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Article

Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease.

Human molecular genetics - 1 Feb 2014

Newman Morgan, Wilson Lachlan, Verdile Giuseppe, Lim Anne, Khan Imran, Moussavi Nik Seyyed Hani, Pursglove Sharon, Chapman Gavin, Martins Ralph N, Lardelli Michael

Abstract excerpt

PRESENILIN1 (PSEN1) is the major locus for mutations causing familial Alzheimer's disease (FAD) and is also mutated in Pick disease of brain, familial acne inversa and dilated cardiomyopathy. It is a critical facilitator of Notch signalling and many other signalling pathways and protein cleavage...

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Source

Identifiers

PMID: 24101600
DOI: 10.1093/hmg/ddt448

Genes

PSEN1
APP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24101600-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

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Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease.PMID 24101600Read ↗

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<i>PRESENILIN 1</i> mutations causing early-onset familial Alzheimer’s disease or familial acne inversa differ in their effects on genes facilitating energy metabolism and signal transductionSemantic proximity Read ↗

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