Varaico: Literature-Extracted Genetic Variants

Gene:SHARPIN
Variant:p.G186R
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SHARPIN

NM_030974.4:p.G186R

Associated Papers

Recent Advances and Future Directions in Alzheimer's Disease Genetic Research.

Stancheva M et al.

International Journal of Molecular Sciences, 2025

CRISPR/Cas9-mediated knock-in cells of the late-onset Alzheimer's disease-risk variant, SHARPIN G186R, reveal reduced NF-κB pathway and accelerated Aβ secretion.

Asanomi Y et al.

Journal of Human Genetics, 2024

Genetics of Alzheimer's disease: an East Asian perspective.

Miyashita A et al.

Journal of Human Genetics, 2023

Involvement of heterologous ubiquitination including linear ubiquitination in Alzheimer's disease and amyotrophic lateral sclerosis.

Sato Y et al.

Frontiers in Molecular Biosciences, 2023

Intervention of next-generation sequencing in diagnosis of Alzheimer's disease: challenges and future prospects.

Chandy T

Dementia & Neuropsychologia, 2023

SHARPIN: Role in Finding NEMO and in Amyloid-Beta Clearance and Degradation (ABCD) Pathway in Alzheimer's Disease?

Krishnan D et al.

Cellular and Molecular Neurobiology, 2022

Linear ubiquitination in immune and neurodegenerative diseases, and beyond.

Tokunaga F et al.

Biochemical Society Transactions, 2022

A functional variant of SHARPIN confers increased risk of late-onset Alzheimer's disease.

Asanomi Y et al.

Journal of Human Genetics, 2022

A missense variant in SHARPIN mediates Alzheimer's disease-specific brain damages.

Park JY et al.

Translational Psychiatry, 2021

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

de Rojas I et al.

Nature Communications, 2021

Met1-linked ubiquitin signalling in health and disease: inflammation, immunity, cancer, and beyond.

Jahan AS et al.

Cell Death and Differentiation, 2021

A rare functional variant of SHARPIN attenuates the inflammatory response and associates with increased risk of late-onset Alzheimer's disease.

Asanomi Y et al.

Molecular Medicine (cambridge, Mass.), 2019

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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."