2024
DOI: 10.1101/2024.03.21.586098
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Bone Mineralization Regulation: Using Zebrafish as a Model to Study ANKH-associated Mineralization Disorders

Nuwanthika Wathuliyadde,
Katherine E. Willmore,
Gregory M. Kelly

Abstract: Craniometaphyseal Dysplasia (CMD) is a rare skeletal disorder that can result from mutations in theANKHgene. This gene encodes progressive ankylosis (ANK), which is responsible for transporting inorganic pyrophosphate (PPi) and ATP from the intracellular to the extracellular environment, where PPi inhibits bone mineralization. When ANK is dysfunctional, as in patients with CMD, the passage of PPi to the extracellular environment is reduced, leading to excess mineralization, particularly in bones of the skull. … Show more

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