alpha-Synuclein mutations cluster around a putative protein loop

作者：Kara Eleanna; Lewis Patrick A; Ling Helen; Proukakis Christos; Houlden Henry; Hardy John^*

来源：Neuroscience Letters, 2013, 546: 67-70.

DOI：10.1016/j.neulet.2013.04.058

• alpha-Synuclein
• SNCA
• Genetics
• Parkinson%26apos
• s disease

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.

• 出版日期2013-6-24