4.4 Article

α-Synuclein mutations cluster around a putative protein loop

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

  1. Lung GO Sequencing Project [HL-102923]
  2. WHI Sequencing Project [HL-102924]
  3. Broad GO Sequencing Project [HL-102925]
  4. Seattle GO Sequencing Project [HL-102926]
  5. Heart GO Sequencing Project [HL-103010]
  6. Wellcome Trust/MRC [WT089698]
  7. Wellcome Trust
  8. Parkinson's UK [F1002]
  9. MRC [G108/638, G1001253, MR/J004758/1, G0802760, MC_G1000735, G0701075] Funding Source: UKRI
  10. Medical Research Council [MR/J004758/1, G108/638, G0802760, MC_G1000735, G0701075, G1001253] Funding Source: researchfish
  11. Parkinson's UK [F-1002] Funding Source: researchfish

向作者/读者索取更多资源

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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