R Steinfeld

Summary

Country: Germany

Publications

  1. pmc Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
    Sarah C Grünert
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Freiburg, Germany
    Orphanet J Rare Dis 8:6. 2013
  2. doi request reprint Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency
    M Grapp
    Department of Paediatrics and Paediatric Neurology, University Medical Centre Göttingen, Germany
    Brain 135:2022-31. 2012
  3. doi request reprint [Diagnostics and treatment of neuronal ceroid lipofuscinoses from the viewpoint of neuropediatricians]
    R Steinfeld
    Zentrum Kinderheilkunde und Jugendmedizin, Pädiatrie II mit Schwerpunkt Neuropädiatrie, Georg August Universitat Gottingen, Robert Koch Str 40, 37075, Gottingen, Germany
    Ophthalmologe 107:616-20. 2010
  4. ncbi request reprint Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes
    Robert Steinfeld
    Department of Pediatrics and Pediatric Neurology, University of Gottingen, Gottingen, Germany
    Hum Mol Genet 13:2483-91. 2004
  5. pmc Cathepsin D deficiency is associated with a human neurodegenerative disorder
    Robert Steinfeld
    Department of Pediatrics and Pediatric Neurology, University of Gottingen, Gottingen, Germany
    Am J Hum Genet 78:988-98. 2006
  6. ncbi request reprint Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates
    Robert Steinfeld
    Department of Pediatrics and Pediatric Neurology, University of Gottingen, Germany
    J Histochem Cytochem 54:991-6. 2006
  7. pmc Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism
    Robert Steinfeld
    Department of Pediatrics and Pediatric Neurology, Georg August University Gottingen, Gottingen, Germany
    Am J Hum Genet 85:354-63. 2009
  8. doi request reprint Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis
    Aritra Pal
    Department of Structural Chemistry, University of Gottingen, Tammannstrasse 4, 34077 Göttingen, Germany
    J Biol Chem 284:3976-84. 2009
  9. doi request reprint Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis
    K Reinhardt
    Department of Pediatrics and Pediatric Neurology, University of Gottingen, Gottingen, Germany
    Clin Genet 77:79-85. 2010
  10. ncbi request reprint Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency
    Lars Schlotawa
    Department of Pediatrics and Pediatric Neurology, Georg August University Gottingen, Gottingen, Germany
    Hum Mutat 29:205. 2008

Collaborators

  • Jutta Gartner
  • P Wolf
  • W Bruck
  • Alfried Kohlschütter
  • Gunther Helms
  • Paul Saftig
  • Konstanze Reinhardt
  • Peter Dechent
  • S Grosso
  • Zoltan Lukacs
  • Thomas J Jentsch
  • Hans H Goebel
  • Stephan Storch
  • Sarah C Grünert
  • M Grapp
  • Aritra Pal
  • Lars Schlotawa
  • Dagmar Kasper
  • Kostas Tsiakas
  • Thomas Meissner
  • Daniela Karall
  • Kerstin Walter
  • Hans Georg Koch
  • Martin Lindner
  • Matthias R Baumgartner
  • Jorn Oliver Sass
  • Thorsten Marquardt
  • Melanie Walter
  • Agnes van Teeffelen-Heithoff
  • Regina Ensenauer
  • Claudia Haase
  • Sabine Scholl-Burgi
  • Terttu Suormala
  • Jan P Kraus
  • Karl Otfried Schwab
  • Andrea Superti-Furga
  • Michaela Brunner-Krainz
  • Michael Barth
  • Vassiliki Konstantopoulou
  • Linda De Silva
  • Rene Santer
  • Stephanie Müllerleile
  • Ina Knerr
  • Olaf A Bodamer
  • Skadi Beblo
  • Wolfgang Sperl
  • Julia B Hennermann
  • I A Just
  • T Lucke
  • T Linnankivi
  • M Hausler
  • Stefan Becker
  • George M Sheldrick
  • Abdul R Asif
  • Mads Grønborg
  • Kathrin Schreiber
  • Henning Urlaub
  • Ralph Kraetzner
  • Marcel Grapp
  • Tim Gruene
  • Kurt von Figura
  • Thomas Dierks
  • Uwe Kornak
  • Jens C Fuhrmann
  • Anja Schmitt
  • Rosa Planells-Cases
  • Olaf Scheel
  • Michaela Schweizer
  • Oliver Zeitz
  • Mallorie Poet
  • Klaus Ruether
  • Thomas Braulke
  • Eiki Kominami
  • Kurt Ullrich
  • Junji Ezaki

Detail Information

Publications14

  1. pmc Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
    Sarah C Grünert
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Freiburg, Germany
    Orphanet J Rare Dis 8:6. 2013
    ..Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited...
  2. doi request reprint Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency
    M Grapp
    Department of Paediatrics and Paediatric Neurology, University Medical Centre Göttingen, Germany
    Brain 135:2022-31. 2012
    ....
  3. doi request reprint [Diagnostics and treatment of neuronal ceroid lipofuscinoses from the viewpoint of neuropediatricians]
    R Steinfeld
    Zentrum Kinderheilkunde und Jugendmedizin, Pädiatrie II mit Schwerpunkt Neuropädiatrie, Georg August Universitat Gottingen, Robert Koch Str 40, 37075, Gottingen, Germany
    Ophthalmologe 107:616-20. 2010
    ..At present only symptomatic therapy is available for NCL diseases...
  4. ncbi request reprint Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes
    Robert Steinfeld
    Department of Pediatrics and Pediatric Neurology, University of Gottingen, Gottingen, Germany
    Hum Mol Genet 13:2483-91. 2004
    ..Thus, our functional analyses of CLN2 mutations reveal novel insight into the molecular defect underlying dysfunction of tripeptidyl-peptidase I...
  5. pmc Cathepsin D deficiency is associated with a human neurodegenerative disorder
    Robert Steinfeld
    Department of Pediatrics and Pediatric Neurology, University of Gottingen, Gottingen, Germany
    Am J Hum Genet 78:988-98. 2006
    ..Our studies broaden the group of human neurodegenerative disorders and add new insight into the cellular functions of human cathepsin D...
  6. ncbi request reprint Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates
    Robert Steinfeld
    Department of Pediatrics and Pediatric Neurology, University of Gottingen, Germany
    J Histochem Cytochem 54:991-6. 2006
    ..This article contains online supplemental material at http://www.jhc.org. Please visit this article online to view these materials...
  7. pmc Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism
    Robert Steinfeld
    Department of Pediatrics and Pediatric Neurology, Georg August University Gottingen, Gottingen, Germany
    Am J Hum Genet 85:354-63. 2009
    ..Our studies not only characterize a previously unknown and treatable disorder of early childhood, but also provide new insights into the folate metabolic pathways involved in postnatal myelination and brain development...
  8. doi request reprint Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis
    Aritra Pal
    Department of Structural Chemistry, University of Gottingen, Tammannstrasse 4, 34077 Göttingen, Germany
    J Biol Chem 284:3976-84. 2009
    ..28 disease-causing missense mutations are analyzed in the light of the TPP1 structure providing insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis...
  9. doi request reprint Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis
    K Reinhardt
    Department of Pediatrics and Pediatric Neurology, University of Gottingen, Gottingen, Germany
    Clin Genet 77:79-85. 2010
    ..Our data indicate that patients with clinical signs of late infantile NCL and characteristic ultrastructural inclusions should also be screened for CLN8 mutations independent of their ethnic origin...
  10. ncbi request reprint Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency
    Lars Schlotawa
    Department of Pediatrics and Pediatric Neurology, Georg August University Gottingen, Gottingen, Germany
    Hum Mutat 29:205. 2008
    ..The application of improved functional assays to determine these two molecular parameters of FGE mutants may enable the prediction of the clinical outcome in the future...
  11. ncbi request reprint Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity
    Kostas Tsiakas
    Department of Biochemistry, Children s Hospital, University Hospital Hamburg Eppendorf, Germany
    Glycobiology 14:1C-5C. 2004
    ..The data suggest that mutant p.Asn286Ser CLN2 lacks one oligosaccharide chain resulting in enzymatic inactivation...
  12. ncbi request reprint Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations
    Robert Steinfeld
    Department of Pediatrics, University of Hamburg, Hamburg, Germany
    Am J Med Genet 112:347-54. 2002
    ..In addition, the described performance score system can be applied to other types of neuronal ceroid lipofuscinoses and could be adapted to various other neurodegenerative diseases of childhood...
  13. pmc Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration
    Dagmar Kasper
    Zentrum für Molekulare Neurobiologie, Universitat Hamburg, Hamburg, Germany
    EMBO J 24:1079-91. 2005
    ..There are important medical implications as defects in the H(+)-ATPase and ClC-7 can underlie human osteopetrosis...
  14. ncbi request reprint Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots
    Zoltan Lukacs
    Department of Pediatrics, Metabolic Laboratory, University of Hamburg, Germany
    Clin Chem 49:509-11. 2003