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Article

Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.

Brain : a journal of neurology - 13 Feb 2023

Course Meredith M, Gudsnuk Kathryn, Keene C Dirk, Bird Thomas D, Jayadev Suman, Valdmanis Paul N

Abstract excerpt

Alzheimer's disease is the most common neurodegenerative disease, characterized by dementia and premature death. Early-onset familial Alzheimer's disease is caused in part by pathogenic variants in presenilin 1 (PSEN1) and presenilin 2 (PSEN2), and alternative splicing of these two genes has been implicated in both familial and sporadic Alzheimer's disease. Here, we leveraged targeted isoform-sequencing to...

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PMID: 35949106
DOI: 10.1093/brain/awac294
PMCID: PMC10169283

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