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Karin Tuschl

PhD student
020 3549 5514 (t)


September 2012 - current: PhD Student, Steve Wilson Group UCL and Clinical and Molecular Genetics Unit, UCL Institute of Child Health

September 2009 - August 2012: Academic Clinical Fellow, Clinical and Molecular Genetics Unit, UCL Institute of Child Health

September 2007 - August 2012: Paediatric Speciality Training (ST1-5)

August 2005 - August 2007: Foundation Programme (FY1-2)

March 2005 - August 2005: Stipendium Metabolicum (Milupa®), Biochemistry, Endocrinology and Metabolism Unit, UCL Institute of Child Health

February 2004 - February 2005: MPhil “The in vitro effect of CSF-1 on the pathophysiology of vascular smooth muscle cells in diabetic/hyperglycaemic conditions”, Department of Clinical Biochemistry, Queens University, Belfast

September 2002 - April 2004: MD “The use of stable isotopes with special relevance to PKU”, Department of Metabolic Medicine, University Children’s Hospital of Vienna, Austria Sept 1997 - April 2004: Medical University of Vienna, Austria

RESEARCH INTEREST In my current PhD project I use zebrafish as a model for neurodegenerative disorders of trace metal metabolism in order to investigate the pathogenesis of these disorders and develop novel treatment strategies.


Theofilopoulos S, Griffiths WJ, Crick PJ, Yang S, Meljon A, Ogundare M, Kitambi SS, Lockhart A, Tuschl K, Clayton PT, Morris AA, Martinez A, Reddy MA, Martinuzzi A, Bassi MT, Honda A, Mizuochi T, Kimura A, Nittono H, De Michele G, Carbone R, Criscuolo C, Yau JL, Seckl JR, Schüle R, Schöls L, Sailer AW, Kuhle J, Fraidakis MJ, Gustafsson JÅ, Steffensen KR, Björkhem I, Ernfors P, Sjövall J, Arenas E, Wang Y. (2014)
Cholestenoic acids regulate motor neuron survival via liver X receptors.
J Clin Invest. 2014 Nov;124(11):4829-42. doi: 10.1172/JCI68506. Epub 2014 Oct 1.
click to download pdf

Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB. (2012)
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
Am J Hum Genet. 2012;90(3):457-66.
click to download pdf

Tuschl K, Mills PB, Parsons H, Malone M, Fowler D, Bitner-Glindzicz M, Clayton PT (2008)
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder.
J Inherit Metab Dis. 2008;31(2):151-63.
click to download pdf

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