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The Purinergic Nature of Pseudoxanthoma Elasticum

26 Jan 2024

Abstract excerpt

Pseudoxanthoma Elasticum (PXE) is an inherited disease characterized by elastic fiber calcification in the eyes, the skin and the cardiovascular system. PXE results from mutations in ABCC6 that encodes an ABC transporter primarily expressed in the liver and kidneys. It took nearly 15 years after identifying the gene to better understand the etiology of PXE. ABCC6 function facilitates the efflux of ATP, which is...

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PMID: 38392293
DOI: 10.3390/biology13020074

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