Genomes and Genes
- Large-scale replication and heterogeneity in Parkinson disease genetic lociManu Sharma
Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
Neurology 79:659-67. 2012..The extent to which these genetic effects are consistent across different populations is unknown...
- Meta analysis of whole-genome linkage scans with data uncertainty: an application to Parkinson's diseaseAlbert Rosenberger
Georg August University Gottingen, Medical School, Department of Genetic Epidemiology, Germany
BMC Genet 8:44. 2007..An application to Parkinson's disease is given. Because we had to use secondary data a meta analysis based on original summary values would be desirable...
- Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's diseaseManu 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...
- A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's diseaseRejko 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...
- The transcription factor PITX3 is associated with sporadic Parkinson's diseaseJulia Fuchs
Hertie Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tubingen, Otfried Muller Strasse 27, 72076 Tubingen, Germany
Neurobiol Aging 30:731-8. 2009..004) with PD. The C-allele appears to be a recessive risk allele with an estimated population frequency of 83%. An allele-dependent dysregulation of PITX3 expression might contribute to the susceptibility to PD...
- A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variantsManu Sharma
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and DZNE German Center for Neurodegenerative Diseases, Tubingen, Hoppe Seyler Str 3, Tubingen 72076, Germany
J Med Genet 49:721-6. 2012..Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive...
- Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosisRubén Fernández-Santiago
Department for Neurodegenerative Disorders, Hertie Institute for Clinical Brain Research, Eberhard Karls University, Tuebingen, Germany
J Neurol 256:1337-42. 2009....
- No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohortRubén Fernández-Santiago
Department for Neurodegenerative Disorders, Hertie Institute for Clinical Brain Research, Eberhard Karls University, Otfried Muller Strasse 27, 72076, Tuebingen, Germany
Neurobiol Aging 32:551.e1-4. 2011..Our results did not provide evidence for the association of these SNPs with SALS, suggesting a possible population-specific effect for FLJ10986 and ITPR2 that do not modulate the risk for SALS in the German population...
- Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasisLena F Burbulla
DZNE, German Center for Neurodegenerative Diseases, Tubingen, Germany
Hum Mol Genet 19:4437-52. 2010..Our results support the role of this mitochondrial chaperone in neurodegeneration and underscore the concept of impaired mitochondrial protein quality control in PD...
- Parkin protects mitochondrial genome integrity and supports mitochondrial DNA repairOliver Rothfuss
Department for Neurodegenerative Diseases, Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tubingen, Germany
Hum Mol Genet 18:3832-50. 2009..Our data indicate a novel role for parkin in directly supporting mitochondrial function and protecting mitochondrial genomic integrity from oxidative stress...
- Further delineation of the association signal on chromosome 5 from the first whole genome association study in Parkinson's diseaseManu 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...
- Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunitiesFlorian Mittag
Center for Bioinformatics Tuebingen ZBIT, University of Tuebingen, Tubingen, Germany
Hum Mutat 33:1708-18. 2012..The used software is available at http://www.ra.cs.uni-tuebingen.de/software/MACLEAPS/...