Science Translational Medicine · 2017 · 110 citations · 44 references
Life SciencesBiochemistryPhysiologyEnzymologyMetabolic RegulationMetabolismAtp HydrolysisAtp SynthesisCalcium SignalingEnergy MetabolismProtein Phosphatase SignalingCalcificationPseudoxanthoma Elasticum
Ectopic calcification in PXE integrates both local and systemic perturbations of extracellular ATP metabolism and can be attenuated with a TNAP inhibitor.
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Mutations in ABCC6 cause pseudoxanthoma elasticum
Arthur A. Bergen, Astrid S. Plomp, Ellen J. Schuurman et al. · Nature Genetics · 2000 · 597 citations
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
Olivier Le Saux, Zsolt Urbán, Cordula Tschuch et al. · Nature Genetics · 2000 · 540 citations · Full text