Altered transition metal homeostasis in Niemann-Pick disease, type C1
Ya Hui Hung, Noel G Faux, David W Killilea, Nicole Yanjanin, Sally Firnkes, Irene Volitakis, George Ganio, Mark Walterfang, Caroline Hastings, Forbes D Porter, Daniel S Ory, Ashley I Bush
Metallomics: integrated biometal science | ROYAL SOC CHEMISTRY | Published : 2014
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This work was supported by grants from the National Health & Medical Research Council of Australia (A.I.B.), Cooperative Research Centre for Mental Health (A.I.B.), the Addi and Cassi Fund (A.I.B. and Y.H.H.), Perpetual Trustees (Harry Secomb Foundation and Payne L & Heather Medical Research Charitable Foundation (A.I.B.)), intramural research program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (F.D.P.), Ara Parseghian Medical Research Foundation (D.S.O. and F.D.P.), Dana's Angels Research Trust (D.S.O. and F.D.P.). Bench to Bedside award from the NIH Clinical Center and Office of Rare Diseases (F.D.P.). The Florey Institute of Neuroscience and Mental Health acknowledges the strong support from the Victorian Government and in particular the funding from the Operational Infrastructure Support Grant. The authors thank Shih-Min Chiu, Amelia Sedjahtera, Lisa Bray, Kali Hubbert, Charlotte Jordan, Tai Holland, and the Australian Imaging, Biomarker and Lifestyle (AIBL) Study research team (Brett Trounson, Christopher Fowler, Rebecca Rumble and Kelly Pertile) for technical support; and Dr Paul Adlard (Florey Institute of Neuroscience and Mental Health) for provision of non-NP-C control CSF samples. The authors would like to thank NP-C patients and their families, and healthy control subjects for their contribution and participation in this study.