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Article

Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 11 Apr 2012

Watanabe Hirotaka, Xia Dan, Kanekiyo Takahisa, Kelleher Raymond J, Shen Jie

Abstract excerpt

Mutations in the presenilin-1 (PSEN1) gene are associated with familial Alzheimer's disease and frontotemporal dementia (FTD). Interestingly, neuropathological analysis of a Belgian FTD family carrying a PSEN1 c.548G>T mutation confirmed neurodegeneration in the absence of amyloid plaques. To inv...

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Identifiers

PMID: 22496554
DOI: 10.1523/JNEUROSCI.0317-12.2012
PMCID: PMC3340902

Genes

PSEN1
APP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22496554-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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