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

Author:

Ziegler Shira G.1ORCID,Ferreira Carlos R.2,MacFarlane Elena Gallo1ORCID,Riddle Ryan C.34ORCID,Tomlinson Ryan E.3,Chew Emily Y.5ORCID,Martin Ludovic6,Ma Chen-Ting7,Sergienko Eduard7,Pinkerton Anthony B.7ORCID,Millán José Luis7,Gahl William A.2ORCID,Dietz Harry C.18ORCID

Affiliation:

1. Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

2. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20814, USA.

3. Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

4. Baltimore Veterans Administrations Medical Center, Baltimore, MD 21201, USA.

5. National Eye Institute, National Institutes of Health, Bethesda, MD 20814, USA.

6. PXE Reference Center and MitoVasc Institute, Angers University Hospital, Angers, France.

7. Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.

8. Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.

Abstract

Ectopic calcification in PXE integrates both local and systemic perturbations of extracellular ATP metabolism and can be attenuated with a TNAP inhibitor.

Funder

National Institutes of Health

Howard Hughes Medical Institute

National Human Genome Research Institute

Johns Hopkins University

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference51 articles.

1. Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

2. C. Ferreira S. Ziegler W. Gahl “Generalized arterial calcification of infancy ” R. A. Pagon M. P. Adam H. H. Ardinger S. E. Wallace A. Amemiya L. J. H. Bean T. D. Bird C.-T. Fong H. C. Mefford R. J. H. Smith K. Stephens Eds. (GeneReviews University of Washington 2014); www.ncbi.nlm.nih.gov/books/NBK253403/.

3. Phosphate-Induced Vascular Calcification: Role of Pyrophosphate and Osteopontin

4. Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

5. Idiopathic arterial calcification of infancy and pyrophosphate deficiency

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