Publications on iPSCs

  1. Seibler P, Graziotto J, Jeong H, Simunovic F, Klein C, Krainc D. Mitochondrial Parkin Recruitment Is Impaired in Neurons Derived from Mutant PINK1 Induced Pluripotent Stem Cells. J Neurosci. 2011;31:5970-5976.
  2. Rakovic A, Shurkewitsch K, Seibler P, Grünewald A, Zanon A, Hagenah J, Krainc D, Klein C. Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons. J Biol Chem. 2013;288:2223-2237.
  3. Trilck M, Hübner R, Seibler P, Klein C, Rolfs A, Frech MJ. Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks. Orphanet J Rare Dis. 2013;8:144.
  4. Morais VA, Haddad D, Craessaerts K, De Bock P-J, Swerts J, Vilain S, Aerts L, Overbergh L, Grünewald A, Seibler P, Klein C, Gevaert K, Verstreken P, De Strooper B. PINK1 loss of function mutations affect Complex I activity via NdufA10 ubiquinone uncoupling. Science 2014;344:203-207.
  5. Erogullari A, Hollstein R, Seibler P, Braunholz D, Koschmidder E, Depping R, Eckhold J, Lohnau T, Gillessen-Kaesbach G, Grünewald A, Rakovic A, Lohmann K, Kaiser FJ. THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression. Biochim Biophys Acta. 2014;1839:1196-204.
  6. Munsie LN, Milnerwood AJ, Seibler P, Beccano-Kelly DA, Tatarnikov I, Khinda J, Volta M, Kadgien C, Cao LP, Tapia L, Klein C, Farrer MJ. Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson’s Disease VPS35 mutation p.D620N. Hum Mol Genet. 2015;24:1691-703.
  7. Rakovic A, Seibler P, Klein C. iPS models of Parkin and PINK1. Biochem Soc Trans. 2015;43:302-307.
  8. Capetian P, Azmitia L, Pauly MG, Krajka V, Stengel F, Bernhardi EM, Klett M, Meier B, Seibler P, Stanslowsky N, Moser A, Knopp A, Gillessen-Kaesbach G, Nikkhah G, Wegner F, Döbrössy M, Klein C. Plasmid-Based Generation of Induced Neural Stem Cells from Adult Human Fibroblasts. Front Cell Neurosci. 2016;10:245.
  9. Vos M, Geens A, Böhm C, Deaulmerie L, Swerts J, Rossi M, Craessaerts K, Leites EP, Seibler P, Rakovic A, Lohnau T, De Strooper B, Fendt SM, Morais VA, Klein C, Verstreken P. Cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiency. J Cell Biol. 2017;216:695-708.
  10. Grütz K, Seibler P, Weissbach A, Lohmann K, Carlisle FA, Blake DJ, Westenberger A, Klein C, Grünewald A. Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia. Sci Reports. 2017;7:41156.
  11. Zanon A, Kalvakuri S, Rakovic A, Foco L, Guida M, Schwienbacher C, Serafin A, Rudolph F, Trilck M, Grünewald A, Stanslowsky N, Wegner F, Giorgio V, Lavdas AA, Bodmer R, Pramstaller PP, Klein C, Hicks AA, Pichler I, Seibler P. SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila. Hum Mol Genet. 2017;26:2412-2425.
  12. Pauly MG, Krajka V, Stengel F, Seibler P, Klein C, Capetian P. Adherent vs. Free-Floating Neural Induction by Dual SMAD Inhibition for Neurosphere Cultures Derived from Human Induced Pluripotent Stem Cells. Front Cell Dev Biol. 2018;6:3.
  13. Valadas JS, Esposito G, Vandekerkhove D, Miskiewicz K, Deaulmerie L, Raitano S, Seibler P, Klein C, Verstreken P. ER Lipid Defects in Neuropeptidergic Neurons Impair Sleep Patterns in Parkinson’s Disease. Neuron 2018;98:1155-1169.e6.
  14. Capetian P, Stanslowsky N, Bernhardi E, Grütz K, Domingo A, Brüggemann N, Naujock M, Seibler P, Klein C, Wegner F. Altered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients. Exp Neurol. 2018;308:47-58.
  15. Vulinovic F, Krajka V, Hausrat TJ, Seibler P, Alvarez-Fischer D, Madoev H, Park JS, Kumar KR, Sue CM, Lohmann K, Kneussel M, Klein C, Rakovic A. Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants. Hum Mutat. 2018;39:1901-1915.
  16. Rakovic A, Domingo A, Grütz K, Kulikovskaja L, Capetian P, Cowley SA, Lenz I, Brüggemann N, Rosales R, Jamora D, Rolfs A, Seibler P, Westenberger A, König I, Klein C. Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism. Mov Disord. 2018;33:1108-1118.
  17. Seibler P, Burbulla LF, Dulovic M, Zittel S, Heine J, Schmidt T, Rudolph F, Westenberger A, Rakovic A, Münchau A, Krainc D, Klein C. Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells. Brain 2018;141:3052-3064.
  18. Baumann H, Jahn M, Muenchau A, Trilck-Winkler M, Lohmann K, Seibler P. Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers. Stem Cell Res. 2018;33:60-64.
  19. Dulovic-Mahlow M, Lukomska A, Diaw SH, Balck A, Borsche M, Grütz K, Lenz I, Rudolph F, Lohmann K, Klein C, Seibler P. Generation and characterization of human-derived iPSC lines from three pairs of monozygotic twins discordant for Parkinson’s disease. Stem Cell Res. 2019;41:101629.
  20. Seibler P, Klein C. ‘iPSC-derived dopaminergic neurons for Parkinson’s disease’ in Reis RL and Gomes ME (Eds.) Encyclopedia of Tissue Engineering and Regenerative Medicine. 2019;2:483–492. Academic Press: Elsevier.
  21. Cascalho A, Foroozandeh J, Hennebel L, Swerts J, Klein C, Rous S, Dominguez Gonzalez B, Pisani A, Meringolo M, Gallego SF, Verstreken P, Seibler P, Goodchild RE. Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia. Brain. 2020;143:1746-1765.
  22. Robert J, Weilinger NL, Zao LP, Cataldi S, Button EB, Stukas S, Martin EM, Seibler P, Gilmour M, Caffrey TM, Rowe EM, Fan J, MacVicar B, Farrer M, Wellington CL. An in vitro bioengineered model of the human arterial neurovascular unit to study neurodegenerative diseases. Mol Neurodegener. 2020;15:70.
  23. Tran F, Klein C, Arlt A, Imm S, Knappe E, Simmons A, Rosenstiel P, Seibler P. Stem cells and organoid technology in precision medicine in inflammation: Are we there yet? Frontiers Immunology. 2020;11:573562.
  24. Rakovic A, Weissbach A, Seibler P, Klein C. ‘iPSCs for Modeling of X-linked dystonia-parkinsonism’ in Birbrair A (Ed.) iPSCs for Modeling Central Nervous System Disorders, 2021;6:239-250. Academic Press: Elsevier.
  25. Trilck-Winkler M, Borsche M, König IR, Balck A, Lenz I, Kasten M, Lohmann K, Brockmann K, Valente EM, Klein C, Brüggemann N, Seibler P. Parkin deficiency appears not to be associated with cardiac damage in Parkinson’s disease. Mov Disord. 2021;36:271-273.
  26. Baumann H, Weber J, Busch H, Trilck-Winkler M, Münchau A, Zittel S, Kostić VS, Kaiser FJ, Klein C, Seibler P, Lohmann K. Linking penetrance and transcription in DYT-THAP1: Insights from a human iPSC-derived cortical model. Mov Disord. 2021;36:1381-1391.
  27. Kutschenko A, Staege S, Grütz K, Glaß H, Kalmbach N, Gschwendtberger T, Henkel LM, Heine J, Grünewald A, Hermann A, Seibler P, Wegner F. Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons. Int J Mol Sci. 2021;22:3565.
  28. Staege S, Kutschenko A, Baumann H, Glaß H, Henkel L, Gschwendtberger T, Kalmbach N, Klietz M, Hermann A, Lohmann K, Seibler P, Wegner F. Reduced expression of GABAA receptor alpha2 subunit is associated with disinhibition of DYT-THAP1 dystonia patient-derived striatal medium spiny neurons. Front Cell Dev Biol. 2021;9:650586.
  29. Streubel-Gallasch L, Giusti V, Sandre M, Tessari I, Plotegher N, Giusto E, Masato A, Iovino L, Battisti I, Arrigoni G, Shimshek D, Greggio E, Tremblay ME, Bubacco L, Erlandsson A, Civiero L. Parkinson’s Disease-Associated LRRK2 Interferes with Astrocyte-Mediated Alpha-Synuclein Clearance. Mol Neurobiol. 2021;58:3119-3140.
  30. Krajka V, Naujock M, Pauly MG, Stengel F, Meier B, Stanslowsky N, Klein C, Seibler P, Wegner F, Capetian P. Ventral Telencephalic Patterning Protocols for Induced Pluripotent Stem Cells. Front Cell Dev Biol. 2021;9:716249.
  31. Jarazo J, Barmpa K, Modamioa J, Saraiva C, Sabaté-Soler S, Rosety I, Griesbeck A, Skwirblies F, Zaffaroni G, Smits LM, Arias-Fuenzalida J, Walter J, Gomez-Giro G, Monzel AS, Qing X, Vitali A, Crucianic G, Boussaad I, Brunelli F, Jäger C, Rakovic A, Berger E, Arena G, Bolognin S, Schmidt R, Schröder C, Antony PMA, Klein C, Krüger R, Seibler P, Schwamborn JC. Parkinson’s disease phenotypes in patient brain organoids improved by HP-beta-CD treatment. Mov Disord. 2022;37:80-94.
  32. Pozojevic J, Algodon SM, Cruz JN, Trinh J, Brüggemann N, Laß J, Grütz K, Schaake S, Tse R, Yumiceba V, Kruse N, Schulz K, Sreenivasan VKA, Rosales RL, Jamora RDG, Diesta CCE, Matschke J, Glatzel M, Seibler P, Händler K, Rakovic A, Kirchner H, Spielmann M, Kaiser FJ, Klein C, Westenberger A. Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon. Int J Mol Sci. 2022;23:2231.
  33. Wasner K, Smajic S, Ghelfi J, Delcambre S, Prada-Medina CA, Knappe E, Arena G, Mulica P, Agyeah G, Rakovic A, Boussaad I, Badanjak K, Ohnmacht J, Gérardy JJ, Takanashi M, Trinh J, Mittelbronn M, Hattori N, Klein C, Antony P, Seibler P, Spielmann M, Pereira SL, Grünewald A. Parkin Deficiency Impairs Mitochondrial DNA Dynamics and Propagates Inflammation. Mov Disord. 2022;37:1405-1415.
  34. Wasner K, Smajic S, Ghelfi J, Delcambre S, Prada-Medina CA, Knappe E, Arena G, Mulica P, Agyeah G, Rakovic A, Boussaad I, Badanjak K, Ohnmacht J, Gérardy JJ, Takanashi M, Trinh J, Mittelbronn M, Hattori N, Klein C, Antony P, Seibler P, Spielmann M, Pereira SL, Grünewald A. Parkin Deficiency Impairs Mitochondrial DNA Dynamics and Propagates Inflammation. Mov Disord. 2022;37:1405-1415.
  35. Chemla A, Arena G, Saraiva C, Berenguer-Escuder C, Grossmann D, Grünewald A, Klein C, Seibler P, Schwamborn JC, Krüger R. Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson’s disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1. Stem Cell Res. 2023;69:103085.
  36. Aleknonytė-Resch M, Trinh J, Leonard H, Delcambre S, Leitão E, Lai D, Smajić S, Orr-Urtreger A, Thaler A, Blauwendraat C, Sharma A, Makarious MB, Kim JJ, Lake J, Rahmati P, Freitag-Wolf S, Seibler P, Foroud T, Singleton AB; International Parkinson Disease Genomics Consortium; Grünewald A, Kaiser F, Klein C, Krawczak M, Dempfle A. Genome-wide case-only analysis of gene-gene interactions with known Parkinson’s disease risk variants reveals link between LRRK2 and SYT10. NPJ Parkinsons Dis. 2023;9:102.
  37. Grossmann D, Malburg N, Glaß H, Weeren V, Sondermann V, Pfeiffer JF, Petters J, Lukas J, Seibler P, Klein C, Grünewald A, Hermann A. Mitochondria-Endoplasmic Reticulum Contact Sites Dynamics and Calcium Homeostasis Are Differentially Disrupted in PINK1-PD or PRKN-PD Neurons. Mov Disord. 2023;38:1822-1836.
  38. Diaw SH, Borsche M, Streubel-Gallasch L, Dulovic-Mahlow M, Hermes J, Lenz I, Seibler P, Klein C, Brüggemann N, Vos M, Lohmann K. Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s disease. NPJ Parkinsons Dis. 2023;9:148.
  39. Knappe E, Rudolph F, Klein C, Seibler P. Cytokine Profiling in Human iPSC-Derived Dopaminergic Neuronal and Microglial Cultures. Cells. 2023;12:2535.
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