Biblio

Author Title [ Type(Desc)] Year
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Journal Article
Boerstler T, Wend H, Krumbiegel M, Kavyanifar A, Reis A, Lie DChichung, Winner B, Turan S. CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome. Stem Cell Res. 2020;47:101889.
Akdaş EYağız, Turan S, Guhathakurta D, Ekici A, Salar S, D Lie C, Winner B, Fejtova A. CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome. Stem Cell Res. 2022;67:103012.
Brazdis R-M, Alecu J, Marsch D, Dahms A, Simmnacher K, Lörentz S, Brendler A, Schneider Y, Marxreiter F, Roybon L, et al. Demonstration of brain region-specific neuronal vulnerability in human iPSC-based model of familial Parkinson's disease. Hum Mol Genet. 2020.
Pérez-Brangulí F, Mishra HK, Prots I, Havlicek S, Kohl Z, Saul D, Rummel C, Dorca-Arevalo J, Regensburger M, Graef D, et al. Dysfunction of spatacsin leads to axonal pathology in SPG11 linked hereditary spastic paraplegia. Hum Mol Genet. 2014.
Havlicek S, Kohl Z, Mishra HK, Prots I, Eberhardt E, Denguir N, Wend H, Plötz S, Boyer L, Marchetto MCN, et al. Gene dosage dependent rescue of HSP neurite defects in SPG4 patients' neurons. Hum Mol Genet. 2013.
Krumm L, Pozner T, Kaindl J, Regensburger M, Günther C, Turan S, Asadollahi R, Rauch A, Winner B. Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in. Stem Cell Res. 2021;56:102520.
Winner B, Marchetto MCM, Winkler J, Gage FH. Human induced pluripotent stem cells pave the road for a better understanding of motor neuron disease. Hum Mol Genet. 2014.
Pérez-Brangulí F, Buchsbaum IY, Pozner T, Regensburger M, Fan W, Schray A, Börstler T, Mishra H, Gräf D, Kohl Z, et al. Human SPG11 cerebral organoids reveal cortical neurogenesis impairment. Hum Mol Genet. 2018.
Schulze M, Hoja S, Winner B, Winkler J, Edenhofer F, Riemenschneider MJ. Model Testing of PluriTest with Next-Generation Sequencing Data. Stem Cells Dev. 2016.
Krumm L, Pozner T, Zagha N, Coras R, Arnold P, Tsaktanis T, Scherpelz K, Davis MY, Kaindl J, Stolzer I, et al. Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients. Acta Neuropathol. 2024;147(1):28.
Turan S, Boerstler T, Kavyanifar A, Loskarn S, Reis A, Winner B, Lie DChichung. A novel human stem cell model for Coffin-Siris Syndrome like syndrome reveals the importance of SOX11 dosage for neuronal differentiation and survival. Hum Mol Genet. 2019.
Asadollahi R, Delvendahl I, Muff R, Tan G, Rodríguez DGonzález, Turan S, Russo M, Oneda B, Joset P, Boonsawat P, et al. Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Hum Mol Genet. 2023.
Krumm L, Winkler J, Winner B, Regensburger M. Plasma Neurofilaments: Potential Biomarkers of SPG11-Related Hereditary Spastic Paraplegia. Mov Disord. 2024.
Schmidt S, Stautner C, Vu DTung, Heinz A, Regensburger M, Karayel Ö, Trümbach D, Artati A, Kaltenhäuser S, Nassef MZakaria, et al. A reversible state of hypometabolism in a human cellular model of sporadic Parkinson's disease. Nat Commun. 2023;14(1):7674.
Meents JE, Bressan E, Sontag S, Foerster A, Hautvast P, Rösseler C, Hampl M, Schüler H, Goetzke R, Le TKim Chi, et al. The role of Nav1.7 in human nociceptors: insights from human iPS cell-derived sensory neurons of erythromelalgia patients. Pain. 2019.
Sommer A, Maxreiter F, Krach F, Fadler T, Grosch J, Maroni M, Graef D, Eberhardt E, Riemenschneider MJ, Yeo GW, et al. Th17 Lymphocytes Induce Neuronal Cell Death in a Human iPSC-Based Model of Parkinson's Disease. Cell Stem Cell. 2018;23(1):123-131.e6.
Simmnacher K, Krach F, Schneider Y, Alecu JE, Mautner L, Klein P, Roybon L, Prots I, Xiang W, Winner B. Unique signatures of stress-induced senescent human astrocytes. Exp Neurol. 2020:113466.