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ba0005op14 | Pre-Clinical | ECTS2016

Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome

Willaert Andy , Ghistelinck Charlotte , Witten P Eckhard , Huysseune Ann , Simoens Pascal , Symoens Sofie , Malfait Fransiska , De Muynck Amelie , De Paepe Anne , Kwon Ronald Y , Weiss Mary Ann , Eyre David E , Coucke Paul

see P483....
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ba0005p483 | Paediatric bone disease | ECTS2016

Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome

Willaert Andy , Ghistelinck Charlotte , Witten P Eckhard , Huysseune Ann , Simoens Pascal , Symoens Sofie , Malfait Fransiska , De Muynck Amelie , De Paepe Anne , Kwon Ronald Y , Weiss Mary Ann , Eyre David E , Coucke Paul

Bruck syndrome, a disorder caused by bi-allelic mutations in either PLOD2 or FKBP10, is characterized by flexion contractures and bone fractures and shows strong clinical overlap with the brittle bone disease Osteogenesis Imperfecta. PLOD2 encodes the Lysyl hydroxylase 2 (LH2) enzyme, which is responsible for the hydroxylation of lysine residues in the type-I collagen telopeptides. This hydroxylation directs cross-linking of the collagen fibrils in t...
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Bone Abstracts
ISSN 2052-1219 (online)
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