Article

Disturbed ATP and AMPK homeostasis in an Ank <sub>F377del</sub> mouse model for craniometaphyseal dysplasia

2026-04-17

Abstract excerpt

<h4>Summary</h4> Craniometaphyseal dysplasia (CMD) is a rare genetic disorder characterized by hyperostosis of craniofacial bones and flared metaphyses of long bones. Mutations in ANKH (mouse orthologue ANK), a transmembrane protein mediating ATP and citrate efflux, cause the autosomal dominant form of CMD. How ANK mutations in CMD affect ATP/citrate homeostasis and downstream targets remains unknown. We determin...

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Literature Corpus work: e49e5d43-6507-542b-a199-6c0c25d61d80
DOI: 10.64898/2026.04.15.717889

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