Ontology highlight
ABSTRACT:
SUBMITTER: Kauffenstein G
PROVIDER: S-EPMC6626543 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Kauffenstein Gilles G Yegutkin Gennady G GG Khiati Salim S Pomozi Viola V Le Saux Olivier O Leftheriotis Georges G Lenaers Guy G Henrion Daniel D Martin Ludovic L
The Journal of investigative dermatology 20180306 8
Pseudoxanthoma elasticum (PXE) is a rare genetic condition primarily caused by hepatic ABCC6 transporter dysfunction. Most clinical manifestations of PXE are due to premature calcification of elastic fibers. However, the vascular impact of PXE is pleiotropic and remains ill defined. ABCC6 expression has recently been associated with cellular nucleotide export. We studied the impact of ABCC6 deficiency on blood levels of adenosine triphosphate and related metabolites and on soluble nucleotidase a ...[more]