Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver.

Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver.

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...

Full description

Bibliographic Details
Main Authors: Olivier Le Saux, Krisztina Fülöp, Yukiko Yamaguchi, Attila Iliás, Zalán Szabó, Christopher N Brampton, Viola Pomozi, Krisztina Huszár, Tamás Arányi, András Váradi
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3173462?pdf=render

Internet

http://europepmc.org/articles/PMC3173462?pdf=render

Similar Items