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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification |
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| Authors: | Rutsch Frank Ruf Nico Vaingankar Sucheta Toliat Mohammad R Suk Anita Höhne Wolfgang Schauer Galen Lehmann Mandy Roscioli Tony Schnabel Dirk Epplen Jörg T Knisely Alex Superti-Furga Andrea McGill James Filippone Marco Sinaiko Alan R Vallance Hillary Hinrichs Bernd Smith Wendy Ferre Merry Terkeltaub Robert Nürnberg Peter |
| Affiliation: | Department of Medicine, Veterans Affairs Medical Center, University of California San Diego, 3350 La Jolla Village Drive, La Jolla, California 92161, USA. |
| 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. |
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