Name: Karen Grütz, nee Freimann Position/Title: Postdoctoral fellow/PhD Address: Institute of Neurogenetics, University of Lübeck Ratzeburger Allee 160, 23562 Lübeck, Germany Phone: +49-451-31018232 Fax: +49-451-31018204 Email: k.gruetz@uni-luebeck.de

10/2006 – 09/2009: Studies of Molecular Life Science at the University of Lübeck, Lübeck, Germany

09/2007: Internship Molecular organogenesis of Drosophila tracheal system, Prof. R. Schuh, Max-Planck Institute for Biophysical Chemistry, Göttingen, Germany

09/2008 – 10/2008: Internship Genetics of movement disorders, Prof. C. Klein, Section of Clinical and Molecular Neurogenetics, University of Lübeck, Lübeck, Germany

04/2009 – 09/2009: Bachelor thesis (BSc) Mutationsanalyse des DYT16-Gens bei Dystoniepatienten, Department of Neurology (Director: Prof. D. Kömpf), Section of Clinical and Molecular Neurogenetics (Prof. C. Klein) University of Lübeck, Lübeck, Germany

10/2009 – 11/2011: Studies of Molecular Life Science at the University of Lübeck, Lübeck, Germany

10/2009 – 11/2011: Master thesis (MSc) Towards understanding the genetic causes of X-linked dystonia-parkinsonism and Parkinson´s disease, Department of Neurology (Director: Prof. T. Münte), Section of Clinical and Molecular Neurogenetics (Prof. C. Klein) University of Lübeck, Lübeck, Germany

08/2010 – 11/2010: Internship Kinetic characterization of porcine ST3Gal-I-Sialyltransferase, Prof. S. Withers, Department of Chemistry, University of British Columbia, Vancouver, Canada

12/2010 – 02/2011: Internship Mapping of BVDV NS5A regions important for pestiviral virus morphogenesis, Prof. N. Tautz, Institute of Virology and Cell Biology, University of Lübeck, Lübeck, Germany

01/2012 – 04/2017: Doctoral thesis (Dr. rer. nat.; PhD) Towards unraveling the pathogenesis of dystonia: Genetic analyses and functional characterization of cellular models, Institute of Neurogenetics (Prof. C. Klein, PD Dr. Ana Westenberger), University of Lübeck, Lübeck, Germany

05/2017 – present: Postdoctoral fellow, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany

09/2019 – present: Project Manager and Coordinator of FOR 2488

2012: Travel grant from the Movement Disorder Society

2012: Travel grant from Seahorse Bioscience

2013: Award for the best poster (Session: Experimental Neurology II – Cell Models of Neurological Diseases) at the 86. Annual meeting of the German Society of Neurolog
2013: Award for the best poster (Session: Experimental Neurology II – Cell Models of Neurological Diseases) at the 86. Annual meeting of the German Society of Neurology

2013: Travel grant from the GlaxoSmithKline Foundation

2015: Travel stipend from the German Academic Exchange Service (Deutscher Akademischer Austauschdienst, DAAD)

2016: Travel grant from the GlaxoSmithKline Foundation

2019: Travel grant from the Movement Disorder Society

2023: Travel grant from the Dystonia Medical Research Foundation (DMRF) and Dystonia Europe (DE)

2023: Selected for Top Abstract Program; presentation at the International Congress of Parkinson’s Disease and Movement Disorders in Copenhagen, Denmark, August 27 – 31, 2023

“Elucidating the molecular and cellular basis of α-sarcoglycan-associated myoclonus-dystonia: Insights from genetics and an iPSC-derived neuronal model”Principal Investigator: Karen Grütz
Funding agency: University of Lübeck Intramural funding
Funding period: 2019-2020
Amount: € 69,180.00

“Variable expressivity in SGCE-associated myoclonus dystonia: Insights from epigenetics and transcriptomics”

Principal Investigators: Karen Grütz, Anne Grünewald and Christine Klein
Funding agency: Dystonia Medical Research Foundation
Funding period: 2019-2020
Amount: US$ 74,540.00

Journals

  • Movement Disorders
  • Annals of Neurology

Grants

  • Dystonia Medical Research Foundation (DMRF)

Lectures

  • Biologische Grundlagen for BMT and UIM at the Technische Hochschule Lübeck (since 2023)
  1. 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 V,  Rosales RL, Jamora RD, Diesta CC, Matschke J, Glatzel M, Kirchner H, Seibler P,  Händler K, Rakovic A, 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.
  2. Capponi S, Stöffler N, Penney EB, Grütz K, Nizamuddin S, Vermunt MW, Castelijns B, Fernandez-Cerado C, Legarda GP, Velasco-Andrada MS, Muñoz EL, Ang MA, Diesta CCE, Creyghton MP, Klein C, Bragg DC, De Rijk P, Timmers HTM. Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism. Brain Communications 2021;4:fcab253.
  3. Reyes CJ, Laabs BH, Schaake S, Lüth T, Ardicoglu R, Rakovic A, Grütz K, Alvarez-Fischer D, Jamora RD, Rosales RL, Weyers I, König IR, Brüggemann N, Klein C, Dobricic V, Westenberger A, Trinh J. Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing. Neurol Genet 2021;4:e608.
  4. Laabs BH, Klein C, Pozojevic J, Domingo A, Brüggemann N, Grütz K, Rosales RL, Jamora RD, Saranza G, Diesta CCE, Wittig M, Schaake S, Dulovic-Mahlow M, Quismundo J, Otto P, Acuna P, Go C, Sharma N, Multhaupt-Buell T, Müller U, Hanssen H, Kilpert F, Franke A, Rolfs A, Bauer P, Dobričić V, Lohmann K, Ozelius LJ, Kaiser FJ, König IR, Westenberger A. Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. Nat Commun 2021;1:3216.
  5. 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;7
  6. Grütz K, Klein C. Dystonia updates: definition, nomenclature, clinical classification, and etiology. J Neural Transm (Vienna) 2021;4:395-404.
  7. Krause C, Schaake S, Grütz K, Sievert H, Reyes CJ, König IR, Laabs BH, Jamora RD, Rosales RL, Diesta CCE, Pozojevic J, Gemoll T, Westenberger A, Kaiser FJ, Klein C, Kirchner H. DNA Methylation as a Potential Molecular Mechanism in X-linked Dystonia-Parkinsonism. Mov Disord 2020;12:2220-2229.
  8. Balck A, Borsche M, Grütz K, Brüggemann N, Westenberger A, Klein C, Alvarez-Fischer D. Don't do harm by diagnosis – An abnormal cranial CT: Still fa(h)r from a disease. Parkinsonism Relat Disord 2020:116-118.
  9. Saranza G, Grütz K, Klein C, Westenberger A, Lang AE. Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia. Brain 2020;5:e36.
  10. Stengel F, Vulinovic F, Meier B, Grütz K, Klein C, Capetian P. Impaired differentiation of human induced neural stem cells by TOR1A overexpression. Mol Biol Rep 2020;5:3993-4001.
  11. Schiemenz C, Westenberger A, Tanzer K, Grütz K, Borsche M, Mahlke G, Schaake S, Rakovic A, Aherrahrou Z, Erdmann J, Klein C, Alvarez-Fischer D. Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification. Brain 2019;1:e1.
  12. 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 2019:101629.
  13. Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C. A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism. Ann Neurol 2019;6:812-822.
  14. 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;7:1108-1118.
  15. 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 2018:47-58.
  16. Tunc S, Brüggemann N, Baaske MK, Hartmann C, Grütz K, Westenberger A, Klein C, Münchau A, Bäumer T. Facial twitches in ADCY5-associated disease – Myokymia or myoclonus? An electromyography study. Parkinsonism Relat Disord 2017:73-75.
  17. 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 Rep 2017:41156.
  18. Westenberger A, Max C, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VSC, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C. Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. J Pediatr 2016:306-308.e1.
  19. Mišković ND, Domingo A, Dobričić V, Max C, Braenne I, Petrović I, Grütz K, Pawlack H, Tournev I, Kalaydjieva L, Svetel M, Lohmann K, Kostić VS, Westenberger A. Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia. Mov Disord 2016;12:1929-1931.
  20. Grütz K, Volpato CB, Domingo A, Alvarez-Fischer D, Gebert U, Schifferle G, Buffone E, Wszolek ZK, Rademakers R, Ferbert A, Hicks AA, Klein C, Pramstaller PP, Westenberger A. Primary familial brain calcification in the ‘IBGC2' kindred: All linkage roads lead to SLC20A2. Mov Disord 2016;12:1901-1904.
  21. Domingo A, Amar D, Grütz K, Lee LV, Rosales R, Brüggemann N, Jamora RD, Cutiongco-Dela Paz E, Rolfs A, Dressler D, Walter U, Krainc D, Lohmann K, Shamir R, Klein C, Westenberger A. Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism. Cell Mol Life Sci 2016;16:3205-3215.
  22. Domingo A, Westenberger A, Lee LV, Brænne I, Liu T, Vater I, Rosales R, Jamora RD, Pasco PM, Cutiongco-Dela Paz EM, Freimann K, Schmidt TG, Dressler D, Kaiser FJ, Bertram L, Erdmann J, Lohmann K, Klein C. New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3). Eur J Hum Genet 2015;10:1334-1340.
  23. Domingo A, Lee LV, Brüggemann N, Freimann K, Kaiser FJ, Jamora RD, Rosales RL, Klein C, Westenberger A. Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women? JAMA Neurol 2014;9:1177-1180.
  24. Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A. Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurol 2014;4:490-494.
  25. Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C. Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. J Neurol 2013;1:207-212.
  26. Freimann K, Zschiedrich K, Brüggemann N, Grünewald A, Pawlack H, Hagenah J, Lohmann K, Klein C, Westenberger A. Mortalin mutations are not a frequent cause of early-onset Parkinson disease. Neurobiol Aging 2013;11:2694.e19-20.
  27. Westenberger A, Rosales RL, Heinitz S, Freimann K, Lee LV, Jamora RD, Ng AR, Domingo A, Lohmann K, Walter U, Gölnitz U, Rolfs A, Nagel I, Gillessen-Kaesbach G, Siebert R, Dressler D, Klein C. X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome. Mov Disord 2013;5:675-678.
  28. Rakic B, Rao FV, Freimann K, Wakarchuk W, Strynadka NC, Withers SG. Structure-based mutagenic analysis of mechanism and substrate specificity in mammalian glycosyltransferases: porcine ST3Gal-I. Glycobiology 2013;5:536-545.