Prof. Dr. Dr. Robert Steinfeld

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  • 2021 | Journal Article | Research Paper | 
    ​ ​High-grade extracellular vesicles preparation by combined size-exclusion and affinity chromatography​
    Bellotti, C.; Lang, K.; Kuplennik, N.; Sosnik, A. & Steinfeld, R. ​ (2021) 
    Scientific Reports, 11(1) art. 10550​.​ DOI: https://doi.org/10.1038/s41598-021-90022-y 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study​
    Märtner, E. M. C.; Maier, E. M.; Mengler, K.; Thimm, E.; Schiergens, K. A.; Marquardt, T. & Santer, R. et al.​ (2020) 
    Journal of Inherited Metabolic Disease,.​ DOI: https://doi.org/10.1002/jimd.12335 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension​
    Syrbe, S.; Stettner, G. M.; Bally, J.; Borggraefe, I.; Bien, C. I.; Ferfoglia, R. I. & Huppke, P.  et al.​ (2020) 
    Neurology, 94(22) pp. e2290​-e2301​.​ DOI: https://doi.org/10.1212/WNL.0000000000009523 
    ​Details  DOI 
  • 2019 | Journal Article | Research Paper | 
    ​ ​Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases​
    Yambire, K. F. ; Fernandez-Mosquera, L. ; Steinfeld, R. ; Mühle, C.; Ikonen, E.; Raimundo, N.   & Milošević, I. ​ (2019) 
    eLife, 8 art. e39598​.​ DOI: https://doi.org/10.7554/eLife.39598 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder​
    Varvagiannis, K.; Hanquinet, S.; Billieux, M.; De Luca, R.; Rimensberger, P.; Lidgren, M. & Guipponi, M. et al.​ (2018) 
    Neuropediatrics, 49(02) pp. 150​-153​.​ DOI: https://doi.org/10.1055/s-0037-1613681 
    ​Details  DOI 
  • 2018 | Journal Article
    ​ ​Potential Risks to Stable Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Children With Cerebral X-linked Adrenoleukodystrophy​
    Kühl, J.-S.; Kupper, J.; Baqué, H.; Ebell, W.; Gärtner, J. ; Korenke, C. & Spors, B. et al.​ (2018) 
    JAMA Network Open, 1(3) pp. e180769​.​ DOI: https://doi.org/10.1001/jamanetworkopen.2018.0769 
    ​Details  DOI 
  • 2018 | Journal Article
    ​ ​Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia​
    Ohlenbusch, A. ; Jung, K. ; Steinfeld, R. ; Gärtner, J.   & Kettwig, M.​ (2018) 
    Journal of Pediatric Genetics, 07(01) pp. 014​-018​.​ DOI: https://doi.org/10.1055/s-0037-1607341 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)​
    Wambach, J. A.; Stettner, G. M.; Haack, T. B.; Writzl, K.; Škofljanec, A.; Maver, A. & Munell, F. et al.​ (2017) 
    Human Mutation, 38(11) pp. 1477​-1484​.​ DOI: https://doi.org/10.1002/humu.23297 
    ​Details  DOI 
  • 2016 | Journal Article
    ​ ​Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene​
    Stoeck, K.; Psychogios, M. N. ; Ohlenbusch, A. ; Steinfeld, R.   & Schmidt, J. ​ (2016) 
    Journal of Alzheimer's Disease, 51(3) pp. 683​-687​.​ DOI: https://doi.org/10.3233/JAD-150819 
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article | Research Paper
    ​ ​The expanding clinical and genetic spectrum of ATP1A3-related disorders​
    Rosewich, H. ; Ohlenbusch, A. ; Huppke, P. ; Schlotawa, L.; Baethmann, M.; Carrilho, I. & Fiori, S. et al.​ (2014) 
    Neurology, 82(11) pp. 945​-955​.​ DOI: https://doi.org/10.1212/WNL.0000000000000212 
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article | Research Paper | 
    ​ ​Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA​
    Sidhu, N. S.; Schreiber, K.; Proepper, K.; Becker, S. ; Uson, I.; Sheldrick, G. M.   & Gärtner, J.  et al.​ (2014) 
    Acta Crystallographica Section D Biological Crystallography, 70 pp. 1321​-1335​.​ DOI: https://doi.org/10.1107/S1399004714002739 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | 
    ​ ​Choroid plexus transcytosis and exosome shuttling deliver folate into brain parenchyma​
    Grapp, M.; Wrede, A.; Schweizer, M.; Huewel, S.; Galla, H.-J.; Snaidero, N. & Simons, M.  et al.​ (2013) 
    Nature Communications, 4 art. 2123​.​ DOI: https://doi.org/10.1038/ncomms3123 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper | 
    ​ ​Structure and activity of the only human RNase T2​
    Thorn, A.; Steinfeld, R. ; Ziegenbein, M.; Grapp, M.; Hsiao, H.-H.; Urlaub, H.   & Sheldrick, G. M.  et al.​ (2012) 
    Nucleic Acids Research, 40(17) pp. 8733​-8742​.​ DOI: https://doi.org/10.1093/nar/gks614 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper
    ​ ​Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency​
    Grapp, M.; Just, I. A.; Linnankivi, T.; Wolf, P.; Luecke, T.; Haeusler, M. & Gärtner, J.  et al.​ (2012) 
    Brain, 135 pp. 2022​-2031​.​ DOI: https://doi.org/10.1093/brain/aws122 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Research Paper
    ​ ​Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis​
    Reinhardt, K.; Grapp, M.; Schlachter, K.; Brueck, W. ; Gärtner, J.   & Steinfeld, R. ​ (2010) 
    Clinical Genetics, 77(1) pp. 79​-85​.​ DOI: https://doi.org/10.1111/j.1399-0004.2009.01285.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Letter Note
    ​ ​A Novel Mutation of the Arylsulfatase A Gene in Late-Onset Metachromatic Leukodystrophy​
    Schneider, A. ; Hasan, A.; Hirschel, S.; Wilhelm, C.; Kohlhase, J.; Falkai, P.   & Gaertner, J.  et al.​ (2009) 
    The Journal of Clinical Psychiatry, 70(12) pp. 1724​-1725​.​ DOI: https://doi.org/10.4088/JCP.09l05010 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​Structure of Tripeptidyl-peptidase I Provides Insight into the Molecular Basis of Late Infantile Neuronal Ceroid Lipofuscinosis​
    Pal, A.; Kraetzner, R. ; Gruene, T.; Grapp, M.; Schreiber, K.; Gronborg, M. & Urlaub, H.  et al.​ (2009) 
    Journal of biological chemistry, 284(6) pp. 3976​-3984​.​ DOI: https://doi.org/10.1074/jbc.M806947200 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper | 
    ​ ​RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection​
    Henneke, M.; Diekmann, S.; Ohlenbusch, A. ; Kaiser, J.; Engelbrecht, V.; Kohlschuetter, A. & Kraetzner, R.  et al.​ (2009) 
    Nature Genetics, 41(7) pp. 773​-775​.​ DOI: https://doi.org/10.1038/ng.398 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates​
    Steinfeld, R. ; Fuhrmann, J. C. & Gärtner, J. ​ (2006) 
    Journal of Histochemistry and Cytochemistry, 54(9) pp. 991​-996​.​ DOI: https://doi.org/10.1369/jhc.5A6900.2006 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Cathepsin D deficiency is associated with a human neurodegenerative disorder​
    Steinfeld, R. ; Reinhardt, K.; Schreiber, K.; Hillebrand, M.; Kraetzner, R. ; Brück, W.   & Saftig, P.  et al.​ (2006) 
    American journal of human genetics, 78(6) pp. 988​-998​.​ DOI: https://doi.org/10.1086/504159 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article
    ​ ​Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration​
    Kasper, D.; Planells-Cases, R.; Fuhrmann, J. C.; Scheel, O.; Zeitz, O.; Ruether, K. & Schmitt, A. et al.​ (2005) 
    The EMBO Journal, 24(5) pp. 1079​-1091​.​ DOI: https://doi.org/10.1038/sj.emboj.7600576 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article | Research Paper
    ​ ​Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes​
    Steinfeld, R. ; Steinke, H. B.; Isbrandt, D.; Kohlschuetter, A. & Gärtner, J. ​ (2004) 
    Human Molecular Genetics, 13(20) pp. 2483​-2491​.​ DOI: https://doi.org/10.1093/hmg/ddh264 
    ​Details  DOI  PMID  PMC  WoS 

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