Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.
Document Type
Article
Publication Date
5-2017
Keywords
Animals, Diphosphates, Disease Models, Animal, Female, Gene Knockout Techniques, Homeostasis, Kidney, Liver, Male, Multidrug Resistance-Associated Proteins, Mutation, Pseudoxanthoma Elasticum, Rats, Rats, Sprague-Dawley
JAX Source
J Invest Dermatol 2017 May; 137(5):1025-1032
Volume
137
Issue
5
First Page
1025
Last Page
1032
ISSN
1523-1747
PMID
28111129
Grant
AR055225
Abstract
Pseudoxanthoma elasticum, a heritable ectopic mineralization disorder, is caused by mutations in the ABCC6 gene primarily expressed in the liver and the kidneys. The fundamental question on pathogenesis of pseudoxanthoma elasticum, whether lack of ABCC6 expression in liver or kidney is the primary site of molecular pathology in peripheral tissues, has not been addressed. We generated a series of Abcc6(-/-) rats as models of pseudoxanthoma elasticum depicting ectopic mineralization in the skin, eyes, and the arterial blood vessels. Plasma inorganic pyrophosphate (PPi) level was reduced. J Invest Dermatol 2017 May; 137(5):1025-1032
Recommended Citation
Li Q,
Kingman J,
van de Wetering K,
Tannouri S,
Sundberg J,
Uitto J.
Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum. J Invest Dermatol 2017 May; 137(5):1025-1032