Article
NT5E mutations that cause human disease are associated with intracellular mistrafficking of NT5E protein.
PloS one - 1 Jan 2014
Fausther Michel, Lavoie Elise G, Goree Jessica R, Baldini Giulia, Dranoff Jonathan A
Abstract excerpt
Ecto-5'-nucleotidase/CD73/NT5E, the product of the NT5E gene, is the dominant enzyme in the generation of adenosine from degradation of AMP in the extracellular environment. Nonsense (c.662C→A, p.S221X designated F1, c.1609dupA, p.V537fsX7 designated F3) and missense (c.1073G→A, p.C358Y designated F2) NT5E gene mutations in three distinct families have been shown recently to cause premature arterial calcification...
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