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Article

Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia.

Scientific reports - 4 May 2020

Vijen Sunny, Hawes Chris, Runions John, Russell R Graham G, Wordsworth B Paul, Carr Andrew J, Pink Ryan C, Zhang Yun

Abstract excerpt

ANKH mutations are associated with calcium pyrophosphate deposition disease and craniometaphyseal dysplasia. This study investigated the effects of these ANKH mutants on cellular localisation and associated biochemistry. We generated four ANKH overexpression-plasmids containing either calcium pyrophosphate deposition disease or craniometaphyseal dysplasia linked mutations: P5L, E490del and S375del, G389R. They...

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Identifiers

PMID: 32366894
DOI: 10.1038/s41598-020-63911-x
PMCID: PMC7198517

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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