330986 RESULTS
COMMENT The controversy and research opportunities that Larry started on the role of cholesterol in AD pathogenesis lives on. He was also a really nice and friendly person. It is very sad to see him go. sambak 0
COMMENT Larry, We will miss you! Tobias Tobias.Hartmann@uks.eu 0
�Germany
�Odessa, Ukraine
MUTATIONS PSEN1 73640373 GRCh37/hg19 rs63750391 G C g.25641G> C g.42195G> C Exon 5 Point, Missense Coding Increased Aβ42/Aβ40 and Aβ42/Aβ38; unchanged Aβ38/Aβ40 and Aβ43/Aβ40 in iPSC-derived neurons. Altered protein stability. Also, disrupted lysosome functio
MUTATIONS PSEN1 73640373 GRCh37/hg19 rs63750391 G A g.25641G> A g.42195G> A Exon 5 Point, Missense Coding Increased Aβ42/Aβ40 and Aβ42/Aβ38; unchanged Aβ38/Aβ40 and Aβ43/Aβ40 in iPSC-derived neurons. Altered protein stability. Also, disrupted lysosome functio
MUTATIONS PSEN1 73640371 GRCh37/hg19 rs63750306 A T g.25639A> T g.42193A> T Exon 5 Point, Missense Coding Increased Aβ42, Aβ42/Aβ total, Aβ42/Aβ40 in cells and in vitro assays and decreased Aβ37/Aβ42. Impaired calcium dynamics, mitochondrial permeability, exp
MUTATIONS PSEN1 73640371 GRCh37/hg19 rs63750306 A G g.25639A> G g.42193A> G Exon 5 Point, Missense Coding Increased Aβ42/Aβ40 ratio; increased Aβ42 and Aβ43; lowered wild-type PSEN1 gene expression. Disrupted endosomes via accumulation of APP β-CTF. Disrupted
MUTATIONS PSEN1 73640371 GRCh37/hg19 rs63750306 A C g.25639A> C g.42193A> C Exon 5 Point, Missense Coding Increased Aβ42, Aβ42/Aβ total, Aβ42/Aβ40 in cells and in vitro assays and decreased Aβ37/Aβ42. Impaired calcium dynamics, mitochondrial permeability, exp
MUTATIONS PSEN1 73640364 GRCh37/hg19 rs63751071 T G g.25632T> G g.42186T> G Exon 5 Point, Missense Coding Unknown, but other mutations at this location alter Aβ peptide production and, in wild-type PSEN1, I143 forms part of the substrate-binding pore. Neuro
MUTATIONS PSEN1 73640363 GRCh37/hg19 rs63750004 T C g.25631T> C g.42185T> C Exon 5 Point, Missense Coding Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios. Neuropathology consistent with AD. I143T Alzheimer&#
MUTATIONS PSEN1 73640363 GRCh37/hg19 rs63750004 T A g.25631T> A g.42185T> A Exon 5 Point, Missense Coding Increased Aβ42/Aβ40 and decreased Aβ37/Aβ42 in cultured cells. Unknown I143N Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation w
MUTATIONS PSEN1 73640362 GRCh37/hg19 rs63750322 A T g.25630A> T g.42184A> T Exon 5 Point, Missense Coding Increased Aβ42/Aβ40 and decreased Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 indicating a deleterious effect. Neuropathology consistent with AD, but i
MUTATIONS PSEN1 73640362 GRCh37/hg19 A G g.25630A> G g.42184A> G Exon 5 Point, Missense Coding Increased Aβ42 and Aβ42/Aβ40 ratio in cells and in vitro. Neuropathology consistent with AD, including abundant amyloid plaques and severe neurofibrillary tangle pa
MUTATIONS PSEN1 73640352 GRCh37/hg19 rs63750522 G A g.25620G> A g.42174G> A Exon 5 Point, Missense Coding Increased Aβ42/Aβ total ratio. Possible mislocalization of presenilin-1 protein; co-localization with tangles. M139I (G>A) Alzheimer's Disease: P
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