ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release
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- 25 November 2013
- journal article
- research article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences of the United States of America
- Vol. 110 (50), 20206-20211
- https://doi.org/10.1073/pnas.1319582110
Abstract
Pseudoxanthoma elasticum (PXE) is a heritable disease characterized by mineralization of the skin, eyes, and arteries, for which no effective treatment exists. PXE is caused by inactivating mutations in the gene encoding the transporter ABCC6. PXE is a metabolic disease caused by the absence of an unknown factor in the circulation. Our study indicates that the factor that normally prevents PXE is pyrophosphate, which is provided to the circulation in the form of nucleoside triphosphates via an ABCC6-dependent mechanism. Our findings provide leads for the treatment of this intractable disease.Keywords
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