Olaf Riess

Summary

Country: Germany

Publications

  1. pmc A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients
    Katharina Rall
    University Hospital Tuebingen, Department of Obstetrics and Gynecology, Tuebingen, Germany
    Orphanet J Rare Dis 6:32. 2011
  2. ncbi request reprint Spectrum of phenotypes and genotypes in Parkinson's disease
    Olaf Riess
    Department of Medical Genetics, University Tübingen, Calwerstrasse 7, 72074 Tubingen, Germany
    J Neurol 249:III/15-20. 2002
  3. ncbi request reprint SCA3: neurological features, pathogenesis and animal models
    Olaf Riess
    Department of Medical Genetics, University of Tuebingen, Calwerstrasse 7, D 72076 Tuebingen, Germany
    Cerebellum 7:125-37. 2008
  4. ncbi request reprint Therapeutic strategies for Parkinson's disease based on data derived from genetic research
    Olaf Riess
    Department of Medical Genetics, University of Tubingen, Calwer Strasse 7, 72076 Tubingen, Germany
    J Neurol 250:I3-10. 2003
  5. ncbi request reprint A comprehensive genetic study of the proteasomal subunit S6 ATPase in German Parkinson's disease patients
    Claudia Wahl
    Laboratory of Functional Neurogenomics, Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe Seyler Str 3, 72076, Tubingen, Germany
    J Neural Transm 115:1141-8. 2008
  6. doi request reprint In vivo analysis of cone survival in mice
    Susanne C Beck
    Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany
    Invest Ophthalmol Vis Sci 51:493-7. 2010
  7. ncbi request reprint Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease
    Silke Metzger
    Department of Medical Genetics, University of Tubingen, Calwerstrasse 7, 72076, Tubingen, Germany
    Hum Genet 120:285-92. 2006
  8. ncbi request reprint Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence
    Ulrike Bichelmeier
    Department of Medical Genetics, University of Tubingen, D 72076 Tubingen, Germany
    J Neurosci 27:7418-28. 2007
  9. doi request reprint A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers
    Alexandra Kelp
    Institute of Medical Genetics and Applied Genomics, University of Tubingen, 72076 Tubingen, Germany
    J Neurosci 33:9068-81. 2013
  10. doi request reprint Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features
    Matthis Synofzik
    Department of Neurology, Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe Seyler Str 3, D 72076 Tubingen, Germany
    J Med Genet 48:407-12. 2011

Detail Information

Publications106 found, 100 shown here

  1. pmc A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients
    Katharina Rall
    University Hospital Tuebingen, Department of Obstetrics and Gynecology, Tuebingen, Germany
    Orphanet J Rare Dis 6:32. 2011
    ..Several candidate genes have been studied although no single factor has yet been identified. Cases of discordant monozygotic twins suggest that the involvement of epigenetic factors is more likely...
  2. ncbi request reprint Spectrum of phenotypes and genotypes in Parkinson's disease
    Olaf Riess
    Department of Medical Genetics, University Tübingen, Calwerstrasse 7, 72074 Tubingen, Germany
    J Neurol 249:III/15-20. 2002
    ..The recent identification of mutations in three genes involved in protein degradation and aggregation in familial PD does now facilitate the deciphering of other genes involved in the pathogenesis of the disease...
  3. ncbi request reprint SCA3: neurological features, pathogenesis and animal models
    Olaf Riess
    Department of Medical Genetics, University of Tuebingen, Calwerstrasse 7, D 72076 Tuebingen, Germany
    Cerebellum 7:125-37. 2008
    ..Finally, we discuss the current knowledge on the function of normal and dysfunction of altered ataxin-3 and how this translates to the predicted structure of the protein...
  4. ncbi request reprint Therapeutic strategies for Parkinson's disease based on data derived from genetic research
    Olaf Riess
    Department of Medical Genetics, University of Tubingen, Calwer Strasse 7, 72076 Tubingen, Germany
    J Neurol 250:I3-10. 2003
    ....
  5. ncbi request reprint A comprehensive genetic study of the proteasomal subunit S6 ATPase in German Parkinson's disease patients
    Claudia Wahl
    Laboratory of Functional Neurogenomics, Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe Seyler Str 3, 72076, Tubingen, Germany
    J Neural Transm 115:1141-8. 2008
    ..The identification of a genetic link between a regulatory proteasomal subunit and PD further underscores the relevance of disturbed protein degradation in PD...
  6. doi request reprint In vivo analysis of cone survival in mice
    Susanne C Beck
    Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany
    Invest Ophthalmol Vis Sci 51:493-7. 2010
    ....
  7. ncbi request reprint Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease
    Silke Metzger
    Department of Medical Genetics, University of Tubingen, Calwerstrasse 7, 72076, Tubingen, Germany
    Hum Genet 120:285-92. 2006
    ..Although some of the factors have been defined as genetic modifier factors in previous studies, none of the genes encoding GRIK2, TBP, BDNF and ZDHHC17 could be identified as a genetic modifier for HD...
  8. ncbi request reprint Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence
    Ulrike Bichelmeier
    Department of Medical Genetics, University of Tubingen, D 72076 Tubingen, Germany
    J Neurosci 27:7418-28. 2007
    ..These studies indicate that nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3 in vivo...
  9. doi request reprint A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers
    Alexandra Kelp
    Institute of Medical Genetics and Applied Genomics, University of Tubingen, 72076 Tubingen, Germany
    J Neurosci 33:9068-81. 2013
    ..Our results also confirm that DTI are potentially useful correlates of neuropathological changes in TBPQ64 rats and raise hope that DTI imaging could provide a biomarker for SCA17 patients...
  10. doi request reprint Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features
    Matthis Synofzik
    Department of Neurology, Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe Seyler Str 3, D 72076 Tubingen, Germany
    J Med Genet 48:407-12. 2011
    ....
  11. doi request reprint A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats
    Jana Boy
    Medical Genetics, University of Tuebingen, Tuebingen, Germany
    Neurobiol Dis 37:284-93. 2010
    ..Few and small intranuclear aggregates appeared first at the age of 18 months, further supporting the claim that neuronal dysfunction precedes the formation of intranuclear aggregates...
  12. ncbi request reprint Screening for mutations of the HFE gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra
    Nilgün Akbas
    Institute of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    Neurosci Lett 407:16-9. 2006
    ..Future studies are necessary to reveal a possible functional relevance of these mutations for PD. Our results indicate that mutations in the HFE gene are not a common cause for PD with increased iron levels of the SN...
  13. pmc Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice
    Huu Phuc Nguyen
    Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany
    PLoS ONE 8:e62043. 2013
    ....
  14. ncbi request reprint Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)
    Robert Hering
    Department of Medical Genetics, University of Tubingen, Tubingen, Germany
    Hum Mutat 24:321-9. 2004
    ....
  15. doi request reprint Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)
    Jeannette Hübener
    Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany
    Hum Mol Genet 22:508-18. 2013
    ....
  16. ncbi request reprint Functional relevance of ceruloplasmin mutations in Parkinson's disease
    Helmine Hochstrasser
    Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    FASEB J 19:1851-3. 2005
    ..Our studies indicate that altered activity of ceruloplasmin may present a vulnerability factor for iron induced oxidative stress in PD...
  17. ncbi request reprint Genetic analysis of heme oxygenase-1 (HO-1) in German Parkinson's disease patients
    Claudia Funke
    Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Calwerstrasse 7, Tuebingen 72076, Germany
    J Neural Transm 116:853-9. 2009
    ..However, our analyses did not reveal a significant association of these genetic markers in the HO-1 gene with an increased susceptibility to PD...
  18. ncbi request reprint Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias
    Kathrin Grundmann
    Department of Medical Genetics, University of Tubingen, Tubingen, Germany
    Mov Disord 19:1294-7. 2004
    ..We could not detect a mutation in the SGCE gene in any of the 298 patients. Our results suggest that mutations in the SGCE gene cannot be held responsible for other subtypes of primary dystonia...
  19. ncbi request reprint Mutation analysis of the neurofilament M gene in Parkinson's disease
    Rejko Kruger
    Department of Neurology, Neurodegeneration Laboratory, University of Tubingen, Hoppe Seyler Strasse 3, D 72076, Tubingen, Germany
    Neurosci Lett 351:125-9. 2003
    ..However, rare variants of the NF-M gene may act as susceptibility factors for PD and functional analyses of the identified variations are warranted to decipher possible mechanisms in neurodegeneration...
  20. doi request reprint N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation
    Jeannette Hübener
    Department of Medical Genetics, University of Tubingen, 72076 Tubingen, Germany
    Brain 134:1925-42. 2011
    ..Consistent with the disease in humans, gene trap mice develop cytoplasmic inclusion bodies and implicate impaired unfolded protein response in the pathogenesis of spinocerebellar ataxia type 3...
  21. doi request reprint Polyglutamine-induced neurodegeneration in SCA3 is not mitigated by non-expanded ataxin-3: conclusions from double-transgenic mouse models
    Jeannette Hübener
    Department of Medical Genetics, University of Tuebingen, 72076 Tuebingen, Germany
    Neurobiol Dis 38:116-24. 2010
    ....
  22. doi request reprint Genetic analysis of coding SNPs in blood-brain barrier transporter MDR1 in European Parkinson's disease patients
    Claudia Funke
    Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    J Neural Transm 116:443-50. 2009
    ..However, genotyping of 300 PD patients and 302 healthy controls did not reveal a significant association between coding MDR1 gene polymorphisms and PD...
  23. ncbi request reprint CAG repeats in Restless Legs syndrome
    Markus Konieczny
    Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Am J Med Genet B Neuropsychiatr Genet 141:173-6. 2006
    ..Stratification for age, age of onset, sex, peripheral neuropathy, and sporadic or familial RLS revealed no effect. Thus, CAG repeat length in the investigated genes is not a major determinant of idiopathic or familial RLS...
  24. doi request reprint Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds
    Peter Bauer
    Department of Medical Genetics, University of Tubingen, Tubingen, Germany
    J Neurol Neurosurg Psychiatry 81:1229-32. 2010
    ....
  25. doi request reprint LRRK2 guides the actin cytoskeleton at growth cones together with ARHGEF7 and Tropomyosin 4
    Karina Häbig
    Institute of Human Genetics, Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany Institute of Human Genetics, MFT Services, University of Tuebingen, Tuebingen, Germany Electronic address
    Biochim Biophys Acta 1832:2352-67. 2013
    ..Our results reveal a fascinating connection between the neurite outgrowth phenotype of LRRK2 models and the regulation of actin polymerization directing further investigations of LRRK2-related pathogenesis. ..
  26. ncbi request reprint Automated home cage assessment shows behavioral changes in a transgenic mouse model of spinocerebellar ataxia type 17
    Esteban Portal
    Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany
    Behav Brain Res 250:157-65. 2013
    ..g. of therapeutic compounds. ..
  27. doi request reprint Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease
    Anne S Soehn
    Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    Neurogenetics 11:203-15. 2010
    ..Searching for mutations in the periphilin gene, we detected a K69E substitution in two patients of a PD family. Taken together, these findings support for the first time an involvement of periphilin in PD...
  28. ncbi request reprint Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3
    Jana Boy
    Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    Hum Mol Genet 18:4282-95. 2009
    ....
  29. ncbi request reprint Mutation at the SCA17 locus is not a common cause of primary dystonia
    Kathrin Grundmann
    Department of Medical Genetics, University Tübingen, Calwerstrasse 7, 72076 Tubingen, Germany
    J Neurol 251:1232-4. 2004
    ..We did not find any repeat sizes in the pathogenic range. We conclude that the SCA17 repeat expansion is not a common cause of familial and sporadic dystonia...
  30. ncbi request reprint Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
    Ludger Schols
    Department of Neurology, University of Tuebingen, Germany
    Lancet Neurol 3:291-304. 2004
    ..Elucidation of the pathogenesis of SCA hopefully will enable the development of rational therapies for this group of disorders, which currently can only be treated symptomatically...
  31. doi request reprint Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability
    Anastasia Gazou
    Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany
    Am J Med Genet A 161:860-4. 2013
    ..In summary, the patient reported here broadens our knowledge of the phenotypic consequences of deletions of chromosome region Xq22.3-q23 and provides further proof for ACSL4 as an X-linked intellectual disability gene...
  32. ncbi request reprint High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays
    CHRISTOPHER SCHROEDER
    Department of Medical Genetics, University of Tubingen, Calwer Str 7, 72076 Tubingen, Germany
    Breast Cancer Res Treat 122:287-97. 2010
    ..SeqC confirmed the results obtained by GSeq and found an additional 33 sequences changes representing 14 SNVs. In total, 945 kb were screened and the overall turnaround time for each patient took approximately 3 days, including analysis...
  33. ncbi request reprint Further delineation of the association signal on chromosome 5 from the first whole genome association study in Parkinson's disease
    Manu Sharma
    Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tuebingen, Hoppe Seyler Strasse 3, 72076 Tuebingen, Germany
    Neurobiol Aging 30:1706-9. 2009
    ..In conclusion, our study did not lend support to the finding that the reported SNPs are directly influencing the susceptibility to sporadic form of PD at least in our population...
  34. pmc Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1
    Guido Krebiehl
    Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    PLoS ONE 5:e9367. 2010
    ..Although a critical role of DJ-1 in oxidative stress response and mitochondrial function has been recognized, the effects on mitochondrial dynamics and downstream consequences remain to be determined...
  35. doi request reprint Age at onset in Huntington's disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7
    Silke Metzger
    Department of Medical Genetics, University of Tuebingen, Calwerstr 7, 72076, Tubingen, Germany
    Hum Genet 128:453-9. 2010
    ..0050) and was associated with an earlier disease onset of 4 years. Our results further support the important pathophysiological role of autophagy in HD...
  36. doi request reprint Automated behavioral phenotyping reveals presymptomatic alterations in a SCA3 genetrap mouse model
    Jeannette Hübener
    Department of Medical Genetics, University of Tubingen, Tubingen 72076, Germany
    J Genet Genomics 39:287-99. 2012
    ..Here we demonstrate that a detailed characterization even of organ systems that are usually not affected in SCA3 is important for further studies of pathogenesis and required for the preclinical therapeutic studies...
  37. doi request reprint Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease
    Silke Metzger
    Department of Medical Genetics, University of Tuebingen, 72076 Tuebingen, Germany
    Hum Mol Genet 17:1137-46. 2008
    ..We thus provide genetic and functional evidence that the M441-HAP1 polymorphism modifies the AAO of HD...
  38. pmc High-throughput homogeneous mass cleave assay technology for the diagnosis of autosomal recessive Parkinson's disease
    CHRISTOPHER SCHROEDER
    Department of Medical Genetics, University of Tubingen, Tubingen, Germany
    J Mol Diagn 10:217-24. 2008
    ..In conclusion, this is the first study using matrix-assisted laser desorption ionization/time of flight mass spectrometry and homogeneous mass cleave assay for high-throughput mutation screening...
  39. ncbi request reprint The proteasomal subunit S6 ATPase is a novel synphilin-1 interacting protein--implications for Parkinson's disease
    Frank P Marx
    Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    FASEB J 21:1759-67. 2007
    ..Our data suggest a direct interaction of synphilin-1 with the regulatory complex of the proteasome modulating proteasomal function...
  40. doi request reprint A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease
    Rejko Kruger
    Laboratory of Functional Neurogenomics, Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Germany
    Neurobiol Aging 32:548.e9-18. 2011
    ..This largest association study performed to define the role of any gene in the pathogenesis of Parkinson's disease revealed no overall strong association of Omi/HtrA2 variants with PD in populations worldwide...
  41. doi request reprint Microarray expression analysis of human dopaminergic neuroblastoma cells after RNA interference of SNCA--a key player in the pathogenesis of Parkinson's disease
    Karina Häbig
    Department of Medical Genetics, Institute of Human Genetics, University of Tubingen, Germany
    Brain Res 1256:19-33. 2009
    ..The changes observed in the expression profile of dopaminergic neuronal cells following reduction of SNCA expression warrant studies to investigate the role of signaling cascades in familial and idiopathic PD...
  42. pmc The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients
    Silke Metzger
    Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany
    PLoS ONE 8:e68951. 2013
    ..This result affirms the modifying influence of the autophagic pathway on the course of HD, but also suggests population-specific modifying mechanisms in HD pathogenesis. ..
  43. doi request reprint Neurodegeneration and motor dysfunction in a conditional model of Parkinson's disease
    Silke Nuber
    Department of Medical Genetics, University of Tuebingen, D 72076 Tuebingen, Germany
    J Neurosci 28:2471-84. 2008
    ..Furthermore, alpha-syn-associated cytotoxicity is independent of filamentous inclusion body formation in our conditional mouse model...
  44. pmc Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients
    Yu Chun Tsai
    Department of Medical Genetics, University of Tuebingen, Calwerstr 7, Tuebingen, 72076, Germany
    BMC Med Genet 13:48. 2012
    ..Kalirin is a protein crucially involved in spine plasticity and its interaction with huntingtin-associated protein-1 (HAP-1) and a potential protein dysfunction might contribute to spine pathogenesis in HD...
  45. ncbi request reprint Parkinson's disease: one biochemical pathway to fit all genes?
    Rejko Kruger
    Dept of Neurology, University of Tubingen, Hoppe Seyler Str 3, D 72076 Tubingen, Germany
    Trends Mol Med 8:236-40. 2002
    ..Future identification of disease genes is required to confirm this hypothesis, thereby unifying the clinical and genetic heterogeneity of PD, including the common sporadic form of the disease, by one biochemical pathway...
  46. ncbi request reprint Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease
    Frank P Marx
    Department of Neurology, Laboratory of Neurodegeneration, University of Tubingen, Tubingen, Germany
    Hum Mol Genet 12:1223-31. 2003
    ....
  47. doi request reprint Olfactory neuron-specific expression of A30P α-synuclein exacerbates dopamine deficiency and hyperactivity in a novel conditional model of early Parkinson's disease stages
    Silke Nuber
    Department of Medical Genetics, University of Tuebingen, Germany
    Neurobiol Dis 44:192-204. 2011
    ..These modulations of neurotransmission may underlie in part some of the early neuropsychiatric symptoms in PD preceding dysfunction of the nigrostriatal dopaminergic system...
  48. ncbi request reprint 14-3-3 protein is a component of Lewy bodies in Parkinson's disease-mutation analysis and association studies of 14-3-3 eta
    Andreas Ubl
    Department of Medical Genetics, Children s Hospital, University Rostock, Rembrandt Str 16 17, Germany
    Brain Res Mol Brain Res 108:33-9. 2002
    ..In accordance with these findings, there was no staining of substantia nigra Lewy bodies with antibodies specific for the 14-3-3 eta subunit...
  49. ncbi request reprint Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease
    Manu Sharma
    Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Tuebingen, Germany
    Neurobiol Aging 32:2108.e1-5. 2011
    ..However, taking the initial mapping of the PARK3 into account, the role of a population-specific effect warrants consideration in future studies...
  50. ncbi request reprint Identification and functional dissection of localization signals within ataxin-3
    Paul Michel Aloyse Antony
    Medical Genetics, University of Tubingen, Calwerstrasse 7, 72076 Tubingen, Germany
    Neurobiol Dis 36:280-92. 2009
    ..Our findings stress the importance of investigating the mechanisms, which influence the intracellular distribution of ataxin-3 during the pathogenesis of SCA3...
  51. doi request reprint UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays
    CHRISTOPHER SCHROEDER
    Department of Medical Genetics, University of Tubingen, Calwerstr 7, 72076 Tubingen, Germany
    Bioinformatics 29:1562-4. 2013
    ..UPDtool is platform independent, light weight and flexible. Because of its simple input format, UPDtool may also be used with other high-throughput technologies (e.g., next-generation sequencing)...
  52. doi request reprint A novel BACHD transgenic rat exhibits characteristic neuropathological features of Huntington disease
    Libo Yu-Taeger
    Department of Medical Genetics, University of Tuebingen, 72076 Tuebingen, Germany
    J Neurosci 32:15426-38. 2012
    ..Our data demonstrate that this transgenic BACHD rat line may be a valuable model for further understanding the disease mechanisms and for preclinical pharmacological studies...
  53. ncbi request reprint Periphilin is strongly expressed in the murine nervous system and is indispensable for murine development
    Anne S Soehn
    Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    Genesis 47:697-707. 2009
    ..These results point to an indispensable function of periphilin during murine development and an important role in the nervous system, reflected by a strong and tightly regulated expression in the murine brain...
  54. doi request reprint Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization
    Peter Bauer
    Department of Medical Genetics, University of Tubingen, Tubingen, Germany
    Neurogenetics 10:43-8. 2009
    ..As high density tiling arrays are available for the entire human genome, we suggest this approach for the screening of heterozygous genomic deletions in candidate genes down to a few kilobases...
  55. ncbi request reprint Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients
    Daniela Berg
    Institute for Medical Genetics, University of Tubingen, Germany
    Mov Disord 20:1191-4. 2005
    ..A53T mutation. These results demonstrate that mutations in the alpha-synuclein gene are rare and suggest that other factors contribute to alpha-synuclein aggregation in the majority of PD patients...
  56. pmc The Guanine nucleotide exchange factor kalirin-7 is a novel synphilin-1 interacting protein and modifies synphilin-1 aggregate transport and formation
    Yu Chun Tsai
    Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    PLoS ONE 7:e51999. 2012
    ..In summary, this is the first report demonstrating that kalirin-7 leads to the recruitment of synphilin-1 into aggresomes in a HDAC6-dependent manner and also links kalirin-7 to microtubule dynamics...
  57. ncbi request reprint The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease
    Silke Metzger
    Department of Medical Genetics, University of Tubingen, Calwerstrasse 7, 72076 Tubingen, Germany
    Neurogenetics 7:27-30. 2006
    ..In this group, the allelic variation on locus S18Y is responsible for 1.1% of the variance in the HD age-at-onset, and the rare Y allele is associated with younger-aged cases...
  58. ncbi request reprint Transgenic overexpression of the alpha-synuclein interacting protein synphilin-1 leads to behavioral and neuropathological alterations in mice
    Silke Nuber
    Department of Medical Genetics, University of Tubingen, Calwerstr 7, 72076 Tubingen, Germany
    Neurogenetics 11:107-20. 2010
    ..These findings suggest a pathological role of overexpressed synphilin-1 in vivo and will help to further elucidate the mechanisms of protein aggregation and neuronal cell death...
  59. doi request reprint Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA
    Kathrin Grundmann
    Department of Medical Genetics, University of Tubingen, Germany
    Proteomics Clin Appl 2:720-36. 2008
    ....
  60. ncbi request reprint Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach
    Jürgen Tomiuk
    Department of Medical Genetics, Division of General Human Genetics, Institute of Human Genetics, University of Tubingen, Tubingen, Germany
    Eur J Hum Genet 15:81-7. 2007
    ..This can explain the rare and sporadic de novo generation of SCA17 alleles...
  61. ncbi request reprint Disturbance of iron metabolism in Parkinson's disease -- ultrasonography as a biomarker
    Daniela Berg
    Hertie Institute of Clinical Brain Research, University of Tubingen, Hoppe Seyler Strasse 3, D 72076 Tubingen, Germany
    Neurotox Res 9:1-13. 2006
    ..Future studies aim at substantiating the hypothesis that healthy subjects with SN hyperechogenicity indeed represent a population at risk for nigrostriatal degeneration, which would have a significant impact on therapeutical options...
  62. doi request reprint Prevalence of THAP1 sequence variants in German patients with primary dystonia
    Anne S Söhn
    Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Tubingen, Germany
    Mov Disord 25:1982-6. 2010
    ..These findings suggest that THAP1 sequence variations seem to be associated with different ages of onset and distribution of symptoms. Consequently, the phenotypic spectrum might be broader than previously assumed...
  63. ncbi request reprint Genotype-phenotype relationships in hepatocellular tumors from mice and man
    Sabine Stahl
    Institut fur Pharmakologie und Toxikologie, Abteilung Toxikologie, Universitat Tubingen, Wilhelmstrasse 56, 72074 Tubingen, Germany
    Hepatology 42:353-61. 2005
    ..Supplementary material for this article can be found on the HEPATOLOGY website (http://www.interscience.wiley.com/jpages/0270-9139/suppmat/index/html)...
  64. doi request reprint Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability
    Angelika Riess
    Institute of Human Genetics, University of Tuebingen, Germany
    Am J Med Genet A 158:2587-90. 2012
    ..Thus, the patient broadens our knowledge of the phenotypic consequences of deletions in 3p25.3-p26.1 and facilitates genotype-phenotype correlations for chromosome aberrations of this region...
  65. doi request reprint Age-dependent gene expression profile and protein expression in a transgenic rat model of Huntington's disease
    Huu Phuc Nguyen
    Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    Proteomics Clin Appl 2:1638-50. 2008
    ....
  66. pmc ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2
    Karina Haebig
    Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Tuebingen, Germany
    PLoS ONE 5:e13762. 2010
    ..Mutations within the leucine-rich repeat kinase 2 (LRRK2) gene are a common cause of familial and sporadic Parkinson's disease. The multidomain protein LRRK2 exhibits overall low GTPase and kinase activity in vitro...
  67. pmc Whole genome expression analyses of single- and double-knock-out mice implicate partially overlapping functions of alpha- and gamma-synuclein
    Melanie Kuhn
    Department of Medical Genetics, University of Tuebingen, Calwerstrasse 7, 72076 Tubingen, Germany
    Neurogenetics 8:71-81. 2007
    ..beta-synuclein expression was not significantly altered in any of the models...
  68. ncbi request reprint Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia
    Kathrin Grundmann
    Department of Neurology, University of Tubingen, Germany
    Arch Neurol 60:1266-70. 2003
    ..A 3-base pair (GAG) deletion in the DYT1 gene is held responsible for most cases of early-onset primary generalized dystonia in the Ashkenazi Jewish population as well as in non-Jewish patients...
  69. ncbi request reprint Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause
    Peter Bauer
    Medical Genetics, University of Tubingen, Tubingen, Germany
    Mov Disord 21:1734-7. 2006
    ..Additionally, linkage analysis excluded TITF1 mutations in a large family with benign hereditary chorea...
  70. ncbi request reprint Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra
    Bettina Felletschin
    Institute for Human Genetics, University of Tuebingen, Calwerstrasse 7, 72076 Tuebingen, Germany
    Neurosci Lett 352:53-6. 2003
    ....
  71. doi request reprint Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)
    Peter Bauer
    Department of Medical Genetics, University of Tubingen, Tubingen, Germany
    Neurogenetics 13:73-6. 2012
    ..The mutant allele was absent in 316 Caucasian and 200 ethnically matched control chromosomes. We propose that AP4B1 mutations cause SPG47 and should be considered in early onset spastic paraplegia with intellectual disability...
  72. ncbi request reprint Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease
    Nils Rahner
    Department of Medical Genetics, Children s Hospital, University Rostock, Rembrandt Strasse 16 17, 18055, Rostock, Germany
    Brain Res 951:82-6. 2002
    ..Association studies based on these haplotypes revealed no significant differences between PD patients and 344 control individuals. Therefore, NF-L is unlikely to play a major role in the pathogenesis of PD...
  73. ncbi request reprint Genetic investigation of the TSPYL1 gene in sudden infant death syndrome
    Robert Hering
    Institute for Human Genetics, Department of Medical Genetics, University of Tuebingen, Calwerstrasse 7, 72072 Tuebingen, Germany
    Genet Med 8:55-8. 2006
    ..Recently, a lethal phenotype characterized by sudden infant death with dysgenesis of the testes syndrome (SIDDT) was identified to be caused by loss of function mutations in the TSPYL1 gene...
  74. ncbi request reprint 14-3-3 proteins in the nervous system
    Daniela Berg
    Institute for Human Genetics, Department of Medical Genetics, University of Tubingen, Calwerstrasse 7, 72076 Tubingen, Germany
    Nat Rev Neurosci 4:752-62. 2003
  75. ncbi request reprint Relapsing pancreatitis due to a novel compound heterozygosity in the CFTR gene involving the second most common mutation in central and eastern Europe [CFTRdele2,3(21 kb)]
    Georg Lamprecht
    1st Medical Department, University of Tubingen, Tubingen, DE 72076, Germany
    Pancreatology 5:92-6; discussion 95-6. 2005
    ..This haplotype should be included in the genetic panel when evaluating patients of central or eastern European genetic background for possible CFTR related pancreatitis...
  76. ncbi request reprint Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions
    Thorsten Schmidt
    Department of Medical Genetics, University of Tubingen, Germany
    Ann Neurol 51:302-10. 2002
    ..The dissociation between regulatory subunits and the proteolytic core and the changes in subcellular subunit distribution suggest perturbations of the proteosomal machinery in spinocerebellar ataxia type 3 brains...
  77. ncbi request reprint Spectrin mutations in spinocerebellar ataxia (SCA)
    Peter Bauer
    Department of Medical Genetics, University of Tubingen, Germany
    Bioessays 28:785-7. 2006
    ..The findings suggest that the mechanical properties of neurons and their dynamics may be as important as altered Ca(2+) homeostasis, transcriptional dysregulation, and impaired protein degradation in neurodegeneration conditions...
  78. ncbi request reprint Expression mapping of tetracycline-responsive prion protein promoter: digital atlasing for generating cell-specific disease models
    Jana Boy
    Department of Medical Genetics, University of Tubingen, Tubingen, Germany
    Neuroimage 33:449-62. 2006
    ..The study serves as a precursor for a database resource allowing evaluation of the suitability of different promoter mouse lines for generating disease models...
  79. doi request reprint Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant - a model of cone dystrophies
    M Dominik Fischer
    University of Tuebingen, Schleichstr 12 16, Tuebingen, Germany
    Adv Exp Med Biol 664:593-9. 2010
    ..We performed a comprehensive in vivo assessment of retinal morphology and function in cpfl1 (cone photoreceptor function loss 1) mice to better define the disease process in this model of cone dystrophies...
  80. pmc A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)
    Nina A Schlipf
    Department of Medical Genetics, Institute of Human Genetics, Tubingen, Germany
    Eur J Hum Genet 18:1065-7. 2010
    ..To date, as SPG42 has still not been identified in a second, unrelated family, systematic genetic testing for SLC33A1 mutations is not recommended...
  81. pmc Localization of sequence variations in PGC-1α influence their modifying effect in Huntington disease
    Hong Van B Che
    Department of Medical Genetics, University of Tuebingen, Calwerstr, 7, 72074 Tuebingen, Germany
    Mol Neurodegener 6:1. 2011
    ....
  82. ncbi request reprint B-raf and Ha-ras mutations in chemically induced mouse liver tumors
    Maike Jaworski
    1Institut für Pharmakologie und Toxikologie, Abteilung Toxikologie, Universitat Tubingen, Wilhelmstr 56, 72074 Tubingen, Germany
    Oncogene 24:1290-5. 2005
    ..These fundamental differences between the biology of liver tumors in mice and man may be of toxicological relevance...
  83. ncbi request reprint Progression-specific genes identified by expression profiling of matched ductal carcinomas in situ and invasive breast tumors, combining laser capture microdissection and oligonucleotide microarray analysis
    Christina S Schuetz
    Department of Obstetrics and Gynecology, Microarray Facility, Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    Cancer Res 66:5278-86. 2006
    ....
  84. ncbi request reprint Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
    Arndt Rolfs
    Department of Neurology, University of Rostock, Rostock, Germany
    Ann Neurol 54:367-75. 2003
    ..Based on clinical and genetic data, we conclude that SCA17 is rare among white SCA patients. SCA17 should be considered in sporadic and familial cases of ataxia with accompanying psychiatric symptoms and dementia...
  85. ncbi request reprint Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients
    Ana Djarmati
    Department of Human Genetics, University of Lubeck, Lubeck, Germany
    Hum Mutat 23:525. 2004
    ..Although DJ1 mutations appear to be rare, we confirm their role in EOPD and demonstrate the importance of gene dosage studies...
  86. pmc Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease
    Esti Liani
    Department of Pharmacology, The B Rappaport Institute of Medical Research, Technion Israel Institute of Technology, Haifa 31096, Israel
    Proc Natl Acad Sci U S A 101:5500-5. 2004
    ..In vitro experiments show that SIAH-2 monoubiquitylates alpha-synuclein. Further evidence that SIAH proteins may play a role in inclusion formation comes from the demonstration of SIAH immunoreactivity in Lewy bodies of PD patients...
  87. ncbi request reprint Haploinsufficiency at the alpha-synuclein gene underlies phenotypic severity in familial Parkinson's disease
    Hirokazu Kobayashi
    Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
    Brain 126:32-42. 2003
    ..Furthermore, these findings suggest that haploinsufficiency of alpha-synuclein mutations may contribute to disease progression in these forms of familial Parkinson's disease...
  88. ncbi request reprint The R98Q variation in DJ-1 represents a rare polymorphism
    Katja Hedrich
    Ann Neurol 55:145; author reply 145-6. 2004
  89. ncbi request reprint Transgenic rat model of Huntington's disease
    Stephan von Horsten
    Department of Functional and Applied Anatomy, Hannover Medical School, Hannover, Germany
    Hum Mol Genet 12:617-24. 2003
    ..This model allows longitudinal in vivo imaging studies and is therefore ideally suited for the evaluation of novel therapeutic approaches such as neurotransplantation...
  90. ncbi request reprint Do CTG expansions at the SCA8 locus cause ataxia?
    Ludger Schols
    Department of Neurology, St Josef Hospital, Ruhr University, Bochum, Germany
    Ann Neurol 54:110-5. 2003
    ..Our data question the disease-causing character of CTG expansions for SCA8 and advise great caution in genetic testing...
  91. ncbi request reprint Specification of 14-3-3 proteins in Lewy bodies
    Daniela Berg
    Ann Neurol 54:135. 2003
  92. ncbi request reprint The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis
    Jochen Reiss
    Institut für Humangenetik der Universität Göttingen, Heinrich Düker Weg 12, 37073 Gottingen, Germany
    Mol Genet Metab 85:12-20. 2005
    ..This neuronal damage appears to be triggered by elevated sulfite levels and is ameliorated in affected embryos by maternal clearance...
  93. ncbi request reprint Cellular and subcellular localization of Huntingtin [corrected] aggregates in the brain of a rat transgenic for Huntington disease
    Elisabeth Petrasch-Parwez
    Department of Neuroanatomy and Molecular Brain Research, Ruhr University Bochum, 44801 Bochum, Germany
    J Comp Neurol 501:716-30. 2007
    ....
  94. ncbi request reprint Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease
    Nadine Abahuni
    Institute for Experimental Neurobiology, University Hospital Frankfurt Main, Germany
    Neurosci Lett 414:126-9. 2007
    ..0073. An altered function of variant MTIF3 may affect the availability of mitochondrial encoded proteins, lead to oxidative stress and create vulnerability for PD...
  95. ncbi request reprint Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease
    Demetrius M Maraganore
    Department of Neurology, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
    JAMA 296:661-70. 2006
    ..Alpha-synuclein (SNCA) has been one of the most promising susceptibility genes, but large-scale studies have been lacking...
  96. ncbi request reprint New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14
    Stephan Klebe
    Institut National de la Sante et de la Recherche Médicale U679 formerly U289 and Institut Fédératif de Recherche en Neurosciences, Paris, France
    Ann Neurol 58:720-9. 2005
    ..SCA14 represented only 1.5% (7/454) of French ADCA families but none of the German families. It should, however, be considered in patients with slowly progressive ADCA, particularly when myoclonus and cognitive impairment are present...
  97. ncbi request reprint PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism
    Christine Klein
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Eur J Hum Genet 13:1086-93. 2005
    ..No mutations were found in the DJ-1 gene. The number of mutation carriers in both the Parkin and the PINK1 gene in our cohort is low but comparable, suggesting that PINK1 has to be considered in EOP...
  98. ncbi request reprint Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease
    Karsten M Strauss
    Center of Neurology and Hertie Institute for Clinical Brain Research, Leicester, UK
    Hum Mol Genet 14:2099-111. 2005
    ..On the basis of functional genomics, our results provide a novel link between mitochondrial dysfunction and neurodegeneration in PD...
  99. ncbi request reprint Selective striatal neuron loss and alterations in behavior correlate with impaired striatal function in Huntington's disease transgenic rats
    Orsolya Kántor
    Department of Anatomy and Cell Biology, RWTH Aachen University, Wendlingweg 2, 52074 Aachen, Germany
    Neurobiol Dis 22:538-47. 2006
    ..No alterations in mean total numbers of striatal neurons were found in 6-month-old animals. Testing 14-month-old animals in a choice reaction time task indicated impaired striatal function of tgHD rats compared with controls...
  100. ncbi request reprint Blood level of brain-derived neurotrophic factor mRNA is progressively reduced in rodent models of Huntington's disease: restoration by the neuroprotective compound CEP-1347
    Paola Conforti
    Department of Pharmacological Sciences and Center for Stem Cell Research, University of Milan, Via Balzaretti 9, 20133 Milano, Italy
    Mol Cell Neurosci 39:1-7. 2008
    ..Our results indicate that alterations in BDNF mRNA levels in peripheral blood are a readily accessible measurement of disease progression and drug efficacy in HD rodent models...
  101. ncbi request reprint Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype
    Ingrid Bauer
    Ann Neurol 51:662. 2002