Article
Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver.
PloS one - 1 Jan 2011
Le Saux Olivier, Fülöp Krisztina, Yamaguchi Yukiko, Iliás Attila, Szabó Zalán, Brampton Christopher N, Pomozi Viola, Huszár Krisztina, Arányi Tamás, Váradi András
Abstract excerpt
Loss-of-function mutations in ABCC6 can cause chronic or acute forms of dystrophic mineralization described in disease models such as pseudoxanthoma elasticum (OMIM 26480) in human and dystrophic cardiac calcification in mice. The ABCC6 protein is a large membrane-embedded organic anion transporter primarily found in the plasma membrane of hepatocytes. We have established a complex experimental strategy to...
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