Article
Gene Therapy Using Adeno-Associated Virus Serotype 8 Encoding TNAP-D10 Improves the Skeletal and Dentoalveolar Phenotypes in Alpl-/- Mice.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 2021
Kinoshita Yuka, Mohamed Fatma F, Amadeu de Oliveira Flavia, Narisawa Sonoko, Miyake Koichi, Foster Brian L, Millán José Luis
Abstract excerpt
Hypophosphatasia (HPP) is caused by loss-of-function mutations in the ALPL gene that encodes tissue-nonspecific alkaline phosphatase (TNAP), whose deficiency results in the accumulation of extracellular inorganic pyrophosphate (PPi ), a potent mineralization inhibitor. Skeletal and dental hypomineralization characterizes HPP, with disease severity varying from life-threatening perinatal or infantile forms to...
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