Associated Papers
Identification of Regulatory Molecular "Hot Spots" for LH/PLOD Collagen Glycosyltransferase Activity.
Mattoteia D et al.
International Journal of Molecular Sciences, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV).
Ishikawa Y et al.
The Journal of Biological Chemistry, 2022
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
Ewans LJ et al.
Journal of Medical Genetics, 2019
SiMPLOD, a Structure-Integrated Database of Collagen Lysyl Hydroxylase (LH/PLOD) Enzyme Variants.
Scietti L et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019
Loss of function of Colgalt1 disrupts collagen post-translational modification and causes musculoskeletal defects.
Geister KA et al.
Disease Models & Mechanisms, 2019
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3.
Scietti L et al.
Nature Communications, 2018
A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.
Salo AM et al.
American Journal of Human Genetics, 2008