Varaico: Literature-Extracted Genetic Variants

Gene:DAO
Variant:p.E121K
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DAO

NM_001917.5:p.E121K

Associated Papers

Variability in intracellular localization of D-amino acid oxidase in choroid plexus epithelial cells.

Ono K et al.

The Febs Journal, 2026

Deleterious Sequestosome 1 mutations G262R and P438L in amyotrophic lateral sclerosis cause autophagy and oxidative stress imbalance.

Singh N et al.

Neuroscience, 2025

Aggregation of E121K mutant D-amino acid oxidase and ubiquitination-mediated autophagy mechanisms leading to amyotrophic lateral sclerosis.

Dave U et al.

Journal of the Neurological Sciences, 2024

Characterization of E121K mutation of D-amino acid oxidase - Insights into mechanisms leading to amyotrophic lateral sclerosis.

Dave U et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2023

D-amino acid oxidase (DAO) rare genetic missense variant p.Pro103Leu and gastric cancer.

Zong Y et al.

Molecular and Clinical Oncology, 2021

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis.

Narain P et al.

Neurobiology of Aging, 2018

On the catalytic role of the active site residue E121 of E. coli L-aspartate oxidase.

Tedeschi G et al.

Biochimie, 2010

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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."