Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer's disease.

doi:10.1186/s40478-022-01328-5

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Article

Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer's disease.

Acta neuropathologica communications - 4 Mar 2022

Chen Hsiang-Han, Eteleeb Abdallah, Wang Ciyang, Fernandez Maria Victoria, Budde John P, Bergmann Kristy, Norton Joanne, Wang Fengxian, Ebl Curtis, Morris John C, Perrin Richard J, Bateman Randall J, McDade Eric, Xiong Chengjie, Goate Alison, Farlow Martin, Chhatwal Jasmeer, Schofield Peter R, Chui Helena, Harari Oscar, Cruchaga Carlos, Ibanez Laura

Abstract excerpt

BACKGROUND: Autosomal-dominant Alzheimer's disease (ADAD) is caused by pathogenic mutations in APP, PSEN1, and PSEN2, which usually lead to an early age at onset (< 65). Circular RNAs are a family of non-coding RNAs highly expressed in the nervous system and especially in synapses. We aimed to investigate differences in brain gene expression of linear and circular transcripts from the three ADAD genes in...

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Identifiers

PMID: 35246267
DOI: 10.1186/s40478-022-01328-5
PMCID: PMC8895634

Genes

PSEN1
APP
PSEN2
DCC

Provenance

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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