[HTML][HTML] Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 …
DM Hudson, KS Joeng, R Werther, A Rajagopal… - Journal of Biological …, 2015 - ASBMB
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. Fundamentally, it is understood that
P3H1 is responsible for converting proline to 3-hydroxyproline. This limited additional …
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. Fundamentally, it is understood that
P3H1 is responsible for converting proline to 3-hydroxyproline. This limited additional …