Article
ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.
Proceedings of the National Academy of Sciences of the United States of America - 10 Dec 2013
Jansen Robert S, Küçükosmanoglu Aslı, de Haas Marcel, Sapthu Sunny, Otero Jon Andoni, Hegman Ilse E M, Bergen Arthur A B, Gorgels Theo G M F, Borst P, van de Wetering Koen
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease characterized by progressive ectopic mineralization of the skin, eyes, and arteries, for which no effective treatment exists. PXE is caused by inactivating mutations in the gene encoding ATP-binding cassette sub-family C member 6 (ABCC6), an ATP-dependent efflux transporter present mainly in the liver. Abcc6(-/-) mice have been instrumental in...
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