Article
Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.
Endocrinology - 1 Jun 2009
Ichikawa Shoji, Sorenson Andrea H, Austin Anthony M, Mackenzie Donald S, Fritz Timothy A, Moh Akira, Hui Siu L, Econs Michael J
Abstract excerpt
Familial tumoral calcinosis is characterized by ectopic calcifications and hyperphosphatemia. The disease is caused by inactivating mutations in fibroblast growth factor 23 (FGF23), Klotho (KL), and uridine diphosphate-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3). In vitro studies indicate that GALNT3 O-glycosylates a phosphaturic hormone, FGF23, and prevents its...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.