Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations.

We examined several PSEN1 and PSEN2 mutations of known and unknown pathogenicity. Known mutants increased Aβ42/Aβ40 ratio with varying effect on Aβ40, Aβ42, total Aβ levels and Pen-2 expression, which aligns with previous work on these mutants. Our data on novel PSEN1 V142F, G206 V and G206D mutations suggest that these mutations underlie the reported clinical observations in ADAD patients. We believe our novel cell line will be valuable for the scientific community for reliable validation of presenilin mutations and helpful in defining their pathogenicity to improve and facilitate evaluation of ADAD patients, particularly in the context of enrollment in clinical trials. PMID: 32032730 [PubMed - as supplied by publisher]
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research

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Source: Molecules - Category: Chemistry Authors: Tags: Article Source Type: research
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Source: International Journal of Neuroscience - Category: Neuroscience Authors: Source Type: research
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Source: Experimental Gerontology - Category: Geriatrics Authors: Tags: Exp Gerontol Source Type: research
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Source: Biochemical Pharmacology - Category: Drugs & Pharmacology Authors: Tags: Biochem Pharmacol Source Type: research
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Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Neurobiology Source Type: research
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Source: Aging - Category: Biomedical Science Authors: Tags: Aging (Albany NY) Source Type: research
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Source: Carbohydrate Research - Category: Genetics & Stem Cells Authors: Tags: Carbohydr Res Source Type: research
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Source: Molecules - Category: Chemistry Authors: Tags: Article Source Type: research
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Source: Neuropharmacology - Category: Drugs & Pharmacology Authors: Tags: Neuropharmacology Source Type: research
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Source: Biotechnology Letters - Category: Biotechnology Authors: Tags: Biotechnol Lett Source Type: research
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