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A Rare Variation in the 3' Untranslated Region of the Presenilin 2 Gene Is Linked to Alzheimer's Disease.

Molecular neurobiology - 1 Sept 2021

Pang Yana, Li Tingting, Wang Qi, Qin Wei, Li Ying, Wei Yiping, Jia Longfei

Abstract excerpt

Rare variations in coding regions may alter the amino acid sequence and function of presenilins (PSENs), which results in the dysfunction of gamma-secretase, in turn contributing to the development of familial Alzheimer's disease (AD). However, whether rare variations in the 3' untranslated region (UTR) may change the expression level of PSEN2 leading to AD remains unclear. In a familial AD pedigree, DNA samples...

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PMID: 34009547
DOI: 10.1007/s12035-021-02429-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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