Possible role of overglycosylation in the type I collagen triple helical domain in the molecular pathogenesis of osteogenesis imperfecta

American Journal of Medical Genetics
R TenniG Cetta

Abstract

The underlying defect in patients affected by a form of osteogenesis imperfecta (OI) clarified at the molecular level regards the amount or the structure of type I collagen synthesized. This leads to a decreased and/or abnormal mineral deposition in bone and affects bone mass and/or strength. Abnormal interactions between collagen molecules in the presence of mutant trimers could give rise to abnormal fibrils, which, in turn, can determine incorrect interactions with noncollagenous matrix macromolecules. The interactions can be disturbed or modulated by an abnormal distribution on the collagen fibril surface of electrically charged or hydrophobic groups, or by an increased presence of sugar moieties linked to hydroxylysyl residues due to chain post-translational overmodifications (lysyl overhydroxylation and hydroxylysyl overglycosylation) of the portion of the triple helical domain of abnormal type I collagen molecules N-terminal with respect to the defect localization.

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Citations

May 2, 2013·Journal of the American Society for Mass Spectrometry·Irina PerdivaraKenneth B Tomer
Jan 12, 2011·The Journal of Biological Chemistry·Marnisa SricholpechMitsuo Yamauchi
Jan 17, 2012·Molecular & Cellular Proteomics : MCP·Yuki TagaShunji Hattori
Oct 15, 2014·Journal of Prosthodontic Research·Masaru Kaku, Mitsuo Yamauchi
Jun 20, 2012·Essays in Biochemistry·Mitsuo Yamauchi, Marnisa Sricholpech
May 11, 2012·The Journal of Biological Chemistry·Marnisa SricholpechMitsuo Yamauchi
Jul 18, 2013·Australian Journal of Chemistry·Irina PerdivaraKenneth B Tomer
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