期刊
NEUROSCIENCE LETTERS
卷 546, 期 -, 页码 67-70出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.neulet.2013.04.058
关键词
alpha-Synuclein; SNCA; Genetics; Parkinson's disease
资金
- Lung GO Sequencing Project [HL-102923]
- WHI Sequencing Project [HL-102924]
- Broad GO Sequencing Project [HL-102925]
- Seattle GO Sequencing Project [HL-102926]
- Heart GO Sequencing Project [HL-103010]
- Wellcome Trust/MRC [WT089698]
- Wellcome Trust
- Parkinson's UK [F1002]
- MRC [G108/638, G1001253, MR/J004758/1, G0802760, MC_G1000735, G0701075] Funding Source: UKRI
- Medical Research Council [MR/J004758/1, G108/638, G0802760, MC_G1000735, G0701075, G1001253] Funding Source: researchfish
- Parkinson's UK [F-1002] Funding Source: researchfish
With the recent identification of two new pathogenic mutations in a-synuclein, we map the five known pathogenic mutations onto the best available models of the protein structure. We show that four of the five mutations map to a potential fold in the protein with the exception being the MOP mutation in which the substitution would be expected to have a profound effect on protein structure. We discuss this localisation in terms of the proposed mechanisms for mutation pathogenicity. (C) 2013 The Authors. Published by Elsevier Ireland Ltd. All rights reserved.
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