Jan Smeitink

Prof. dr. Jan Smeitink
Professor of Mitochondrial Medicine
Radboud University Nijmegen Medical Centre
Nijmegen Centre for Mitochondrial Disorders
Department of Paediatrics (M425)
Geert Grooteplein 10
6500 HB  Nijmegen
THE NETHERLANDS
Tel +31 24 3619470
Fax + 31 24 3668532
E-mail: J.Smeitink@cukz.umcn.nl


Expertise:
Mitochondrial medicine. The NCMD is a full facility centre for patient care, diagnostics and research of mitochondria in health and disease. Contributions to the field include the characterization of most of the 39 structural nuclear genes encoding complex I and identification of mutations leading to complex deficient disorders (together with dr. Bert van den Heuvel), the first assembly model of NADH: ubiquinone oxidoreductase and the first human assembly factor (together with dr. Leo Nijtmans) and characterization of the various cell biological consequences of complex I disease (together with dr. Peter Willems and dr. Werner Koopman).


Relevant projects and functions:

• Coordinator of the EU FP-6 IP EUMITOCOMBAT (www.eumitocombat.eu)
• Member of the Management Team of the Nijmegen Centre for Molecular Life Sciences (www.ncmls.nl)
• Director of the Nijmegen Center for Mitochondrial Disorders (NCMD) (www.ncmd.nl)
• Scientific Advisory Member of the United Mitochondrial Disease Foundation
• Foreign Adjunct Professor at the Karolinska Institute, Sweden

Group structure:
3 Professors (3M), 2 senior post-docs (2M), 2 post-docs (1M, 1F), 10 PhD students (4F, 6M)


Selected publications:
1. Smeitink J, Zeviani M, Turnbull D, Jacobs HJ. Mitochondrial Medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell (Metabolism), 2006, 3: 9-13.
2. Visch HJ, Koopman WJ, Leusink A, van Emst-de Vries SE, van den Heuvel LW, Willems PH, Smeitink JA (2006): Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency. Biochim Biophys Acta. 1762: 115-23.

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