Article
Enhanced accumulation of phosphorylated alpha-synuclein and elevated beta-amyloid 42/40 ratio caused by expression of the presenilin-1 deltaT440 mutant associated with familial Lewy body disease and variant Alzheimer's disease.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 28 Nov 2007
Kaneko Hiroyuki, Kakita Akiyoshi, Kasuga Kensaku, Nozaki Hiroaki, Ishikawa Atsushi, Miyashita Akinori, Kuwano Ryozo, Ito Genta, Iwatsubo Takeshi, Takahashi Hitoshi, Nishizawa Masatoyo, Onodera Osamu, Sisodia Sangram S, Ikeuchi Takeshi
Abstract excerpt
Mutations in the PSEN1 gene encoding presenilin 1 (PS1) are linked to a vast majority of pedigrees with early-onset, autosomal dominant forms of familial Alzheimer's disease (FAD). Lewy body (LB) pathology is frequently found in the brains of FAD patients harboring PSEN1 mutations. We recently reported on a novel PS1 mutation with the deletion of threonine at codon 440 (deltaT440) in a familial case diagnosed as...
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