?-Synuclein mutations cluster around a putative protein loop.
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ABSTRACT:
SUBMITTER: Kara E
PROVIDER: S-EPMC3694303 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Publications
α-Synuclein mutations cluster around a putative protein loop.
Kara Eleanna E Lewis Patrick A PA Ling Helen H Proukakis Christos C Houlden Henry H Hardy John J
Neuroscience letters 20130510
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. ...[more]
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