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

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Serval ID
serval:BIB_4530FBF55155
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Production externe
Title
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Journal
Nature Genetics
Author(s)
Rutsch F., Ruf N., Vaingankar S., Toliat M.R., Suk A., Höhne W., Schauer G., Lehmann M., Roscioli T., Schnabel D., Epplen J.T., Knisely A., Superti-Furga A., McGill J., Filippone M., Sinaiko A.R., Vallance H., Hinrichs B., Smith W., Ferre M., Terkeltaub R., Nürnberg P.
ISSN
1061-4036 (Print)
ISSN-L
1061-4036
Publication state
Published
Issued date
2003
Volume
34
Number
4
Pages
379-381
Language
english
Abstract
Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. We analyzed affected individuals from 11 unrelated kindreds and found that IIAC was associated with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This cell surface enzyme generates inorganic pyrophosphate (PP(i)), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification.
Keywords
Arteries/pathology, Calcinosis/enzymology, Calcinosis/genetics, DNA Mutational Analysis, Female, Humans, Infant, Male, Mutation, Phenotype, Phosphoric Diester Hydrolases/genetics, Pyrophosphatases/genetics
DOI
10.1038/ng1221
Pubmed
12881724
Web of science
000184470500015
Create date
14/03/2011 17:08
Last modification date
20/08/2019 14:49
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