Abstract

We have identified a mutation in the gene for alpha synuclein responsible for Parkinson's disease in a few kindreds with early onset autosomal dominant Lewy-body positive Parkinson's 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.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Intramural Research (Z01)
Project #
1Z01HG000117-01
Application #
6162624
Study Section
Special Emphasis Panel (LGDR)
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
1997
Total Cost
Indirect Cost

  Institution

Name
National Human Genome Research Institute
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
Hernandez, Dena G; Paisan-Ruiz, Coro; McInerney-Leo, Aideen et al. (2005) Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Ann Neurol 57:453-6
Castagnet, P I; Golovko, M Y; Barcelo-Coblijn, G C et al. (2005) Fatty acid incorporation is decreased in astrocytes cultured from alpha-synuclein gene-ablated mice. J Neurochem 94:839-49
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

Showing the most recent 10 out of 30 publications