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PSEN1 I249L

MUTATIONS PSEN1 73659548 GRCh37 (105) rs1363575880 A C Exon 7 Point, Missense Coding Increased Aβ42 and Aβ42/Aβ40 ratio, with no effect on PSEN1 endoproteolysis or Aβ43 production, in transfected cells. In silico analyses yielded mixed results: SIFT=tolerated; ...

PSEN1 W203C

MUTATIONS PSEN1 73659412 GRCh37 (105) 1384308168 G C Exon 7 Point, Missense Coding Unknown. In silico analyses predict it to be deleterious (SIFT, PolyPhen2, and Mutation Taster). Unknown W203C Amyotrophic Lateral Sclerosis: Unclear PathogenicityAmyotrophic Lateral ...

PSEN1 A137T

MUTATIONS PSEN1 73640344G GRCh37 (105) G A Exon 5 Point, Missense Coding Unknown Unknown A137T Frontotemporal Dementia: PathogenicFrontotemporal Dementia This mutation was found in a U.K. genetic screen of more than 3,000 samples of patients with dementia (Koriath ...

PSEN1 V393F

MUTATIONS PSEN1 73683881 GRCh37 (105) G T Exon 11 Point, Missense Coding Unknown, but predicted deleterious by in silico analysis (CADD Phred score= 35). Unknown V393F Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in a U.K. ...

SHR24

RESEARCH MODELS Summary Following observations that monoclonal antibodies selective for truncated tau species recognize tau extracted from AD brains (Vechterova et al., 2003) and tau in the core of paired helical filaments (Novak et al., 1993; Skrabana et al., 2004), ...

SHR72

RESEARCH MODELS Summary Following observations that monoclonal antibodies selective for truncated tau species recognize tau extracted from AD brains (Vechterova et al., 2003) and tau in the core of paired helical filaments (Novak et al., 1993; Skrabana et al., 2004), ...

SHR318

RESEARCH MODELS Summary Following observations that monoclonal antibodies selective for truncated tau species recognize tau extracted from AD brains (Vechterova et al., 2003) and tau in the core of paired helical filaments (Novak et al., 1993; Skrabana et al., 2004), ...

TauP301L-AAV

RESEARCH MODELS Summary To create this model, an adeno-associated viral (AAV) vector encoding human tau with the P301L mutation was injected into the ventricles of neonatal mice. At 6 months of age, Tau P301L-AAV mice exhibit neurofibrillary tangles, gliosis, and ...

TauA152T-AAV

RESEARCH MODELS Summary The A152T variant of MAPT acts as a risk modifier that increases susceptibility to several neurodegenerative conditions, including Alzheimer's disease, frontotemporal dementia, and dementia with Lewy bodies. Tau 152T-AAV mice were created to ...

PSEN1 T122A

MUTATIONS PSEN1 73640299 GRCh37 (105) A G Exon 5 Point, Missense Coding Unknown Unknown T122A Frontotemporal Dementia: PathogenicFrontotemporal Dementia This mutation was found in a U.K. genetic screen of more than 3,000 samples of patients with dementia (Koriath ...

PSEN1 L171_ L172insY (Leu171Tyr)

MUTATIONS 73653590_73653591 GRCh37 (105) TAT PSEN1 Leu171Tyr Exon 6 Insertion/Deletion Coding Unknown Unknown L171_ L172insY Alzheimer's Disease: PathogenicAlzheimer's Disease This in-frame insertion was found in a U.K. genetic screen of more than 3,000 ...

PSEN1 869-1G> A

MUTATIONS PSEN1 73673093 GRCh37 (105) G A Intron 8/11 Point Non-Coding Unknown, but predicted to disrupt splicing. Unknown 869-1G>A Alzheimer's Disease: PathogenicAlzheimer's Disease This intronic mutation was found in a U.K. genetic screen of more ...

PSEN1 P433S

MUTATIONS PSEN1 73685890 GRCh37 (105) C T Exon 12 Point, Missense Coding Increased Aβ42, Aβ43, and Aβ42/Aβ40 ratio in transfected cells. Reduced PSEN1 endoproteolysis. Unknown P433S Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was ...

PSEN1 V142I

MUTATIONS PSEN1 73640359 GRCh37 (105) rs63751037 G A Exon 5 Point, Missense Coding Unknown Unknown V142I Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in a U.K. genetic screen of more than 3,000 samples of patients with ...

PSEN1 A360T

MUTATIONS PSEN1 73678599 GRCh37 (105) rs199715992 G A Exon 10 Point, Missense Coding Unknown Unknown. In mutation carrier, CSF Aβ42 was reduced, but tau and phospho-tau levels were normal A360T Alzheimer's Disease: PathogenicAlzheimer's Disease This ...

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  • Date Range : Feb 2019 to Feb 2020 x

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