Publications

Novel Cross-Correction-Enabled Gene Therapy for CDKL5-Deficiency Disorder.

Nitschke F, Montalbano AP, 2022 Oct Neurotherapeutics

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.

Nitschke S, Sullivan MA, Mitra S, Marchioni CR, Lee JPY, Smith BH, Ahonen S, Wu J, Chown EE, Wang P, Petkovic S, Zhao X, DiGiovanni LF, Perri AM, Israelian L, Grossman TR, Kordasiewicz H, Vilaplana F, Iwai K, Nitschke F, Minassian BA, 2022 Jan Brain

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, 2020 Dec J Biol Chem

Sensitive quantification of a-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid.

Nitschke S, Petkovic S, Ahonen S, Minassian BA, Nitschke F, 2020 Aug J. Biol. Chem.

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, 2019 04 Cell Rep 5 27 1334-1344.e6

Lafora disease - from pathogenesis to treatment strategies.

Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA, 2018 10 Nat Rev Neurol 10 14 606-617

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, 2017 07 EMBO Mol Med 7 9 906-917

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, 2013 May Cell Metab. 5 17 756-67

GDE5/Gpcpd1 activity determines phosphatidylcholine composition in skeletal muscle and regulates contractile force in mice.

Aisyah R, Ohshima N, Watanabe D, Nakagawa Y, Sakuma T, Nitschke F, Nakamura M, Sato K, Nakahata K, Yokoyama C, Marchioni CR, Kumrungsee T, Shimizu T, Sotomaru Y, Takeo T, Nakagata N, Izumi T, Miura S, Minassian BA, Yamamoto T, Wada M, Yanaka N, 2024 May Commun Biol 1 7 604

Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.

Mitra S, Chen B, Shelton JM, Nitschke S, Wu J, Covington L, Dear M, Lynn T, Verma M, Nitschke F, Fuseya Y, Iwai K, Evers BM, Minassian BA, 2024 Feb Acta Neuropathol 1 147 46

CRISPR-Cas9-mediated editing of starch branching enzymes results in altered starch structure in Brassica napus.

Wang L, Wang Y, Makhmoudova A, Nitschke F, Tetlow IJ, Emes MJ, 2021 Nov Plant Physiol

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, 2021 Apr Neurotherapeutics

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, 2020 Sep J. Neurochem.

Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan.

Sullivan MA, Nitschke S, Steup M, Minassian BA, Nitschke F, 2017 Aug Int J Mol Sci 8 18

Update on pharmacological treatment of Progressive Myoclonus Epilepsies.

Ferlazzo E, Trenite DK, de Haan GJ, Felix Nitschke F, Ahonen S, Gasparini S, Minassian BA 2017 Aug Curr. Pharm. Des.

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, 2016 Mar Plant Biotechnol. J. 3 14 976-85

Dimeric quaternary structure of human laforin.

Sankhala RS, Koksal AC, Ho L, Nitschke F, Minassian BA, Cingolani G, 2015 Feb J. Biol. Chem. 8 290 4552-9

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, 2015 Aug Mol. Pharm. 8 12 2962-71

Transition from glycogen to starch metabolism in Archaeplastida.

Cenci U, Nitschke F, Steup M, Minassian BA, Colleoni C, Ball SG, 2014 Jan Trends Plant Sci. 1 19 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, 2013 Oct Magn Reson Chem 10 51 655-61