Citations for
Further phenotypic characterization of LEPREL1-related ectopia lentis.
Khan AO.
Ophthalmic Genet phthalmic Genet. 2019 Jan 4:1-3. doi: 10.1080/13816810.2018.1563618. [Epub ahead of print] No abstract available. 2019
2CRTAP, P3H1, P3H2, P3H3, P3H4
Expression characterization and functional implication of the collagen-modifying Leprecan proteins in mouse gonadal tissue and mature sperm.
Zimmerman SM, Besio R, Heard-Lipsmeyer ME, Dimori M, Castagnola P, Swain FL, Gaddy D, Diekman AB, Morello R.
AIMS Genet 5(1):24-40. doi: 10.3934/genet.2018.1.24. Epub 2018 Feb 7. 2018
3P3H1, P3H2, P3H3, P3H4
P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA.
Hudson DM, Weis M, Rai J, Joeng KS, Dimori M, Lee BH, Morello R, Eyre DR.
J Biol Chem 292(9):3877-3887. doi: 10.1074/jbc.M116.762245. Epub 2017 Jan 23. 2017
Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.
Khan AO, Aldahmesh MA, Alsharif H, Alkuraya FS.
Ophthalmic Genet 36(1):58-63. doi: 10.3109/13816810.2014.985847. Epub 2014 Dec 3. 2015
5P3H1, P3H2
Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations.
Hudson DM, Joeng KS, Werther R, Rajagopal A, Weis M, Lee BH, Eyre DR.
J Biol Chem 290(13):8613-22. doi: 10.1074/jbc.M114.634915. Epub 2015 Feb 2. 2015
6CRTAP, P3H1, P3H2, P3H3, P3H4
Sc65 is a novel endoplasmic reticulum protein that regulates bone mass homeostasis.
Gruenwald K, Castagnola P, Besio R, Dimori M, Chen Y, Akel NS, Swain FL, Skinner RA, Eyre DR, Gaddy D, Suva LJ, Morello R.
J Bone Miner Res 29(3):666-75. doi: 10.1002/jbmr.2075. 2014
Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.
Guo H, Tong P, Peng Y, Wang T, Liu Y, Chen J, Li Y, Tian Q, Hu Y, Zheng Y, Xiao L, Xiong W, Pan Q, Hu Z, Xia K.
Clin Genet 86(6):575-9. doi: 10.1111/cge.12309. Epub 2013 Nov 26. 2014
8P3H1, P3H2, P3H3
Biological role of prolyl 3-hydroxylation in type IV collagen.
Pokidysheva E, Boudko S, Vranka J, Zientek K, Maddox K, Moser M, Fässler R, Ware J, Bächinger HP.
Proc Natl Acad Sci U S A 111(1):161-6. doi: 10.1073/pnas.1307597111. Epub 2013 Dec 24. 2014
9CRTAP, P3H1, P3H2, P3H3
An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1·cartilage-associated protein·cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro.
Ishikawa Y, Bächinger HP.
J Biol Chem 288(44):31437-46. doi: 10.1074/jbc.M113.498063. Epub 2013 Sep 16. 2013
LEPREL1 Expression in Human Hepatocellular Carcinoma and Its Suppressor Role on Cell Proliferation.
Wang J, Xu X, Liu Z, Wei X, Zhuang R, Lu D, Zhou L, Xie H, Zheng S.
Gastroenterol Res Pract 2013:109759. doi: 10.1155/2013/109759. Epub 2013 Nov 11. 2013
11MCVD, P3H2
High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.
Mordechai S, Gradstein L, Pasanen A, Ofir R, El Amour K, Levy J, Belfair N, Lifshitz T, Joshua S, Narkis G, Elbedour K, Myllyharju J, Birk OS.
Am J Hum Genet 89(3):438-45. doi: 10.1016/j.ajhg.2011.08.003. Epub 2011 Sep 1. 2011
A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens.
Fernandes RJ, Farnand AW, Traeger GR, Weis MA, Eyre DR.
J Biol Chem 286(35):30662-9. doi: 10.1074/jbc.M111.267906. Epub 2011 Jul 11. 2011
13P3H2, P3H3
The prolyl 3-hydroxylases P3H2 and P3H3 are novel targets for epigenetic silencing in breast cancer.
Shah R, Smith P, Purdie C, Quinlan P, Baker L, Aman P, Thompson AM, Crook T.
Br J Cancer 100(10):1687-96. doi: 10.1038/sj.bjc.6605042. 2009
14P3H1, P3H2, P3H3
Expression of prolyl 3-hydroxylase genes in embryonic and adult mouse tissues.
Vranka J, Stadler HS, Bächinger HP.
Cell Struct Funct 34(2):97-104. Epub 2009 Aug 1. 2009
Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV.
Tiainen P, Pasanen A, Sormunen R, Myllyharju J.
J Biol Chem 283(28):19432-9. doi: 10.1074/jbc.M802973200. Epub 2008 May 15. 2008