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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 ...

PSEN1 L241R

MUTATIONS PSEN1 73659525 GRCh37 (105) T G Exon 7 Point, Missense Coding Unknown Unknown, but mutation carrier had CSF AD biomarker levels (Aβ42, tau, phospho-tau) in the pathological range.  L241R Alzheimer's Disease: PathogenicAlzheimer's Disease This ...

PSEN1 M210R

MUTATIONS PSEN1 73659432 GRCh37 (105) T G Exon 7 Point, Missense Coding Unknown. Unknown, but levels of AD biomarkers in proband's CSF (Aβ42, tau, phospho-tau) were in the pathological range. M210R Alzheimer's Disease: PathogenicAlzheimer's Disease ...

PSEN1 F205_G206del;insC

MUTATIONS PSEN1 73659417 GRCh37 (105) TTG--- Exon 7 Deletion Coding Unknown Unknown F205_G206del;insC Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation is a deletion of the last two nucleotides of PSEN1 codon 205 and the first nucleotide of ...

PSEN1 I180N

MUTATIONS PSEN1 73653619 GRCh37 (105) T A Exon 6 Point, Missense Coding Unknown Unknown I180N Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was identified in a French study that screened 129 individuals with sporadic AD diagnosed ...

PSEN1 P117Q

MUTATIONS PSEN1 73640285 GRCh37 (105) C A Exon 5 Point, Missense Coding Unknown Unknown, but CSF biomarkers (Aβ42, tau, and phospho-tau) were in the AD pathological range in one case. P117Q Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation ...

PSEN1 G111W

MUTATIONS PSEN1 73637748 GRCh37 (105) G T Exon 4 Point, Missense Coding Unknown Unknown G111W Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was identified in a French study that screened 129 individuals with sporadic AD diagnosed ...

PSEN1 P88H

MUTATIONS PSEN1 73637680 GRCh37 (105) C T Exon 4 Point, Missense Coding Unknown Unknown P88H Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was identified in a screen of patients with early onset AD from 28 French hospitals (Lanoiselée ...

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