Articles with "ankh mutants" as a keyword



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

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Published in 2020 at "Scientific Reports"

DOI: 10.1038/s41598-020-63911-x

Abstract: 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… read more here.

Keywords: pyrophosphate; ankh mutants; enpp1; localisation ... See more keywords