Publications:

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: H50A

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: H50A

PubMed Link: 24936070

Variant Present in the following documents:

• Main text

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Residue histidine 50 plays a key role in protecting α-synuclein from aggregation at physiological pH.

The Journal Of Biological Chemistry

Chi, Ying-Chih YC; Armstrong, Geoffrey S GS; Jones, David N M DN; Eisenmesser, Elan Z EZ; Liu, Chang-Wei CW

Publication Date: 2014-05-30

Variant appearance in text: SNCA: H50A

PubMed Link: 24742669

Variant Present in the following documents:

• Main text

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A novel α-synuclein missense mutation in Parkinson disease.

Neurology

Proukakis, Christos C; Dudzik, Christopher G CG; Brier, Timothy T; MacKay, Donna S DS; Cooper, J Mark JM; Millhauser, Glenn L GL; Houlden, Henry H; Schapira, Anthony H AH

Publication Date: 2013-03-12

Variant appearance in text: SNCA: H50A

PubMed Link: 23427326

Variant Present in the following documents:

• Main text

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