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.
- Enzyme Replacement
- Glycogen Metabolism
- Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases.
- Sullivan MA, Nitschke S, Skwara EP, Wang P, Zhao X, Pan XS, Chown EE, Wang T, Perri AM, Lee JPY, Vilaplana F, Minassian BA, Nitschke F, Cell Rep 2019 04 27 5 1334-1344.e6
- Lafora disease - from pathogenesis to treatment strategies.
- Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA, Nat Rev Neurol 2018 10 14 10 606-617
- Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease.
- Nitschke F, Sullivan MA, Wang P, Zhao X, Chown EE, Perri AM, Israelian L, Juana-López L, Bovolenta P, Rodríguez de Córdoba S, Steup M, Minassian BA, EMBO Mol Med 2017 07 9 7 906-917
- Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease.
- Nitschke F, Wang P, Schmieder P, Girard JM, Awrey DE, Wang T, Israelian J, Zhao X, Turnbull J, Heydenreich M, Kleinpeter E, Steup M, Minassian BA, Cell Metab. 2013 May 17 5 756-67
- Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease.
- Israelian L, Nitschke S, Wang P, Zhao X, Perri AM, Lee JPY, Verhalen B, Nitschke F, Minassian BA, J. Neurochem. 2020 Sep
- Sensitive quantification of a-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid.
- Nitschke S, Petkovic S, Ahonen S, Minassian BA, Nitschke F, J. Biol. Chem. 2020 Aug
- Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan.
- Sullivan MA, Nitschke S, Steup M, Minassian BA, Nitschke F, Int J Mol Sci 2017 Aug 18 8
- Update on pharmacological treatment of Progressive Myoclonus Epilepsies.
- Ferlazzo E, Trenite DK, de Haan GJ, Felix Nitschke F, Ahonen S, Gasparini S, Minassian BA Curr. Pharm. Des. 2017 Aug
- 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
- American Society for Biochemistry and Molecular Biology (2020)
- Association for Glycogen Storage Disease (2020)