Featured Publications

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