Deletion of the Pyrophosphate Generating Enzyme ENPP1 Rescues Craniofacial Abnormalities in the TNAP−/− Mouse Model of Hypophosphatasia and Reveals FGF23 as a Marker of Phenotype Severity

Deletion of the Pyrophosphate Generating Enzyme ENPP1 Rescues Craniofacial Abnormalities in the TNAP−/− Mouse Model of Hypophosphatasia and Reveals FGF23 as a Marker of Phenotype Severity

Hypophosphatasia is a rare heritable metabolic disorder caused by deficient Tissue Non-specific Alkaline Phosphatase (TNAP) enzyme activity. A principal function of TNAP is to hydrolyze the tissue mineralization inhibitor pyrophosphate. ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1) is a...

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Bibliographic Details
Main Authors: Hwa Kyung Nam, Emmanouil Emmanouil, Nan E. Hatch
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Dental Medicine
Subjects:
craniofacial abnormalities
hypophosphatasia
pyrophosphate (PPi)
craniosynostosis
fibroblast growth factor 23 (FGF23)
tissue non-specific alkaline phosphatase (TNAP)
Online Access:https://www.frontiersin.org/articles/10.3389/fdmed.2022.846962/full

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https://www.frontiersin.org/articles/10.3389/fdmed.2022.846962/full

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