Article
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.
PLoS genetics - 1 Apr 2018
Hendrickx Gretl, Borra Vere M, Steenackers Ellen, Yorgan Timur A, Hermans Christophe, Boudin Eveline, Waterval Jérôme J, Jansen Ineke D C, Aydemir Tolunay Beker, Kamerling Niels, Behets Geert J, Plumeyer Christine, D'Haese Patrick C, Busse Björn, Everts Vincent, Lammens Martin, Mortier Geert, Cousins Robert J, Schinke Thorsten, Stokroos Robert J, Manni Johannes J, Van Hul Wim
Abstract excerpt
Hyperostosis Cranialis Interna (HCI) is a rare bone disorder characterized by progressive intracranial bone overgrowth at the skull. Here we identified by whole-exome sequencing a dominant mutation (L441R) in SLC39A14 (ZIP14). We show that L441R ZIP14 is no longer trafficked towards the plasma membrane and excessively accumulates intracellular zinc, resulting in hyper-activation of cAMP-CREB and NFAT signaling....
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