Article
The peculiar role of the A2V mutation in amyloid-β (Aβ) 1-42 molecular assembly.
The Journal of biological chemistry - 29 Aug 2014
Messa Massimo, Colombo Laura, del Favero Elena, Cantù Laura, Stoilova Tatiana, Cagnotto Alfredo, Rossi Alessandro, Morbin Michela, Di Fede Giuseppe, Tagliavini Fabrizio, Salmona Mario
Abstract excerpt
We recently reported a novel Aβ precursor protein mutation (A673V), corresponding to position 2 of Aβ1-42 peptides (Aβ1-42A2V), that caused an early onset AD-type dementia in a homozygous individual. The heterozygous relatives were not affected as an indication of autosomal recessive inheritance of this mutation. We investigated the folding kinetics of native unfolded Aβ1-42A2V in comparison with the wild type...
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