Sabine Hofmann

Summary

Affiliation: University of Munich
Country: Germany

Publications

  1. ncbi request reprint Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin
    Sabine Hofmann
    Institute of Diabetes Research, Academic Hospital Munich Schwabing, Koelner Platz 1, D 80804 Munich, Germany
    FEBS Lett 580:4000-4. 2006
  2. ncbi request reprint Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product
    Sabine Hofmann
    Institut fur Diabetesforschung, Akademisches Lehrkrankenhaus Muenchen Schwabing, Koelner Platz 1, 80804 Muenchen, Germany
    Hum Mol Genet 12:2003-12. 2003
  3. ncbi request reprint Functional and mutational characterization of human MIA40 acting during import into the mitochondrial intermembrane space
    Sabine Hofmann
    Institute of Diabetes Research, Academic Hospital Munich Schwabing, Koelner Platz 1, D 80804 Munich, Germany
    J Mol Biol 353:517-28. 2005
  4. ncbi request reprint Organization and function of the small Tim complexes acting along the import pathway of metabolite carriers into mammalian mitochondria
    Nicole Mühlenbein
    Institut fur Diabetesforschung, Akademisches Krankenhaus München Schwabing, Kolner Platz 1, D 80804 München, Germany
    J Biol Chem 279:13540-6. 2004
  5. ncbi request reprint The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space
    Sabine Hofmann
    Institut fur Klinische Chemie, Molekulare Diagnostik und Mitochondriale Genetik, Institut für Diabetesforschung und Metabolic Disease Center München Schwabing, Akademisches Lehrkrankenhaus München Schwabing, Koelner Platz 1, München 80804, Germany
    J Biol Chem 277:23287-93. 2002
  6. ncbi request reprint The molecular basis of the Rhesus antigen Ew
    Erwin Strobel
    Institute for Medical Microbiology, Immunology and Hygiene, Academic Hospital Munich Schwabing, Kölner Platy 1, D 80804 Munich, Germany
    Transfusion 44:407-9. 2004
  7. ncbi request reprint Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey
    Hideo Yamamoto
    Ophthalmic Biophysics Center, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, P O Box 016880, Miami, FL 33101, USA
    Exp Eye Res 83:1303-6. 2006
  8. ncbi request reprint Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders
    Rosalba Carrozzo
    Unit of Molecular Medicine, Bambino Gesù Hospital and Research Institute, Rome, Italy
    Ann Neurol 59:265-75. 2006
  9. ncbi request reprint Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances
    Stefan H Kreisel
    Department of Neurology, Universitatsklinikum Mannheim, University of Heidelberg, Mannheim, Germany
    Mov Disord 19:1241-3. 2004
  10. ncbi request reprint Significance of respirasomes for the assembly/stability of human respiratory chain complex I
    Hermann Schagger
    Institut fur Biochemie I, Zentrum der Biologischen Chemie, Fachbereich Medizin, Universitat Frankfurt, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany
    J Biol Chem 279:36349-53. 2004

Collaborators

  • U Brandt
  • Walter Neupert
  • Kai Hell
  • Andreas S Reichert
  • Erwin Strobel
  • Matthias F Bauer
  • Hermann Schagger
  • Johannes Binder
  • Rosalba Carrozzo
  • Stéphane Duvezin-Caubet
  • Hideo Yamamoto
  • Stefan H Kreisel
  • Nicole Mühlenbein
  • Michael G Hennerici
  • Johannes C Wohrle
  • Hansjorg Bazner
  • Joachim K Krauss
  • Enrico Bertini
  • Pawel Kreczmanski
  • Ravi Jagasia
  • Duco I Hamasaki
  • Ilka Wittig
  • Christoph Schmitz
  • Aleksandra Trifunovic
  • Nils Goran Larsson
  • Hiroko Yamamoto
  • Anne Chomyn
  • Johannes Wagener
  • Rainald Schmidt-Kastner
  • Giuseppe Attardi
  • Jean Marie Parel
  • Anna Hansson
  • Filippo M Santorelli
  • René de Coo
  • Uli Rothbauer
  • Catherine Godinot
  • Stefan Kreisel

Detail Information

Publications13

  1. ncbi request reprint Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin
    Sabine Hofmann
    Institute of Diabetes Research, Academic Hospital Munich Schwabing, Koelner Platz 1, D 80804 Munich, Germany
    FEBS Lett 580:4000-4. 2006
    ..No wolframin aggregates were found in patient cells suggesting that Wolfram syndrome is not a disease of protein aggregation. Rather, WFS1 mutations cause loss-of-function by cellular depletion of wolframin...
  2. ncbi request reprint Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product
    Sabine Hofmann
    Institut fur Diabetesforschung, Akademisches Lehrkrankenhaus Muenchen Schwabing, Koelner Platz 1, 80804 Muenchen, Germany
    Hum Mol Genet 12:2003-12. 2003
    ..Thus, the Wolfram syndrome in patients investigated here is caused by reduced protein dosage rather than dysfunction of the mutant wolframin...
  3. ncbi request reprint Functional and mutational characterization of human MIA40 acting during import into the mitochondrial intermembrane space
    Sabine Hofmann
    Institute of Diabetes Research, Academic Hospital Munich Schwabing, Koelner Platz 1, D 80804 Munich, Germany
    J Mol Biol 353:517-28. 2005
    ..Taken together, we conclude that the biogenesis and function of MIA40 in the mitochondrial intermembrane space is dependent on redox processes involving conserved cysteine residues...
  4. ncbi request reprint Organization and function of the small Tim complexes acting along the import pathway of metabolite carriers into mammalian mitochondria
    Nicole Mühlenbein
    Institut fur Diabetesforschung, Akademisches Krankenhaus München Schwabing, Kolner Platz 1, D 80804 München, Germany
    J Biol Chem 279:13540-6. 2004
    ..We conclude that different mechanisms and specific requirements for import and insertion of mammalian carrier preproteins have evolved in higher eukaryotes...
  5. ncbi request reprint The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space
    Sabine Hofmann
    Institut fur Klinische Chemie, Molekulare Diagnostik und Mitochondriale Genetik, Institut für Diabetesforschung und Metabolic Disease Center München Schwabing, Akademisches Lehrkrankenhaus München Schwabing, Koelner Platz 1, München 80804, Germany
    J Biol Chem 277:23287-93. 2002
    ..Thus, an assembly defect of DDP1 is the molecular basis of Mohr-Tranebjaerg syndrome in patients carrying the C66W mutation...
  6. ncbi request reprint The molecular basis of the Rhesus antigen Ew
    Erwin Strobel
    Institute for Medical Microbiology, Immunology and Hygiene, Academic Hospital Munich Schwabing, Kölner Platy 1, D 80804 Munich, Germany
    Transfusion 44:407-9. 2004
    ..The Rhesus antigen Ew (ISBT designation 004 011) was first described in 1955. It is defined by a specific antibody, but its molecular genetic basis has not yet been resolved...
  7. ncbi request reprint Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey
    Hideo Yamamoto
    Ophthalmic Biophysics Center, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, P O Box 016880, Miami, FL 33101, USA
    Exp Eye Res 83:1303-6. 2006
    ..Dual dysfunction of wolframin in optic nerve glial cells and retinal ganglion cells may explain the progressive optic nerve atrophy in Wolfram syndrome...
  8. ncbi request reprint Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders
    Rosalba Carrozzo
    Unit of Molecular Medicine, Bambino Gesù Hospital and Research Institute, Rome, Italy
    Ann Neurol 59:265-75. 2006
    ..Methods: We describe biochemically and clinically relevant aspects of mitochondrial ATP synthase, the enzyme that supplies most ATP for the cells energy demand...
  9. ncbi request reprint Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances
    Stefan H Kreisel
    Department of Neurology, Universitatsklinikum Mannheim, University of Heidelberg, Mannheim, Germany
    Mov Disord 19:1241-3. 2004
    ..In the patient presented here, improvement of dystonic symptoms upon treatment with alcohol and GABAergic substances is demonstrated for the first time...
  10. ncbi request reprint Significance of respirasomes for the assembly/stability of human respiratory chain complex I
    Hermann Schagger
    Institut fur Biochemie I, Zentrum der Biologischen Chemie, Fachbereich Medizin, Universitat Frankfurt, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany
    J Biol Chem 279:36349-53. 2004
    ..This dependence of complex I assembly/stability on respirasome formation has important implications for the diagnosis of mitochondrial respiratory chain disorders...
  11. ncbi request reprint Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene
    Johannes Binder
    Department of Neurology, University Hospital Mannheim, University of Heidelberg, Germany
    Brain 126:1814-20. 2003
    ....
  12. ncbi request reprint Import of mitochondrial proteins
    Matthias F Bauer
    Institute of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics and Diabetes Research Group, Academic Hospital Munich Schwabing Kölner Platz, D 80804 München, Germany
    Int Rev Neurobiol 53:57-90. 2002
  13. ncbi request reprint Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphology
    Stéphane Duvezin-Caubet
    Adolf Butenandt Institut für Physiologische Chemie, Ludwig Maximilians Universitat Munchen, Butenandtstrasse 5, 81377 Munchen, Germany
    J Biol Chem 281:37972-9. 2006
    ..We present the hypothesis that this pathway regulates mitochondrial morphology and serves as an early response to prevent fusion of dysfunctional mitochondria with the functional mitochondrial network...