PLOD3

Publications

Ewans et al. Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.  J Med Genet. 2019;56(9):629-638. PMID: 31129566.

Salo AM et al. A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. Am J Hum Genet 2008;83:495–503. PMID: 18834968.

Scietti L et al. Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3. Nat Commun. 2018;9(1):3163. PMID: 30089812.

Scietti L et al. SiMPLOD, a structure-integrated database of collagen lysyl hydroxylase (LH/PLOD) enzyme variants. J Bone Miner Res. 2019;34(7):1376-1382. doi: 10.1002/jbmr.3692. Epub 2019 Mar 12.

Vahidnezhad H et al. Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency. Matrix Biol. 2019;81:91-106. PMID: 30463024.