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Pseudoxanthoma elasticum: a metabolic disease?

Authors :
Jiang Q
Uitto J
Source :
The Journal of investigative dermatology [J Invest Dermatol] 2006 Jul; Vol. 126 (7), pp. 1440-1.
Publication Year :
2006

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.

Subjects

Subjects :
Elastic Tissue metabolism
Extracellular Matrix metabolism
Humans
Liver chemistry
Liver pathology
Metabolic Diseases genetics
Multidrug Resistance-Associated Proteins analysis
Multidrug Resistance-Associated Proteins genetics
Multidrug Resistance-Associated Proteins physiology
Mutation
Pseudoxanthoma Elasticum genetics
Reproducibility of Results
Metabolic Diseases blood
Metabolic Diseases physiopathology
Pseudoxanthoma Elasticum blood
Pseudoxanthoma Elasticum physiopathology

Details

Language :
English
ISSN :
0022-202X
Volume :
126
Issue :
7
Database :
MEDLINE
Journal :
The Journal of investigative dermatology
Publication Type :
Academic Journal
Accession number :
16778810
Full Text :
https://doi.org/10.1038/sj.jid.5700267
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