Research Topics
Genomes and Genes | Sabine HofmannSummaryAffiliation: University of Munich Country: Germany Publications
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Publications
Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframinSabine 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...- Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene productSabine 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... - Functional and mutational characterization of human MIA40 acting during import into the mitochondrial intermembrane spaceSabine 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... - The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane spaceSabine 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... - Organization and function of the small Tim complexes acting along the import pathway of metabolite carriers into mammalian mitochondriaNicole 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... - The molecular basis of the Rhesus antigen EwErwin 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... - Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkeyHideo 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... - Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disordersRosalba Carrozzo
Unit of Molecular Medicine, , Rome, Italy
Ann Neurol 59:265-75. 2006.... - Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substancesStefan 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... - Significance of respirasomes for the assembly/stability of human respiratory chain complex IHermann 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... - Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) geneJohannes Binder
Department of Neurology, University Hospital Mannheim, University of Heidelberg, Germany
Brain 126:1814-20. 2003.... - Import of mitochondrial proteinsMatthias F Bauer
Institute of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics and Diabetes Research Group, , , Germany
Int Rev Neurobiol 53:57-90. 2002 - Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphologyStéphane 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...