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PSEN1 F386L

MUTATIONS PSEN1 73683862 rs1555358095 T C Exon 11 Point, Missense Coding Unknown, but predicted to be pathogenic by in silico analyses (SIFT and PolyPhen2). Unknown. F386L Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found to ...

PSEN1 L424P

MUTATIONS PSEN1 73685864 GRCh37 (105) T C Exon 12 Point, Missense Coding Unknown, but predicted pathogenic by in silico algorithms (MutationTaster, PolyPhen, Provean, and SIFT). 3D in silico analysis predicted shortening of two intramembrane α-helices and creation ...

PSEN1 G417A

MUTATIONS PSEN1 73685843 GRCh37 (105) G C Exon 12 Point, Missense Coding Unknown, but in silico analyses predict mutation is damaging (PolyPhen2, SIFT, Provean). Changes in amino acid bulkiness, polarity, and hydrophobicity, together with 3D modeling, suggest ...

CamKII;(GR)80

RESEARCH MODELS A G 4 C 2 hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9ORF72) is the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This repeat expansion encodes five dipeptide repeat ...

PSEN1 G111V

MUTATIONS PSEN1 73637749 GRCh37 (105) G T Exon 4 Point, Missense Coding Reduced Aβ40, unchanged Aβ42, and elevated Aβ42/Aβ40 ratio in transfected cells. In silico analyses (PANTHER, Mutation Taster, and PolyPhen-2) predict probably pathogenic.  Unknown, but an MRI ...

C9ORF72(AAV)(G4C2)149

RESEARCH MODELS A (G 4 C 2) hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9ORF72) is the most frequent genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. Bidirectional transcription of this expansion yields sense (G 4 C ...

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 damaging or possibly damaging (PolyPhen2); damaging or tolerated (SIFT), and neutral (Provean). CADD-PHRED score = 24. Unknown, but in one case, ...

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), ...

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