Abstract

We have identified a mutation in the gene for alpha synuclein responsible for Parkinsons disease in a few kindreds with early onset autosomal dominant Lewy-body positive Parkinsons disease. Current work in my lab is directed towards creating a mouse deficient in alpha synuclein as well as mice expressing the normal and mutant forms of the human alpha synuclein gene in an attempt to create mouse models for Parkinson?s disease. - Parkinson's (DIRECT),Neurodegenerative, Genetics, Brain Disorders - Human Subjects

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Intramural Research (Z01)
Project #
1Z01HG000117-04
Application #
6433665
Study Section
(GDRB)
Project Start
Project End
Budget Start
Budget End
Support Year
4
Fiscal Year
2000
Total Cost
Indirect Cost

  Institution

Name
Human Genome Research
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Hoepken, Hans-Hermann; Gispert, Suzana; Morales, Blas et al. (2007) Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. Neurobiol Dis 25:401-11
Chiba-Falek, Ornit; Lopez, Grisel J; Nussbaum, Robert L (2006) Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients. Mov Disord 21:1703-8
Cole, Nelson B; Murphy, Diane D; Lebowitz, Jacob et al. (2005) Metal-catalyzed oxidation of alpha-synuclein: helping to define the relationship between oligomers, protofibrils, and filaments. J Biol Chem 280:9678-90
Miller, David W; Crawley, Anthony; Gwinn-Hardy, Katrina et al. (2005) Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. Neurosci Lett 374:189-91
Ulmer, Tobias S; Bax, Ad; Cole, Nelson B et al. (2005) Structure and dynamics of micelle-bound human alpha-synuclein. J Biol Chem 280:9595-603
Simon-Sanchez, Javier; Hanson, Melissa; Singleton, Amanda et al. (2005) Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neurosci Lett 382:191-4
Ellis, Christopher E; Murphy, Eric J; Mitchell, Drake C et al. (2005) Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein. Mol Cell Biol 25:10190-201
Chiba-Falek, Ornit; Kowalak, Jeffrey A; Smulson, Mark E et al. (2005) Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene. Am J Hum Genet 76:478-92
Golovko, Mikhail Y; Faergeman, Nils J; Cole, Nelson B et al. (2005) Alpha-synuclein gene deletion decreases brain palmitate uptake and alters the palmitate metabolism in the absence of alpha-synuclein palmitate binding. Biochemistry 44:8251-9
Meyer-Lindenberg, Andreas; Kohn, Philip D; Kolachana, Bhaskar et al. (2005) Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype. Nat Neurosci 8:594-6

Showing the most recent 10 out of 30 publications