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APP T719N

MUTATIONS APP 27264089 GRCh37 (105) C A Exon 17 Point, Missense Coding In a heterologous expression system, the T719N mutation led to increased levels of Aβ42 and an elevated Aβ42:Aβ40 ratio, compared with wild-type APP. Unknown. T719N Alzheimer's Disease: ...

PSEN1 T119I

MUTATIONS PSEN1 73640291 GRCh37 (105) C T Exon 5 Point, Missense Coding Unknown, but in silico analyses predict it to be possibly damaging (PolyPhen2) or damaging (SIFT). CADD-PHRED score = 24. Unknown, but in one case, PiB-PET revealed amyloid deposition in ...

PSEN1 I249L

MUTATIONS PSEN1 73659548 GRCh37 (105) rs1363575880 A C Exon 7 Point, Missense Coding Unknown. In silico analyses yielded mixed results: SIFT=tolerated; PolyPhen2=possibly damaging; Mutation Taster=disease causing. Unknown I249L Amyotrophic Lateral Sclerosis: ...

PSEN1 W203C

MUTATIONS PSEN1 Chromosomal Position:  73659412 Genome Build:  GRCh37 (105) DB SNP ID:  1384308168 Nucleotide Change From:  G Nucleotide Change To:  C Exon 7 Point, Missense Coding Unknown. In silico analyses predict it to be deleterious (SIFT, PolyPhen2, and ...

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 Unknown Unknown P433S 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 dementia ...

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