Publications:

Structural insights into α-synuclein monomer-fibril interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Kumari, Pratibha P; Ghosh, Dhiman D; Vanas, Agathe A; Fleischmann, Yanick Y; Wiegand, Thomas T; Jeschke, Gunnar G; Riek, Roland R; Eichmann, Cédric C

Publication Date: 2021-03-09

Variant appearance in text: SNCA: E20C

PubMed Link: 33649211

Variant Present in the following documents:

• Main text
• pnas.202012171.pdf

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The H50Q mutation induces a 10-fold decrease in the solubility of α-synuclein.

The Journal Of Biological Chemistry

Porcari, Riccardo R; Proukakis, Christos C; Waudby, Christopher A CA; Bolognesi, Benedetta B; Mangione, P Patrizia PP; Paton, Jack F S JF; Mullin, Stephen S; Cabrita, Lisa D LD; Penco, Amanda A; Relini, Annalisa A; Verona, Guglielmo G; Vendruscolo, Michele M; Stoppini, Monica M; Tartaglia, Gian Gaetano GG; Camilloni, Carlo C; Christodoulou, John J; Schapira, Anthony H V AH; Bellotti, Vittorio V

Publication Date: 2015-01-23

Variant appearance in text: SNCA: E20C

PubMed Link: 25505181

Variant Present in the following documents:

• Main text
• zbc2395.pdf

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The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity.

The Journal Of Biological Chemistry

Khalaf, Ossama O; Fauvet, Bruno B; Oueslati, Abid A; Dikiy, Igor I; Mahul-Mellier, Anne-Laure AL; Ruggeri, Francesco Simone FS; Mbefo, Martial K MK; Vercruysse, Filip F; Dietler, Giovanni G; Lee, Seung-Jae SJ; Eliezer, David D; Lashuel, Hilal A HA

Publication Date: 2014-08-08

Variant appearance in text: SNCA: E20C

PubMed Link: 24936070

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The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of α-synuclein, and enhances its secretion and nuclear localization in cells.

Human Molecular Genetics

Fares, Mohamed-Bilal MB; Ait-Bouziad, Nadine N; Dikiy, Igor I; Mbefo, Martial K MK; Jovičić, Ana A; Kiely, Aoife A; Holton, Janice L JL; Lee, Seung-Jae SJ; Gitler, Aaron D AD; Eliezer, David D; Lashuel, Hilal A HA

Publication Date: 2014-09-01

Variant appearance in text: SNCA: E20C

PubMed Link: 24728187

Variant Present in the following documents:

• Main text

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