Article
Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro.
The Journal of investigative dermatology - 1 Jul 2006
Le Saux Olivier, Bunda Severa, VanWart Christopher M, Douet Vanessa, Got Laurence, Martin Ludovic, Hinek Aleksander
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is a heritable disorder mainly characterized by calcified elastic fibers in cutaneous, ocular, and vascular tissues. PXE is caused by mutations in ABCC6, a gene encoding an ABC transporter predominantly expressed in liver and kidneys. The functional relationship between ABCC6 and elastic fiber calcification is unknown. We speculated that ABCC6 deficiency in PXE patients induces a...
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