Dentoalveolar Defects of Hypophosphatasia are Recapitulated in a Sheep Knock-In Model.

ABSTRACT: Hypophosphatasia (HPP) is the inherited error-of-metabolism caused by mutations in ALPL, reducing the function of tissue-nonspecific alkaline phosphatase (TNAP/TNALP/TNSALP). HPP is characterized by defective skeletal and dental mineralization and is categorized into several clinical subtypes based on age of onset and severity of manifestations, though premature tooth loss from acellular cementum defects is common across most HPP subtypes. Genotype-phenotype associations and mechanisms underlying musculoskeletal, dental, and other defects remain poorly characterized. Murine models that have provided significant insights into HPP pathophysiology also carry limitations including monophyodont dentition, lack of osteonal remodeling of cortical bone, and differing patterns of skeletal growth. T

SUBMITTER: Mohamed FF 

PROVIDER: S-EPMC9613530 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature