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α-Synuclein mutations cluster around a putative protein loop.

Kara, E; Lewis, PA; Ling, H; Proukakis, C; Houlden, H; Hardy, J; (2013) α-Synuclein mutations cluster around a putative protein loop. Neurosci Lett , 546 67 - 70. 10.1016/j.neulet.2013.04.058. Green open access


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With the recent identification of two new pathogenic mutations in α-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 A30P 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.

Type: Article
Title: α-Synuclein mutations cluster around a putative protein loop.
Location: Ireland
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.neulet.2013.04.058
Publisher version: http://dx.doi.org/10.1016/j.neulet.2013.04.058
Language: English
Additional information: © 2013 The Authors. Published by Elsevier Ireland Ltd. All rights reserved. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-No Derivative Works License, which permits non-commercial use, distribution, and reproduction in any medium, provided the original author and source are credited. PMCID: PMC3694303
Keywords: Amino Acid Sequence, Humans, Molecular Sequence Data, Multigene Family, Point Mutation, Protein Conformation, alpha-Synuclein
URI: http://discovery.ucl.ac.uk/id/eprint/1393849
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