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330988 RESULTS

Lance Stewart


Allen Institute for Brain Science
Seattle, United States

PSEN2 R62C

MUTATIONS PSEN2 227071448 GRCh37/hg19 rs150400387 C T 1838C> T 18176C> T Exon 5 Point Coding Reduced levels of CSF Aβ43 and Aβ42, and increased Aβ40; decreased Aβ42/Aβ40 ratio in one carrier. Unknown.  R62C Alzheimer's Disease: BenignAlzheimer's Dis

Blake Scanlon


Stanford University School of Medicine
United States

PSEN2 G34S

MUTATIONS PSEN2 227069708 GRCh37/hg19 G A 100G> A 16436G> A Exon 4 Point Coding Unchanged Aβ42/Aβ40 ratio. Unknown, but in one case, brain MRI showed multiple ischemic foci of the bilateral frontal-parietal lobe and brain atrophy. G34S Alzheimer's Diseas

PSEN2 R29H

MUTATIONS PSEN2 227069694 GRCh37/hg19 G A 86G> A 16422G> A Exon 4 Point Coding Unknown. Not applicable. R29H Alzheimer's Disease: Uncertain SignificanceAlzheimer's Disease This variant was originally identified in an African individual from the Mand

APP K670_M671delinsNL (Swedish)

MUTATIONS APP 27269939 GRCh37/hg19 rs63751263 G T 27269938 GRCh37/hg19 rs63750445 A C 269498G> T;269499A> C 278194G> T;278195A Exon 16 Point, Double Coding Increased BACE1 cleavage resulting in elevated total Aβ, Aβ43, Aβ42, Aβ40, β-CTF, and multiple short

Tracing a Path from Aβ to Tau Leads Scientists to Lost Synapses

RESEARCH NEWS 2013-04-15 Research News How do Aβ oligomers cause synapses to wither in Alzheimer’s disease? In the April 10 Neuron, researchers led by Franck Polleux at the Scripps Research Institute, La Jolla, California, propose a pathway that leads from Aβ oligomers via two ki

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