α-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. 2004

1,732 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Cognitive Neuroscience, Neurology

View Paper: https://www.semanticscholar.org/paper/99b1df3e19ca62b73472aec6e7ef0288f17ee272

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In Cellular and Molecular Neuroscience

In Cognitive Neuroscience

Leonidas Stefanis

In Neurology

Citations in the corpus

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).”
α-Synuclein in Parkinson's disease. (2012, background): “Other families were subsequently described that harbored duplications of the gene, which was similarly associated with autosomal-dominant disease (Chartier-Harlin et al. 2004).”
Epidemiology and etiology of Parkinson’s disease: a review of the evidence (2011, neutral): “different populations [192-195].”
Pathological roles of MAPK signaling pathways in human diseases. (2010, background): “However, pathological forms of α-synuclein, including the mutants A30P, E46K, and A53T, as well as the wild-type protein at high levels that result from duplication or triplication of the αsynuclein gene, are prone to form aggregates that trigger neuronal apoptosis [52–54].”
Protein Misfolding, Amyloid Formation, and Human Disease: A Summary of Progress Over the Last Decade. (2017, background): “Another very important type of mutation causes a duplication or triplication of the gene, resulting in a higher concentration of the amyloidogenic protein as occurs for the APP gene and Aβ in hereditary forms of Alzheimer disease (69) as well as the SNCA gene and αs in hereditary Parkinson disease (”
Genetics of Parkinson disease: paradigm shifts and future prospects (2006, background): “Six kindreds have now been identified with de novo genomic duplications or triplications of chromosome 4q21 that encompass the SNCA locu”
Genetics of Parkinson's disease. (2012, background): “Seventeen duplications of the entire coding region of SNCA have been reported to date, 13 in PD families and four in sporadic cases, in one of which it was shown that the mutation arose de novo (Chartier-Harlin et al. 2004; Ibanez et al. 2004; Nishioka et al. 2006; Fuchs et al. 2007; Ahn et al. 2008”
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.”
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. (2007, background): “…and seizures in males, APP duplications 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;…”
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…”
Mitochondrial dysfunction in Parkinson's disease: molecular mechanisms and pathophysiological consequences (2012, positive): “…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).”