PAPER
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331254 RESULTS
PSEN1 I202F
MUTATIONS PSEN1 73659407 GRCh37/hg19 A T Exon 7 Point, Missense Coding Reduced Aβ38 and Aβ37 production, as well as Aβ38/Aβ42 and Aβ37/Aβ42 ratios in membranes isolated from patient brains and transgenic cultured cells. Neuropathology was consistent with AD, wit
PSEN1 L226F
MUTATIONS PSEN1 73659479 GRCh37/hg19 rs63750487 C T Exon 7 Point, Missense Coding Increased Aβ42/Aβ40 ratio; increased Aβ42; increased Aβ40. Neuropathology consistent with AD. L226F Alzheimer's Disease: PathogenicAlzheimer's Disease, Frontotemporal Dement
PSEN1 L235R
MUTATIONS PSEN1 73659507 GRCh37/hg19 T G Exon 7 Point, Missense Coding Drastically decreased Aβ42 production and abrogated Aβ40 production in vitro. Also, caused incomplete endoproteolytic processing of PSEN1. Predicted possibly damaging in silico. Unknown; MRI sho
PSEN1 T116R
MUTATIONS PSEN1 73640281_73640283 GRCh37/hg19 Exon 5 Coding Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. It increased Aβ42 and 43 production at the expense of Aβ37, 38 and 40, and reduced to
Tara Spires-Jones on Molecular Structure of β-Amyloid Fibrils in Alzheimer's Disease Brain Tissue.
COMMENT This interesting paper implies that while amyloid fibrils appear to have a uniform structure in the plaque of a given patient with Alzheimer’s disease (AD), that structure may differ from patient to patient. This conclusion is based on data from only two
Fred Van Leuven on Antibodies Stop Toxic Tau in Its Extracellular Tracks
COMMENT This is excellent work allowing me to pitch two points: 1. Is there no need to target phosphorylated or conformational tau epitopes, as linear "naked" ones appear to work fine, at least in mice? 2. This is confirmation of what we thought all alo