Personen

Dr. rer. nat. Sabine Jung-Klawitter

Arbeitsgruppenleiterin (AG Seltenen Erkrankungen der Neurotransmitter- und Kofaktorbiosynthese)
Arbeitsgruppenleiterin (AG Organoazidopathien)

Schwerpunkt

Modellierung seltener Stoffwechselerkrankungen in iPS-Zellen


06221 56-39586

Wissenschaftlicher Werdegang

seit 2015

Dietmar-Hopp Metabolic Centre, University Hospital Heidelberg; Heidelberg, Germany

PI Neurotransmitter group

 

2008 – 2015

Paul-Ehrlich-Institute, Langen, Germany; Post-doctoral Research Fellow

2007 – 2008

Centre for Molecular Biology Heidelberg (ZMBH); Heidelberg, Germany; Post-Doctoral Research Fellow

2007

PhD; University of Mainz / Institute of Pharmacology and Toxicology (Goethe University; Frankfurt/Main) / Institute of Pharmacology, University of Bern ("Regulation of sphingosinkinase 1 and 2 and of neutral ceramidase in rat renal mesangial cells”)

2003

University Diploma; University of Mainz (“Molecular characterization of the globin genes of Drosophila pseudoobscura, Anopheles gambiae and Apis mellifera carnica”)

Auszeichnungen

2018

SSADH Innovationspreis

Stipendien

2006 Awardee of the University of Switzerland, Bern

2007 Awardee of the Centre of Molecular Biology (ZMBH), Heidelberg

2011 LOEWE-Center for Cell and Gene Therapy; Research Grant

2012 LOEWE-Center for Cell and Gene Therapy; Research Grant

2013 LOEWE-Center for Cell and Gene Therapy; Research Grant

2017 Olympia Morata State Doctorate Program; University Hospital Heidelberg

Mitgliedschaften

ISCCR (International Society for Stem Cell Research);
GSCN (German Stem Cell Network);
SSIEM (Society for the study of inborn errors of metabolism);
vdbiol (Verein der deutschen Biologen)

Ausgewählte Publikationen

Didiášová, M, Banning, A, Brennenstuhl, H, Jung-Klawitter, S, Cinquemani, C, Opladen, T, Tikkanen, R (2020). Succinic Semialdehyde Dehydrogenase deficiency: an update. Cells 2020 Feb. 19; 9:477. doi: 10.3390/cells9020477.

Wagner, M, Lévy J, Jung-Klawitter, S, Bakthiari, S, Monterio, F, Maroofian, r, Bierhals, T, Hempel, M, Elmaleh-Bergès, M, Krajima, JP, Kim CA, Salomao, JG, Amor, DJ,  Cooper, MS, Perrin, L, Pipiras, E, Neu, A, Doosti, M, Karimiani, EG, Toosi, MB, Houlden, H, Jin, SC, Si YC, Rodan, LH, Venselaar, H, Kruer, MC, Kok, F, Hoffmann, GF, Strom, TM, Wortmann, SB, Tabet, AC, Opladen, t (2020.Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonos. Genet. Med. 2020 22:1061-68. doi: 10.1038/s41436-020-0768-7.

Jung-Klawitter, S, Hübschmann OK (2019). Analysis of catecholamines in inborn errors of neurotransmitter metabolism – from past to future. Cells 2019 Aug 9; 8(8). Pii E867. doi:10.3390/cells8080867.

Lenz, D, Staufner, C, Wächter, S, Hagedorn, M, Ebersold, J, Göhring, G, Kölker, S, Hoffmann, GF, Jung-Klawitter, S (2019). Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1. Stem Cell Res. 2019 May; 37:101428. doi: 10.1016/j.scr.2019.101428.

Jung-Klawitter, S, Wächter, S, Hagedorn, M, Ebersold, J, Göhring, G, Opladen, T (2019). Generation of 2 iPSC clones from a patient with DNAJC12 deficiency: DHMCi003-A and DHMCi003-B. Stem Cell Res. 2019 Apr; 36:101402. doi: 10.1016/j.scr.2019.101402.

Lenz, D, Staufner, C, Wächter, S, Hagedorn, M, Ebersold, J, Göhring, G, Kölker, S, Hoffmann, GF, Jung-Klawitter, S (2019). Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A. Stem Cell Res. 2019 Mar; 35:101398. doi: 10.1016/j.scr.2019.101398.

Brennenstuhl, H, Jung-Klawitter, S, Assmann, B, Opladen, T (2018). Inherited Disorders of Neurotransmitters: classification and practical approaches for diagnosis and treatment. Neuropediatrics. 2019 Feb;50(1):2-14. doi: 10.1055/s-0038-1673630.

Jung-Klawitter, S, Opladen, T (2018). Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism. J Inherit Metab Dis. 2018 Nov;41(6):1103-1116. doi: 10.1055/s-0038-1673630.

Jung-Klawitter, S, Ebersold, J, Göhring, G, Blau, N, Opladen, T (2017). Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1. Stem Cell Res. 20:38-47. doi: 10.1016/j.scr.2017.02.010.

Jung-Klawitter, S, Blau, N, Sebe, A, Ebersold, J, Göhring, G, Opladen, T (2016). Generation of an iPSC line from a patient with tyrosine hydroxylase deficiency. Stem Cell Res. 17(3): 580-83. doi: 10.1016/j.scr.2016.10.008

Pan, Y, Shen, N, Jung-Klawitter, S, Betzen, C, Hoffmann, G, Hoheisel, J, Blau, N (2016). CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model. Sci Rep. 6:35794. doi: 10.1038/srep35794.

Opladen, T, Cortès-Saladelafont, E, Mastrangelo, M, Horvath, G, Pons, R, Lopez-Laso, E, Fernández-Ramos, JA, Honzik, T, Pearson, T, Friedman, J, Scholl-Bürgi, S, Wassenberg, T, Jung-Klawitter, S, Kuseyri, O, Jeltsch, K, Kurian, MA, Garcia-Cazorla, A (2016). The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders. Mol. Genet. Metab. Reports 9:61-66. doi: 10.1016/j.ymgmr.2016.09.006.

Trunzo, R, Santacroce, R, Shen, N, Jung-Klawitter, S, Leccese, A, De Girolamo, G, Margaglione, M, Blau, N (2016). In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU. Gene 594(1):138-143. doi: 10.1016/j.gene.2016.09.015.

Friedel, T, Jung-Klawitter, S, Sebe, A, Schenk, F, Modlich, U, Ivics, Z, Schumann, GG, Buchholz, CJ, and Schneider, IC (2016). CD30 receptor- targeted lentiviral vectors for human induced pluripotent stem cell-specific gene modification. Stem Cells Dev. 25(9):729-739. doi: 10.1089/scd.2015.0386.

Klawitter, S, Fuchs, NV, Upton, KR, Munoz-Lopez, M, Shukla, R, Wang, J, Garcia-Canadas, M, Lopez-Ruiz, C,  M, Gerhardt, DJ, Sebe, A, Grabundzija, I, Merkert, S, Gerdes, P, Pulgarin, A, Bock, A, Held, U, Witthun, A, Haase, A, Sarkadi, B, Löwer, J, Wolvetang, EJ, Martin, U, Ivics, Z, Izsvak, Z, Garcia-Perez, JL, Faulkner, GJ, and Schumann, GG (2016). Reprogramming triggers endogenous L1 and Alu retrotransposition in human induced pluripotent stem cells. Nat. Commun 7:10286. doi: 10.1038/ncomms10286.

Patente

Schneider, I, Buchholz, C, Klawitter, S, Schumann, GG: Novel pseudotyped lentiviral particles and their use for in vitro targeted transduction of undifferentiated pluripotent human embryonic stem cells and induced pluripotent stem cells