The new mutation, E46K, of α‐synuclein causes parkinson and Lewy body dementia

By J. Zarranz, Javier Alegre, J. Gómez-Esteban, E. Lezcano, R. Ros, I. Ampuero, Lídice Vidal, J. Hoenicka, O. Rodriguez, B. Atarés and 5 more. Annals of Neurology, 2004

2,834 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Neurology

View Paper: https://www.semanticscholar.org/paper/9809e666ede4f2cc4e474842012adf442487224e

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In Cellular and Molecular Neuroscience

1. M. Block
2. Jau-Shyong Hong
3. V. Lee
4. Valina L. Dawson
5. John Q. Trojanowski
6. T. Dawson
7. Michele Vendruscolo
8. Amol P Pawar

In Neurology

1. M. Block
2. Leonidas Stefanis
3. Jau-Shyong Hong
4. Valina L. Dawson
5. T. Dawson
6. V. Lee
7. John Q. Trojanowski
8. Fabrizio Chiti

Citations in the corpus

• 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).”
• α-Synuclein in Parkinson's disease. (2012, background): “…the threonine was the amino acid in position 53 in the rodent SNCA homolog, this was set aside following the identification of two more point mutations in SNCA, leading to A30P and E46K amino acid changes, which were associated with autosomal-dominant PD (Kruger et al. 1998; Zarranz et al. 2004).”
• Different Species of α-Synuclein Oligomers Induce Calcium Influx and Seeding (2007, background): “Gene multiplication in the -syn gene (Singleton et al., 2003; ChartierHarlin et al., 2004) and missense mutations (Polymeropoulos et al., 1997; Kruger et al., 1998; Zarranz et al., 2004) are linked to familial forms of PD.”
• Intravesicular Localization and Exocytosis of α-Synuclein and its Aggregates (2005, background): “Missense and gene 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 th”
• Prion-like spreading of pathological α-synuclein in brain (2013, background): “Missense mutations (A30P, 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…”
• Aggregated α‐synuclein activates microglia: a process leading to disease progression in Parkinson's disease (2005, background): “It is believed that missense mutations (A30P (19), A53T (20), and, more recently, E46K (21)) or overexpression of the -synuclein gene (22) and -synuclein damaged during the aging process or environmental exposure (reviewed in ref 23) appear to contribute at least partially to familial and sporadic P”
• Prediction of "aggregation-prone" and "aggregation-susceptible" regions in proteins associated with neurodegenerative diseases. (2005, background): “E46K is the latest mutation in a-synuclein that has been linked to Parkinson’s disease.(83) Biophysical characterisation of this mutant showed an increased aggregation propensity relative to wild-type a-synuclein.”
• Neurodegenerative diseases: a decade of discoveries paves the way for therapeutic breakthroughs (2004, background): “Subsequently, two additional point mutations and triplication of SNCA were identified in kindreds with familial Parkinson disease and DL”