome/Exfoliation Glaucoma: A Meta-Analysis.
TL;DR: A meta-analysis of the associations between lysyl oxidase-like 1 gene polymorphism and the susceptibility to exfoliation syndrome (XFS)/exfoliation glaucoma (XFG) indicates that rs1048661 had weak association with XFG/XFS; rs3825942 (“G” alleles) had strongly association withXFG/ XFS; and rs2165241 had significant risk with XFS in some ethnicity.
Journal Article
Autophagy and Mitochondrial Dysfunction in Tenon Fibroblasts from Exfoliation Glaucoma Patients
J. Mario Wolosin,Andrew Want,Stephanie Gillespie,Zheng Wang,Robert Ritch,Audrey M. Bernstein +5 more
TL;DR: A link between XFS pathology to autophagy dysfunction, a major contributor to multiple age related diseases systemically throughout the body, in the brain and in the retina, is provided for the first time.
References
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Journal ArticleDOI
Lysyl oxidase: Properties, specificity, and biological roles inside and outside of the cell
TL;DR: Although the three‐dimensional structure of LO has yet to be determined, the present treatise offers hypotheses based upon its primary sequence, which may underlie the prominent electrostatic component of its unusual substrate specificity as well as the catalysis‐suppressing function of the propeptide domain of prolysyl oxidase.
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Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Gudmar Thorleifsson,Kristinn P. Magnusson,Patrick Sulem,G. Bragi Walters,Daniel F. Gudbjartsson,Hreinn Stefansson,Thorlakur Jonsson,Adalbjorg Jonasdottir,Aslaug Jonasdottir,Gerdur Stefansdottir,Gisli Masson,Gudmundur A. Hardarson,H. Petursson,Arsaell Arnarsson,Mehdi Motallebipour,Ola Wallerman,Claes Wadelius,Jeffrey R. Gulcher,Unnur Thorsteinsdottir,Augustine Kong,Fridbert Jonasson,Kari Stefansson +21 more
TL;DR: Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association with glaucoma, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS).
Journal ArticleDOI
Elastic fiber homeostasis requires lysyl oxidase-like 1 protein.
Xiao-Qing Liu,Yun Zhao,Jiangang Gao,Basil S. Pawlyk,Barry Starcher,Jeffrey A. Spencer,Hiromi Yanagisawa,J. Zuo,Tiansen Li +8 more
TL;DR: It is shown that mice lacking the protein lysyl oxidase–like 1 (LOXL1) do not deposit normal elastic fibers in the uterine tract post partum and develop pelvic organ prolapse, enlarged airspaces of the lung, loose skin and vascular abnormalities with concomitant tropoelastin accumulation.
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Ocular and Systemic Pseudoexfoliation Syndrome
TL;DR: In this paper, the authors provide an update on most recent developments regarding ocular and systemic manifestations and complications, clinical diagnosis and management, and molecular pathophysiology of pseudoexfoliation (PEX) syndrome, and discuss future tasks and challenges in this field.
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Alternative splicing and disease.
TL;DR: Well-studied examples that show how a disturbance of a fine-tuned balance of factors regulates splice site selection can cause human disease are discussed.
Related Papers (5)
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Gudmar Thorleifsson,Kristinn P. Magnusson,Patrick Sulem,G. Bragi Walters,Daniel F. Gudbjartsson,Hreinn Stefansson,Thorlakur Jonsson,Adalbjorg Jonasdottir,Aslaug Jonasdottir,Gerdur Stefansdottir,Gisli Masson,Gudmundur A. Hardarson,H. Petursson,Arsaell Arnarsson,Mehdi Motallebipour,Ola Wallerman,Claes Wadelius,Jeffrey R. Gulcher,Unnur Thorsteinsdottir,Augustine Kong,Fridbert Jonasson,Kari Stefansson +21 more