Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.

By M. Chartier-Harlin, J. Kachergus, C. Roumier, V. Mouroux, X. Douay, S. Lincoln, C. Levecque, L. Larvor, J. Andrieux, M. Hulihan and 5 more. The Lancet, 2004

984 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/3be1600539c098077eba2dc116fff46e9c57a941

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Citations in the corpus

Mitochondrial dysfunction in Parkinson's disease: molecular mechanisms and pathophysiological consequences (2012, unknown): “Rather than a single linear pathway integrating all these effects described, diverse pathways account for these manifold activities that converge on mitochondria.”
The genetic epidemiology of neurodegenerative disease. (2005, background): “While the exact mechanisms underlying αsynuclein toxicity currently remain only incompletely understood, recent evidence suggests that some SNCA mutations may change normal protein function quantitatively rather than qualitatively, via duplication or triplication of the α-synuclein gene (38, 39).”
Exosomal cell-to-cell transmission of alpha synuclein oligomers (2012, background): “Gene multiplication of the αsyn gene [2,3] and missense mutations [4-6] are linked to familial forms of PD.”
The Role of Oxidative Stress in Parkinson’s Disease (2013, background): “Mutations and multiplication of the SNCA gene are linked to dominantly inherited PD and increase the propensity of the protein to aggregate [220] [221] [222] [223] [224].”
Parkinson's disease: from monogenic forms to genetic susceptibility factors. (2009, unknown): “7%) (16,17,23) Japan 1 (21) Isolated cases with PD Japan 200 0 (18) Korea 869 2 (0.”
Prion-like spreading of pathological α-synuclein in brain (2013, background): “…-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 dementia with Lewy bodies,…”
Intravesicular Localization and Exocytosis of α-Synuclein and its Aggregates (2005, background): “…multiplication mutations in -syn 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…”