SEARCH RESULTS

92 RESULTS

PSEN1 Q15H

MUTATIONS PSEN1 73614772 GRCh37 (105) 1330528266 G C Exon 3 Point, Missense Coding Unknown Unknown Q15H Frontotemporal Dementia: Unclear PathogenicityFrontotemporal Dementia This mutation was identified in a genetic screen of 421 patients in the U.K. with early ...

PSEN1 P303L

MUTATIONS PSEN1 73673133 GRCh37 (105) rs147638016 C T Exon 9 Point, Missense Coding Unknown. Unknown. P303L Frontotemporal Dementia: Unclear PathogenicityFrontotemporal Dementia This mutation was identified in a genetic screen of 421 patients in the U.K. with early ...

PSEN1 R42L

MUTATIONS PSEN1 73637542 GRCh37 (105) 3677775281 G T Exon 4 Point, Missense Coding Unknown. Unknown. R42L Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This mutation was identified in a genetic screen of 757 patients in the U.K. with early ...

PSEN1 I227V

MUTATIONS PSEN1 73659482 GRCh37 (105) rs199842082 A G Exon 7 Point, Missense Coding Unknown Unknown I227V Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was identified in a genetic screen of 757 patients in the U.K. with early onset AD ...

AppNL-G-F/MAPT double knock-in

RESEARCH MODELS Summary App NL-G-F /MAPT double knock-in mice represent a unique model for studying the nexus between human Aβ and human tau. These mice were created by crossing App NL-G-F mice with MAPT knock-in mice. In the former line, the endogenous mouse App gene ...

MAPT knock-in

RESEARCH MODELS Summary It has been suggested that differences in mouse and human tau may partially underlie the difficulty in modeling Alzheimer’s disease in mice (see Alzforum webinar). In this knock-in model, the entire genomic sequence of murine Mapt from exon 1 to ...

LRRK2 G2019S KI Mouse

RESEARCH MODELS This constitutive knock-in mouse model was generated by introducing the LRRK2 G2019S point mutation into exon 41 of the mouse LRRK2 gene (Matikainen-Ankney et al., 2016). Homozygous mutant mice appear grossly normal. They generate litters comparable in ...

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 73640291 GRCh37 (105) C T PSEN1 Exon 5 Point, Missense Coding Unknown, but most in silico analyses predict it to be damaging, as do structural data. CADD-PHRED score = 24. Unknown, but in 3 cases, PiB-PET revealed amyloid in frontal, parietal, and ...

Current Filters

  • TYPE: Antibody x
  • TYPE: Research Models x
  • TYPE: Protocol x
  • TYPE: Alzpedia x
  • TYPE: Mutations x
  • TYPE: Biomarker Meta Analysis x
  • TYPE: Therapeutics x
  • Date Range : Feb 2019 to Feb 2020 x

Remove all filters

Filter By

DATE RANGE
TYPE
DATABASE