Dr. Nitschke received his Ph.D. from the University of Potsdam, Germany, in 2013. He performed his doctoral work in the lab of Dr. Martin Steup, an internationally accomplished expert in the field of starch metabolism. This research area is of great relevance to an area of medicine, namely that of glycogen storage disorders. Dr. Nitschke focused his work on the investigation of Lafora disease (LD), where instead of synthesizing exclusively soluble glycogen, insoluble, starch-like glycogen particles accumulate and drive the severe form of progressive childhood-onset epilepsy. He completed his post-doc in the gene therapy lab of Dr. Berge Minassian at The Hospital for Sick Children Research Institute, Toronto, Canada, and is currently serving as an Assistant Professor at UT Southwestern Medical Center in the Department of Pediatrics with a secondary appointment in the Department of Biochemistry.
Dr. Nitschke is an expert in carbohydrate research, combining his interest in therapeutic application with a deep understanding of biochemical methodology. He has published several papers in high-ranking peer-reviewed journals and is a frequent speaker at the International Lafora Disease Workshop. In an effort to encourage scientific collaboration and to generally boost understanding of polyglucan metabolism, he is currently co-editing a text book that for the first time integrates enzymology of plant starch and glycogen.
His research led to a paradigm change in the field of glycogen metabolism in regards to Lafora disease pathogenesis. He demonstrated that glycogen hyperphosphorylation is a consequence but not the cause of the disease and that it is the abnormal glycogen structure that is critical for the disease. Furthermore, Dr. Nitschke contributed to the development and testing of a therapeutic approach that is based on a fusion of a starch degrading enzyme and diphtheria toxin (DT), a cell-penetrating protein. He could demonstrate that amylase fused to a non-toxic form of DT translocates into the cytosol of human cells, is functional and degrades cytosolic glycogen. Amylase-DT is a promising platform for the treatment of LD at stages where abnormal, starch-like glycogen has already accumulated.
Dr. Nitschke’s present work is based on two pillars: 1) basic research for a better understanding of glycogen metabolism, especially regarding the mechanisms that determine glycogen solubility, and 2) establishment of a novel enzyme replacement platform against multiple rare diseases that aims to overcome the caveats of purely viral delivery approaches.
- Cell Metabolism
- Enzyme Replacement
- Gene Therapy
- Glycogen Metabolism (regulation, quality control, related diseases)
- Glycogen Storage Disorders
- Modification of starch metabolism in transgenic Arabidopsis thaliana increases plant biomass and triples oilseed production.
- Liu F, Zhao Q, Mano N, Ahmed Z, Nitschke F, Cai Y, Chapman KD, Steup M, Tetlow IJ, Emes MJ, Plant Biotechnol. J. 2016 Mar 14 3 976-85
- Efficient Delivery of Structurally Diverse Protein Cargo into Mammalian Cells by a Bacterial Toxin.
- Auger A, Park M, Nitschke F, Minassian LM, Beilhartz GL, Minassian BA, Melnyk RA, Mol. Pharm. 2015 Aug 12 8 2962-71
- Dimeric quaternary structure of human laforin.
- Sankhala RS, Koksal AC, Ho L, Nitschke F, Minassian BA, Cingolani G, J. Biol. Chem. 2015 Feb 290 8 4552-9
- Transition from glycogen to starch metabolism in Archaeplastida.
- Cenci U, Nitschke F, Steup M, Minassian BA, Colleoni C, Ball SG, Trends Plant Sci. 2014 Jan 19 1 18-28
- Determination of glucan phosphorylation using heteronuclear 1H, 13C double and 1H, 13C, 31P triple-resonance NMR spectra.
- Schmieder P, Nitschke F, Steup M, Mallow K, Specker E, Magn Reson Chem 2013 Oct 51 10 655-61
Enzymology of Complex Alpha-Glucans (1st ed.).
Nitschke, F. (Ed.) (2021). CRC Press.
- American Society of Gene and Cell Therapy (2021)
- American Society for Biochemistry and Molecular Biology (2020)
- Association for Glycogen Storage Disease (2020)