Article
Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations.
The Journal of biological chemistry - 27 Mar 2015
Hudson David M, Joeng Kyu Sang, Werther Rachel, Rajagopal Abbhirami, Weis MaryAnn, Lee Brendan H, Eyre David R
Abstract excerpt
Myopia, the leading cause of visual impairment worldwide, results from an increase in the axial length of the eyeball. Mutations in LEPREL1, the gene encoding prolyl 3-hydroxylase-2 (P3H2), have recently been identified in individuals with recessively inherited nonsyndromic severe myopia. P3H2 is a member of a family of genes that includes three isoenzymes of prolyl 3-hydroxylase (P3H), P3H1, P3H2, and P3H3....
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