Fol. Biol. 2017, 63, 165-173

https://doi.org/10.14712/fb2017063050165

Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease

L. Králík1, E. Flachsová1, H. Hansíková1, V. Saudek2, J. Zeman1, Pavel Martásek1

1Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
2Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge Metabolic Research Laboratories, Cambridge, United Kingdom

Received October 2017
Accepted January 2018

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  • Theotoki Eleni I., Velentzas Athanassios D., Katarachia Stamatia A., Papandreou Nikos C., Kalavros Nikolas I., Pasadaki Sofia N., Giannopoulou Aikaterini F., Giannios Panagiotis, Iconomidou Vassiliki, Konstantakou Eumorphia G., Anastasiadou Ema, Papassideri Issidora S., Stravopodis Dimitrios J.: Targeting of copper-trafficking chaperones causes gene-specific systemic pathology inDrosophila melanogaster: prospective expansion of mutational landscapes that regulate tumor resistance to cisplatin. Biology Open 2019. <https://doi.org/10.1242/bio.046961>
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