Causal relation between α-synuclein locus duplication as a cause of familial Parkinson's disease
By P. Ibáñez, A. Bonnet, B. Débarges, E. Lohmann, F. Tison, Yves Agid, A. Durr, A. Brice, Pierre Pollak. 2004
894 citations recorded by the source corpus.
Subfields: Cellular and Molecular Neuroscience, Cognitive Neuroscience, Neurology
View Paper: https://www.semanticscholar.org/paper/ea572f4ce78fc59b0e244bcf251824dc2dfc5084
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In Cellular and Molecular Neuroscience
In Cognitive Neuroscience
In Neurology
Citations in the corpus
- Prion-like spreading of pathological α-synuclein in brain (2013, background): “…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 dementia with Lewy bodies, indicating that abnormalities of…”
- Human Disease Models in Drosophila melanogaster and the Role of the Fly in Therapeutic Drug Discovery (2011, background): “…et al., 1997) and A30P (Krüger et al., 1998), as well as genomic duplication and triplication of the -synuclein gene (Singleton et al., 2003; Ibáñez et al., 2004) have been identified as causes of autosomaldominant forms of familial PD. Parkin mutations were identified in families with…”
- A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. (2007, background): “…associated with Alzheimer’s disease (Cabrejo et al., 2006; Rovelet-Lecrux et al., 2006), SNCA duplications (Chartier-Harlin et al., 2004; Ibáñez et al., 2004; Nishioka et al., 2006) and triplications (Farrer et al., 2004; Polymeropoulos et al., 1997; Singleton et al., 2003) for…”
- Mitochondrial dysfunction in Parkinson's disease: molecular mechanisms and pathophysiological consequences (2012, neutral): “…a - synuclein gene and genomic duplications or triplications have been identified in patients with autosomal dominant parkinsonism (Polymeropoulos et al , 1997; Kruger et al , 1998; Singleton et al , 2003; Chartier-Harlin et al , 2004; Farrer et al , 2004; Ibanez et al , 2004; Zarranz et al , 2004).”
- Cell-Produced α-Synuclein Is Secreted in a Calcium-Dependent Manner by Exosomes and Impacts Neuronal Survival (2010, background): “Genetic and biochemical data indicate that an increase in the levels of expression of the wild-type (WT) -synuclein protein is sufficient to cause neurodegeneration in Parkinson’s disease (PD) (Singleton et al., 2003; Chartier-Harlin et al., 2004; Ibáñez et al., 2004).”
- Intravesicular Localization and Exocytosis of α-Synuclein and its Aggregates (2005, background): “…gene are linked to familial forms of PD (Polymeropoulos et al., 1997; Kruger et al., 1998; Singleton et al., 2003; Chartier-Harlin et al., 2004; Ibanez et al., 2004; Zarranz et al., 2004) and result in an acceleration of pathogenic aggregation of this protein (Conway et al., 2000; Choi et al.,…”