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 #
1Z01HG000117-03
Application #
6290327
Study Section
Special Emphasis Panel (GDRB)
Project Start
Project End
Budget Start
Budget End
Support Year
3
Fiscal Year
1999
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
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
Cabin, Deborah E; Gispert-Sanchez, Suzana; Murphy, Diane et al. (2005) Exacerbated synucleinopathy in mice expressing A53T SNCA on a Snca null background. Neurobiol Aging 26:25-35
Lelievre, Etienne; Bourbon, Pierre-Marie; Duan, Li-Juan et al. (2005) Deficiency in the p110alpha subunit of PI3K results in diminished Tie2 expression and Tie2(-/-)-like vascular defects in mice. Blood 105:3935-8
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

Showing the most recent 10 out of 30 publications