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Preservation of cell-survival mechanisms by the presenilin-1 K239N mutation may cause its milder clinical phenotype.

Neurobiology of aging - 1 Oct 2016

Sarroca Sara, Molina-Martínez Patricia, Aresté Cristina, Etzrodt Martin, García de Frutos Pablo, Gasa Rosa, Antonell Anna, Molinuevo José Luís, Sánchez-Valle Raquel, Saura Carlos A, Lladó Albert, Sanfeliu Coral

Abstract excerpt

Presenilin 1 (PSEN1) mutations are the main cause of monogenic Alzheimer's disease. We studied the functional effects of the mutation K239N, which shows incomplete penetrance at the age of 65 years and compared it with the more aggressive mutation E120G. We engineered stable cell lines expressing human PSEN1 wild type or with K239N or E120G mutations. Both mutations induced dysfunction of γ-secretase in the...

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Identifiers

PMID: 27498054
DOI: 10.1016/j.neurobiolaging.2016.07.002

Genes

PSEN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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