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PSEN1 A285S

MUTATIONS PSEN1 73664822 GRCh37 (105) G T Exon 8 Point, Missense Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and tolerable (SIFT). CADD score = 25.9. Unknown, but in one case, PiB-PET was positive, MRI revealed bilateral ...

PSEN1 Y159C

MUTATIONS 73640411 GRCh37 (105) rs778630379 A G PSEN1 Exon 5 Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerated (SIFT). Cryo-EM suggests structural role in PSEN1-APP interaction. CADD score = 28.3. Unknown, but in one ...

PSEN1 Y389H

MUTATIONS PSEN1 73683869 GRCh37 (105) T C Exon 11 Point, Missense Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerable/damaging (SIFT). CADD score = 26.9. Unknown, but in two cases, amyloid-PET was positive. MRI ...

PSEN1 L282P

MUTATIONS PSEN1 Chr14:73664814 GRCh37 (105) T C Exon 8 Point, Missense Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerated (SIFT). CADD score = 28.5 Unknown, but in one patient, MRI revealed mild, diffuse cortical ...

PSEN1 Y389S

MUTATIONS PSEN1 73683870 GRCh37 (105) A C Exon 11 Point, Missense Coding Unknown, but predicted probably damaging by in silico algorithms Polyphen2 and SIFT. CADD score = 26.8. Unknown, but one case had Aβ accumulation (PiB-PET+), with mild, diffuse cortical ...

PSEN2 K82fs

MUTATIONS 227071509 GRCh37 (105) AA-- PSEN2 Exon 4 Deletion Coding Frameshift starting at K82; reduced mutant protein in frontal cortex and hippocampus. Neuropathology consistent with Pick's disease. K82fs Tauopathy consistent with Pick's Disease: Unclear ...

PSEN2 G359fs (Intron 11/12 delAG)

MUTATIONS 227081706 GRCh37 (105) AG-- PSEN2 Intron 11/12 Deletion Non-Coding Coding Deletion of an adenine in intron 11/12 resulting in exon 12 skipping and a frameshift starting at codon G359; new termination codon in the 3' UTR. Unknown. G359fs (Intron 11/12 ...

PSEN2 G359fs (Intron 11/12 delA)

MUTATIONS 227081706 GRCh37 (105) A- PSEN2 Intron 11/12 Deletion Non-Coding Coding Deletion of an adenine in intron 11/12 resulting in exon 12 skipping and a frameshift starting at codon G359; new termination codon in the 3' UTR. Reduced PSEN2 levels due to ...

Bace1 conditional knockout (Tesco)

RESEARCH MODELS Summary This is the second of two similar models designed to mimic BACE1 inhibition, in which researchers can control the timing of BACE1 deficiency. These conditional knockouts avoid the developmental effects of BACE1 deficiency that are seen in germline ...

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  • Date Range : Jan 2020 to Apr 2020 x

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