Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6
Document Type
Article
Publication Date
2-1-2019
Keywords
JMG
JAX Source
J Invest Dermatol 2019 Feb; 139(2):360-368.
Volume
139
Issue
2
First Page
360
Last Page
368
ISSN
1523-1747
PMID
30130617
Abstract
Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is caused by mutations in the ABCC6 gene encoding a putative efflux transporter ABCC6. It was recently shown that the absence of ABCC6-mediated adenosine triphosphate release from the liver and, consequently, reduced inorganic pyrophosphate levels underlie the pathogenesis of PXE. Given that tissue-nonspecific alkaline phosphatase (TNAP), encoded by ALPL, is the enzyme responsible for degrading inorganic pyrophosphate, we hypothesized that reducing TNAP levels either by genetic or pharmacological means would lead to amelioration of the ectopic mineralization phenotype in the Abcc6
Recommended Citation
Li Q,
Huang J,
Pinkerton A,
Millan J,
van Zelst B,
Levine M,
Sundberg J,
Uitto J.
Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6 J Invest Dermatol 2019 Feb; 139(2):360-368.