Haploinsufficient TNAP Mice Display Decreased Extracellular ATP Levels and Expression of Pannexin-1 Channels

• Main Authors: Álvaro Sebastián-Serrano (Author), Laura de Diego-García (Author), David C. Henshall (Author), Tobías Engel (Author), Miguel Díaz-Hernández (Author)
• Format: Book
• Published: Frontiers Media S.A., 2018-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Hypophosphatasia (HPP) is a rare heritable metabolic bone disease caused by hypomorphic mutations in the ALPL (in human) or Akp2 (in mouse) gene, encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme. In addition to skeletal and dental malformations, severe forms of HPP are also charact...