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Seattle, WA, United States

Hudson D.M.,Rfseq 1University of Washington | Joeng K.S.,Baylor College of Medicine | Werther R.,Rfseq 1University of Washington | Rajagopal A.,Baylor College of Medicine | And 3 more authors.
Journal of Biological Chemistry | Year: 2015

Background: Mutations in LEPREL1, the gene encoding prolyl 3-hydroxylase-2 (P3H2), cause severe nonsyndromic myopia. Results: Collagens I and IV from P3h2-null mouse eye tissues were significantly reduced in 3-hydroxylation compared with wild-type littermates. Conclusion: Loss of P3h2 causes altered collagen prolyl 3-hydroxylation from multiple tissues. Significance: Improved understanding of molecular mechanisms of myopia could aid in early diagnosis and treatment of irreversible vision loss. © 2015 by The American Society for Biochemistry and Molecular Biology, Inc.

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