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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Detalles Bibliográficos
Autores principales: Nam, Hwa Kyung, Emmanouil, Emmanouil, Hatch, Nan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9336114/
https://www.ncbi.nlm.nih.gov/pubmed/35909501
http://dx.doi.org/10.3389/fdmed.2022.846962

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9336114/
https://www.ncbi.nlm.nih.gov/pubmed/35909501
http://dx.doi.org/10.3389/fdmed.2022.846962

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