α-Synuclein Locus Triplication Causes Parkinson's Disease

By A. Singleton, M. Farrer, J. Johnson, A. Singleton, S. Hague, J. Kachergus, M. Hulihan, T. Peuralinna, A. Dutra, R. Nussbaum and 12 more. Science, 2003

3,975 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Neurology

View Paper: https://www.semanticscholar.org/paper/9387412b2ab244ad08fc21b2a6db4a933caded44

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cellular and Molecular Neuroscience

1. Mark P. Mattson
2. H. Ko
3. Valina L. Dawson
4. T. Dawson
5. Christian Haass
6. D. Selkoe
7. V. Lee
8. Christopher M. Dobson

In Neurology

1. Valina L. Dawson
2. T. Dawson
3. Leonidas Stefanis
4. H. Ko
5. D. Selkoe
6. Mark P. Mattson
7. V. Lee
8. Christian Haass

Citations in the corpus

• Parkinson Disease Epidemiology, Pathology, Genetics and Pathophysiology (2019, positive): “The later discovery of autosomal dominant PD families with alphasynuclein gene duplications or triplications added to other data indicating that high levels of alpha-synuclein contribute to the pathogenesis of PD(32).”
• Cell biology of protein misfolding: The examples of Alzheimer's and Parkinson's diseases (2004, background): “Moreover, genomic triplication of the wild-type α-synculein gene can cause P”
• Oxidative Stress in Parkinson's Disease: A Mechanism of Pathogenic and Therapeutic Significance (2008, background): “5 fold elevation in alpha-synuclein expression is sufficient to cause Lewy body disease [49].”
• Exogenous α-Synuclein Fibrils Induce Lewy Body Pathology Leading to Synaptic Dysfunction and Neuron Death (2011, positive): “Interestingly, levels of α-syn increase with age (Chu and Kordower, 2007) and α-syn gene duplication and triplication can lead to PD (Singleton et al., 2003).”
• Genetic Animal Models of Parkinson’s Disease (2010, positive): “In addition, simple duplication or triplication of a-synuclein itself is sufficient to cause PD, suggesting that the level of expression of a-synuclein is a critical determinant of PD progression (Singleton, 2005; Singleton et al., 2003).”
• Prion-like spreading of pathological α-synuclein in brain (2013, background): “…E46K and A53T) in the -synuclein gene (Polymeropoulos et al., 1997; Kruger et al., 1998; Zarranz et al., 2004) and multiplications of the region (Singleton et al., 2003; Chartier-Harlin et al., 2004; Ibanez et al., 2004,) have been identified in familial forms of Parkinson’s disease and…”
• Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease (2009, positive): “Although mutations and copy number variants of SNCA are the cause of rare familial forms of P”