GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity

GALNT3 encodes UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyl-transferarase 3 (ppGalNacT3), a glycosyltransferase which has been suggested to prevent proteolysis of FGF23, a potent phosphaturic protein. Accordingly, loss-of-function mutations in GALNT3 cause hyperphosphatemic...

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Bibliographic Details
Main Authors: Chefetz, Ilana, Kohno, Kimitoshi, Izumi, Hiroto, Uitto, Jouni, Richard, Gabriele, Sprecher, Eli
Format: Artigo
Language:Inglês
Published: 2008
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3169302/
https://ncbi.nlm.nih.gov/pubmed/18976705
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2008.09.016
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