Article
Untargeted Metabolomics Analysis of ABCC6-Deficient Mice Discloses an Altered Metabolic Liver Profile.
Journal of proteome research - 2 Dec 2016
Rasmussen Mie R, Nielsen Kirstine L, Laursen Mia R, Nielsen Camilla B, Svendsen Pia, Dimke Henrik, Christensen Erik I, Johannsen Mogens, Moestrup Søren K
Abstract excerpt
Loss-of-function mutations in the transmembrane ABCC6 transport protein cause pseudoxanthoma elasticum (PXE), an ectopic, metabolic mineralization disorder that affects the skin, eye, and vessels. ABCC6 is assumed to mediate efflux of one or several small molecule compounds from the liver cytosol to the circulation. Untargeted metabolomics using liquid chromatography-mass spectrometry was employed to inspect...
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