Genotype-Correlated Expression of Lysyl Oxidase-Like 1 in Ocular Tissues of Patients with Pseudoexfoliation Syndrome/Glaucoma and Normal Patients
Ursula Schlötzer-Schrehardt,Francesca Pasutto,Pascal Sommer,Ian Hornstra,Friedrich E. Kruse,Gottfried O. H. Naumann,André Reis,Matthias Zenkel +7 more
TLDR
Findings provide evidence for LOXL1 involvement in the initial stages of abnormal fibrogenesis in PEX tissues and suggest Alterations ofLOXL1 activation, processing, and/or substrate specificity may contribute to the abnormal aggregation of elastic fiber components into characteristic PEX fibrils.Citations
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The rationale for targeting the LOX family in cancer.
TL;DR: The roles of members of the lysyl oxidase (LOX) family in the remodelling of the tumour microenvironment and their paradoxical roles in tumorigenesis and metastasis are discussed.
Journal ArticleDOI
Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma.
TL;DR: This review summarizes the current literature on trabecular ECM as well as the development and function of the TM and the growing number of mutations that have been identified in ECM genes and genes that modulate ECM in humans with glaucoma are documented.
Journal ArticleDOI
Transcriptome analysis and molecular signature of human retinal pigment epithelium
N.V. Strunnikova,Arvydas Maminishkis,Jennifer J. Barb,F. Wang,C. Zhi,Yuri V. Sergeev,Wei Chen,Albert O. Edwards,Dwight Stambolian,Gonçalo R. Abecasis,Anand Swaroop,Peter J. Munson,Sheldon S. Miller +12 more
TL;DR: The RPE signature gene set should allow the validation of RPE-like cells derived from human embryonic or induced pluripotent stem cells for cell-based therapies of degenerative retinal diseases and for physiological investigations (e.g. dopachrome tautomerase in melanogenesis).
Journal ArticleDOI
Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma
Francesca Pasutto,Tomoya Matsumoto,Christian Y. Mardin,Heinrich Sticht,Johann Helmut Brandstätter,Karin Michels-Rautenstrauss,Nicole Weisschuh,Eugen Gramer,Wishal D. Ramdas,Leonieke M E van Koolwijk,Caroline C W Klaver,Johannes R. Vingerling,Bernhard H. F. Weber,Friedrich E. Kruse,Bernd Rautenstrauss,Yves-Alain Barde,André Reis +16 more
TL;DR: expression of recombinant NT-4 carrying the most frequent mutation was demonstrated to lead to decreased activation of TrkB, suggesting a pathway in the pathophysiology of glaucoma through loss of neurotrophic function and may eventually open the possibility of using ligands activating TrkB to prevent the progression of the disease.
Journal ArticleDOI
Proinflammatory Cytokines Are Involved in the Initiation of the Abnormal Matrix Process in Pseudoexfoliation Syndrome/Glaucoma
Matthias Zenkel,Piotr Lewczuk,Anselm Jünemann,Friedrich E. Kruse,Gottfried O. H. Naumann,Ursula Schlötzer-Schrehardt +5 more
TL;DR: Findings support a role for a stress-induced, spatially, and temporally restricted subclinical inflammation in the onset of the fibrotic matrix process characteristic of PEX syndrome/glaucoma.
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.
Journal ArticleDOI
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.
Journal ArticleDOI
Lysyl oxidase: Properties, regulation and multiple functions in biology
Lynda I. Smith-Mungo,H. Kagan +1 more
TL;DR: Lysyl oxidase is a copper-dependent amine oxidase that plays a critical role in the biogenesis of connective tissue matrices by crosslinking the extracellular matrix proteins, collagen and elastin.
Journal ArticleDOI
Lysyl oxidase: an oxidative enzyme and effector of cell function.
Hector A. Lucero,H. Kagan +1 more
TL;DR: In addition to elastin and collagen, LOX can oxidize lysine within a variety of cationic proteins, suggesting that its functions extend beyond its role in the stabilization of the extracellular matrix.
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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