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Article

Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase.

Science translational medicine - 7 Jun 2017

Ziegler Shira G, Ferreira Carlos R, MacFarlane Elena Gallo, Riddle Ryan C, Tomlinson Ryan E, Chew Emily Y, Martin Ludovic, Ma Chen-Ting, Sergienko Eduard, Pinkerton Anthony B, Millán José Luis, Gahl William A, Dietz Harry C

Abstract excerpt

Biallelic mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a disease characterized by calcification in the skin, eyes, and blood vessels. The function of ATP-binding cassette C6 (ABCC6) and the pathogenesis of PXE remain unclear. We used mouse models and patient fibroblasts to demonstrate genetic interaction and shared biochemical and cellular mechanisms underlying ectopic calcification in PXE and related...

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Source

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Identifiers

PMID: 28592560
DOI: 10.1126/scitranslmed.aal1669
PMCID: PMC5606141

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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