Title |
Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum
|
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Published in |
Orphanet Journal of Rare Diseases, April 2014
|
DOI | 10.1186/1750-1172-9-66 |
Pubmed ID | |
Authors |
Mohammad J Hosen, Paul J Coucke, Olivier Le Saux, Anne De Paepe, Olivier M Vanakker |
Abstract |
Pseudoxanthoma elasticum (PXE) is characterized by skin (papular lesions), ocular (subretinal neovascularisation) and cardiovascular manifestations (peripheral artery disease), due to mineralization and fragmentation of elastic fibres in the extracellular matrix (ECM). Caused by mutations in the ABCC6 gene, the mechanisms underlying this disease remain unknown. The knowledge on the molecular background of soft tissue mineralization largely comes from insights in vascular calcification, with involvement of the osteoinductive Transforming Growth Factor beta (TGFβ) family (TGFβ1-3 and Bone Morphogenetic Proteins [BMP]), together with ectonucleotides (ENPP1), Wnt signalling and a variety of local and systemic calcification inhibitors. In this study, we have investigated the relevance of the signalling pathways described in vascular soft tissue mineralization in the PXE knock-out mouse model and in PXE patients. |
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