Article
Cryo-EM studies of amyloid-β fibrils from human and murine brains carrying the Uppsala APP mutation (Δ690-695).
Acta neuropathologica communications - 3 Oct 2025
Zielinski Mara, Peralta Reyes Fernanda S, Gremer Lothar, Sommerhage Simon, Pagnon de la Vega María, Röder Christine, Heidler Thomas V, Syvänen Stina, Willbold Dieter, Sehlin Dag, Ingelsson Martin, Schröder Gunnar F
Abstract excerpt
Today, 13 intra-amyloid-β (Aβ) amyloid precursor protein (APP) gene mutations are known to cause familial Alzheimer's disease (AD). Most of them are point mutations causing an increased production or a change in the conformation of Aβ. The Uppsala APP mutation (Δ690-695 in APP, Δ19-24 in Aβ) is the first known multi-codon deletion causing autosomal dominant AD. Here, we applied cryo-electron microscopy (cryo-EM)...
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