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

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Creators Name:Rutsch, F. and Ruf, N. and Vaingankar, S. and Toliat, M.R. and Suk, A. and Hoehne, W. and Schauer, G. and Lehmann, M. and Roscioli, T. and Schnabel, D. and Epplen, J.T. and Knisely, A. and Superti-Furga, A. and McGill, J. and Filippone, M. and Sinaiko, A.R. and Vallance, H. and Hinrichs, B. and Smith, W. and Ferre, M. and Terkeltaub, R. and Nuernberg, P.
Journal Title:Nature Genetics
Journal Abbreviation:Nat Genet
Page Range:379-381
Date:1 January 2003
Keywords:Arteries, Calcinosis, DNA Mutational Analysis, Mutation, Phenotype, Phosphoric Diester Hydrolases, Pyrophosphatases
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 I (ENPP1). This cell surface enzyme generates inorganic pyrophosphate (PPi), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification.
Publisher:Nature Publishing Group (U.S.A.)
Item Type:Article

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