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- W2113307617 endingPage "20211" @default.
- W2113307617 startingPage "20206" @default.
- W2113307617 abstract "Significance 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." @default.
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- W2113307617 date "2013-11-25" @default.
- W2113307617 modified "2023-10-18" @default.
- W2113307617 title "ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release" @default.
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- W2113307617 doi "https://doi.org/10.1073/pnas.1319582110" @default.
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