Abstract
Pseudoxanthoma elasticum (PXE), a pleiotropic multisystem disorder affecting the skin, eyes, and cardiovascular system, is caused by mutations in the ABCC6/MRP6 expressed primarily in the liver. A question has arisen regarding the pathomechanism of PXE, particularly the "metabolic" versus the "PXE cell" hypotheses. Le Saux et al. have now provided partial support for the notion that PXE is primarily a metabolic disorder.
Publication types
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Comment
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Research Support, N.I.H., Extramural
MeSH terms
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Elastic Tissue / metabolism
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Extracellular Matrix / metabolism
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Humans
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Liver / chemistry
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Liver / pathology
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Metabolic Diseases / blood*
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Metabolic Diseases / genetics
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Metabolic Diseases / physiopathology*
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Multidrug Resistance-Associated Proteins / analysis
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Multidrug Resistance-Associated Proteins / genetics
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Multidrug Resistance-Associated Proteins / physiology
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Mutation
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Pseudoxanthoma Elasticum / blood*
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Pseudoxanthoma Elasticum / genetics
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Pseudoxanthoma Elasticum / physiopathology*
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Reproducibility of Results
Substances
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ABCC6 protein, human
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Multidrug Resistance-Associated Proteins