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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, Petković S, Zhao X, DiGiovanni LF, Perri AM, Israelian L, Grossman TR, Kordasiewicz H, Vilaplana F, Iwai K, Nitschke F, Minassian BA. Nitschke S, et al. Brain. 2022 Jul 29;145(7):2361-2377. doi: 10.1093/brain/awac017. Brain. 2022. PMID: 35084461 Free PMC article.
Lafora disease - from pathogenesis to treatment strategies.
Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA. Nitschke F, et al. Among authors: nitschke s. Nat Rev Neurol. 2018 Oct;14(10):606-617. doi: 10.1038/s41582-018-0057-0. Nat Rev Neurol. 2018. PMID: 30143794 Free PMC article. Review.
MYORG is associated with recessive primary familial brain calcification.
Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, Minassian BA, Sadaka Y, Lerer I, Tabach Y, Meiner V. Arkadir D, et al. Among authors: nitschke s. Ann Clin Transl Neurol. 2018 Nov 15;6(1):106-113. doi: 10.1002/acn3.684. eCollection 2019 Jan. Ann Clin Transl Neurol. 2018. PMID: 30656188 Free PMC article.
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. Sullivan MA, et al. Among authors: nitschke s, nitschke f. Cell Rep. 2019 Apr 30;27(5):1334-1344.e6. doi: 10.1016/j.celrep.2019.04.017. Cell Rep. 2019. PMID: 31042462 Free PMC article.
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. Gumusgoz E, et al. Among authors: nitschke s, nitschke f. Neurotherapeutics. 2021 Apr;18(2):1414-1425. doi: 10.1007/s13311-021-01040-7. Epub 2021 Apr 8. Neurotherapeutics. 2021. PMID: 33830476 Free PMC article.
30 results