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PSEN1 P242Lfs (P242LfsX11)

MUTATIONS 73659528 GRCh37 (105) C- PSEN1 P242LfsX11 Exon 7 Deletion Coding Decreases PSEN1 mRNA due to premature stop codon, nonsense-mediated decay. No effect on APP cleavage, but enhances Notch signaling. Also enhances cytokine and chemokine expression, and ...

PSEN1 Y159F

MUTATIONS PSEN1 73640411 GRCh37 (105) rs778630379 A T Exon 5 Point, Missense Coding Unknown. Unknown, but CSF biomarkers suggestive of AD. Y159F Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in a woman whose family included ...

PSEN1 T116S; P117T

MUTATIONS PSEN1 Chr14:73640281 GRCh37 (105) Exon 5 Insertion/Deletion Coding Unknown. In silico predictions mixed: deleterious (PolyPhen2, SIFT, PROVEAN); uncertain significance (Mutation Taster 2); medium effect (Mutation Assessor); T116S neutral and P117T ...

MAPT P397S

MUTATIONS MAPT 44101400 GRCh37 (105) rs1295855402 C T Exon 13 Point, Missense Coding Unknown. In silico predictions yield a range of results, but the proline-to-serine change at amino acid 397 should prevent phosphorylation of the adjacent serine 396 by proline ...

PSEN1 H214R

MUTATIONS PSEN1 73659444 GRCh37 (105) A G Exon 7 Point, Missense Coding Unknown, but six in silico algorithms predicted it is deleterious. Unknown, but in one case, MRI showed mild white matter demyelination of the frontal and parietal lobes, with no apparent ...

PSEN1 Y256N

MUTATIONS PSEN1 73659569 GRCh37 (105) T A Exon 7 Point, Missense Coding Unknown, but in silico algorithms predict the mutation is deleterious. Unknown, but MRI revealed temporal lobe and hippocampal atrophy in one case. Y256N Alzheimer's Disease: ...

PSEN1 V261I

MUTATIONS PSEN1 73664750 GRCh37 (105) G A Exon 8 Point, Missense Coding Unknown. Consistent with AD, with widespread cotton wool plaques. V261I Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in an individual diagnosed with ...

PSEN1 N39Y

MUTATIONS PSEN1 73637532 GRCh37 (105) A T Exon 4 Point, Missense Coding Unknown Unknown N39Y Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This mutation was identified in a genetic screen of 757 patients in the U.K. with early onset ...

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 ...

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