The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1
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Publisher
United States: John Wiley and Sons Inc
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Language
English
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Publisher
United States: John Wiley and Sons Inc
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INTRODUCTION
Though recognized as a potential cause of autosomal dominant Alzheimer's disease, the pathogenicity of many PSEN2 variants remains uncertain. We compared amyloid beta (Aβ) production across all missense PSEN2 variants in the AlzForum database and, when possible, to corresponding PSEN1 variants.
METHODS
We expressed 74 PSEN2 va...
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Full title
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11667513
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11667513
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ISSN
1552-5260,1552-5279
E-ISSN
1552-5279
DOI
10.1002/alz.14339
