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.
Abstract
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 |
| UCL classification: |
UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: |
https://discovery-pp.ucl.ac.uk/id/eprint/1393849 |
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