Publications

Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation

Alao EO, Sheibani M, Wu J, Marriam U, Evans D, Kasiri S, Verma M, Nitschke S, Nitschke F, Gray SJ, Mitra S, Minassian BA 2026 Mar Neurotherapeutics 23

Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease

Muccioli L, Ganceviciute B, Becker F, Minardi R, Tappatà M, Bachhuber F, Alkhatib M, Cirak S, Weishaupt J, Verma M, Tumani H, Wagner J, Messahel S, Nitschke F, Minassian BA, Bisulli F, Brenner D 2025 Dec Neurology: Genetics 11 e200319

Covalently linked phosphate monoesters on alpha-polyglucans reduce substrate affinity of branching enzymes

Butler V, Shaaban H, Nasanovsky L, White JK, Hebb O, Jones L, Whiting M, Mukherjee-Roy N, Montalbano AP, Machado Vides CE, Nitschke F, Tetlow IJ 2025 Jul Carbohydrate Polymers 359

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease

Nitschke S, Montalbano AP, Whiting ME, Smith BH, Mukherjee-Roy N, Marchioni CR, Sullivan MA, Zhao X, Wang P, Mount H, Verma M, Minassian BA, Nitschke F 2025 Mar EMBO Journal 44 1379-1413

Neurological, metabolic and inflammatory phenotypes in a mouse model of ECHS1 deficiency

Eller MM, Zuberi AR, Fu X, Montalbano AP, Nitschke F, Burgess SC, Lutz C, Bailey RM 2025 Brain Communications 7

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 Dec Communications Biology 7

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 Jun Acta Neuropathologica 147

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

Nitschke F, Montalbano AP 2022 Oct Neurotherapeutics 19 1878-1882

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency

Nitschke S, Sullivan MA, Mitra S, Marchioni CR, Lee JP, Smith BH, Ahonen S, Wu J, Chown EE, Wang P, Petković S, Zhao X, Digiovanni LF, Perri AM, Israelian L, Grossman TR, Kordasiewicz H, Vilaplana F, Iwai K, Nitschke F, Minassian BA 2022 Jul Brain 145 2361-2377

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 2022 Apr Plant Physiology 188 1866-1886

Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease

Ahonen S, Nitschke S, Grossman TR, Kordasiewicz H, Wang P, Zhao X, Guisso DR, Kasiri S, Nitschke F, Minassian BA 2021 Oct Brain 144 2985-2993

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 JP, Verhalen B, Nitschke F, Minassian BA 2021 Jun Journal of Neurochemistry 157 1897-1910

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 18 1414-1425

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

Nitschke S, Chown EE, Xiaochu Z, Gabrielian S, Petkovic S, Guisso DR, Perri AM, Wang P, Ahonen S, Nitschke F, Minassian BA 2021 Jan Journal of Biological Chemistry 296

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 Oct Journal of Biological Chemistry 295 14698-14709

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 JP, Vilaplana F, Minassian BA, Nitschke F 2019 Apr Cell Reports 27 1334-1344.e6

Lafora disease — from pathogenesis to treatment strategies

Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA 2018 Oct Nature Reviews Neurology 14 606-617

Pathogenesis of lafora disease: Transition of soluble glycogen to insoluble polyglucosan

Sullivan MA, Nitschke S, Steup M, Minassian BA, Nitschke F 2017 Aug International journal of molecular sciences 18

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 Jul EMBO Molecular Medicine 9 906-917

Update on pharmacological treatment of progressive myoclonus epilepsies

Ferlazzo E, Trenite DK, de Haan GJ, Nitschke F, Ahonen S, Gasparini S, Minassian BA 2017 Jan Current Pharmaceutical Design 23 5662-5666

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 Biotechnology Journal 14 976-985

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 Molecular Pharmaceutics 12 2962-2971

Dimeric quaternary structure of human laforin

Sankhala RS, Koksal AC, Ho L, Nitschke F, Minassian BA, Cingolani G 2015 Feb Journal of Biological Chemistry 290 4552-4559

Transition from glycogen to starch metabolism in archaeplastida

Cenci U, Nitschke F, Steup M, Minassian BA, Colleoni C, Ball SG 2014 Jan Trends in Plant Science 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 Magnetic Resonance in Chemistry 51 655-661

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 Metabolism 17 756-767