Featured Publications

An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice.

Nitschke S, Chown EE, Zhao X, Gabrielian S, Petkovic S, Guisso DR, Perri AM, Wang P, Ahonen SJ, Nitschke F, Minassian BA, J Biol Chem 2020 Dec

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

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

Targeting Gys1 with AAV-SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models.

Gumusgoz E, Guisso DR, Kasiri S, Wu J, Dear M, Verhalen B, Nitschke S, Mitra S, Nitschke F, Minassian BA, Neurotherapeutics 2021 Apr

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

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