Varaico: Literature-Extracted Genetic Variants

Gene:PRKCA
Variant:p.M489V
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PRKCA

NM_002737.3:p.M489V

Associated Papers

Protein Kinase C Family: Structures, Biological Functions, Diseases, and Pharmaceutical Interventions.

Li Y et al.

Medcomm, 2025

A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer's disease.

Gauron MC et al.

Science Signaling, 2025

Protein kinase C eta enhances Golgi-localized signaling and is associated with Alzheimer's disease using a recessive mode of inheritance.

Gauron MC et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Single-residue mutation in protein kinase C toggles between cancer and neurodegeneration.

Jones AC et al.

The Biochemical Journal, 2023

Single-residue mutation in protein kinase C toggles between cancer and neurodegeneration.

Jones AC et al.

Biorxiv : the Preprint Server for Biology, 2023

Enhanced activity of Alzheimer disease-associated variant of protein kinase Cα drives cognitive decline in a mouse model.

Lordén G et al.

Nature Communications, 2022

Conventional protein kinase C in the brain: repurposing cancer drugs for neurodegenerative treatment?

Lordén G et al.

Neuronal Signaling, 2021

Protein kinase Cα gain-of-function variant in Alzheimer's disease displays enhanced catalysis by a mechanism that evades down-regulation.

Callender JA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

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

Alfonso SI et al.

Science Signaling, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."