| Molecular pathology of pseudoexfoliation syndrome/glaucoma--new insights from LOXL1 gene associations. | |
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MedLine Citation:
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PMID: 18809397 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Pseudoexfoliation (PEX) syndrome is a generalized disease of the extracellular matrix and a major cause of severe open-angle glaucoma. Single nucleotide polymorphisms (SNPs) in exon 1 of the lysyl oxidase-like 1 (LOXL1) gene have been recently identified as strong genetic risk factors for both PEX syndrome and PEX glaucoma. LOXL1 is a pivotal cross-linking enzyme in extracellular matrix metabolism and seems to be specifically required for elastic fiber formation and stabilization. This review outlines our current understanding of the role of LOXL1 in the pathophysiology of PEX syndrome and PEX glaucoma. The available data suggest that LOXL1 is differentially regulated dependent on the phase of progression of the fibrotic process. While increased levels of LOXL1 participate in the formation of abnormal PEX fiber aggregates in the initial phase of fibrogenesis, inadequate tissue levels may promote elastotic processes in advanced stages of the disease. Although the functional significance of LOXL1 in the specific PEX-associated matrix process still has to be determined, elucidation of the underlying molecular pathogenesis has been evolving, and might eventually open new approaches for specific treatment strategies in the future. |
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Authors:
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Ursula Schlötzer-Schrehardt |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2008-09-06 |
Journal Detail:
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Title: Experimental eye research Volume: 88 ISSN: 1096-0007 ISO Abbreviation: Exp. Eye Res. Publication Date: 2009 Apr |
Date Detail:
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Created Date: 2009-04-20 Completed Date: 2009-06-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0370707 Medline TA: Exp Eye Res Country: England |
Other Details:
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Languages: eng Pagination: 776-85 Citation Subset: IM |
Affiliation:
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Department of Ophthalmology, University of Erlangen-Nürnberg, Erlangen, Germany. Ursula.schloetzer-schrehardt@uk-erlangen.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Oxidoreductases
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genetics*,
physiology Exfoliation Syndrome / genetics*, pathology, physiopathology Genetic Predisposition to Disease Glaucoma, Open-Angle / genetics, pathology, physiopathology Humans Polymorphism, Single Nucleotide Trabecular Meshwork / ultrastructure |
| Chemical | |
Reg. No./Substance:
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EC 1.4.-/Amino Acid Oxidoreductases; EC 1.4.3.-/LOXL1 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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