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Article

Gain-of-function mutations in protein kinase Cα (PKCα) may promote synaptic defects in Alzheimer's disease.

Science signaling - 10 May 2016

Alfonso Stephanie I, Callender Julia A, Hooli Basavaraj, Antal Corina E, Mullin Kristina, Sherman Mathew A, Lesné Sylvain E, Leitges Michael, Newton Alexandra C, Tanzi Rudolph E, Malinow Roberto

Abstract excerpt

Alzheimer's disease (AD) is a progressive dementia disorder characterized by synaptic degeneration and amyloid-β (Aβ) accumulation in the brain. Through whole-genome sequencing of 1345 individuals from 410 families with late-onset AD (LOAD), we identified three highly penetrant variants in PRKCA, the gene that encodes protein kinase Cα (PKCα), in five of the families. All three variants linked with LOAD displayed...

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Identifiers

PMID: 27165780
DOI: 10.1126/scisignal.aaf6209
PMCID: PMC5154619

Genes

PRKCA

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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