Varaico: Literature-Extracted Genetic Variants

Gene:DAO
Variant:p.R199W
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DAO

NM_001917.5:p.R199W

Associated Papers

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

Ono K et al.

The Febs Journal, 2026

Regulation of Gene Expression of Mouse D-Amino Acid Oxidase.

Trinh HTT et al.

Chembiochem : a European Journal of Chemical Biology, 2025

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

Singh N et al.

Neuroscience, 2025

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Peroxisomes as emerging clinical targets in neuroinflammatory diseases.

Roczkowsky A et al.

Frontiers in Molecular 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

Structural and mechanistic insights into ALS patient derived mutations in D-amino acid oxidase.

Khan S et al.

International Journal of Biological Macromolecules, 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

Homeostasis of serine enantiomers is disrupted in the post-mortem caudate putamen and cerebrospinal fluid of living Parkinson's disease patients.

Di Maio A et al.

Neurobiology of Disease, 2023

Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.

Bagyinszky E et al.

Cells, 2023

Modelling amyotrophic lateral sclerosis in rodents.

Todd TW et al.

Nature Reviews. Neuroscience, 2022

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

Zong Y et al.

Molecular and Clinical Oncology, 2021

P219L substitution in human D-amino acid oxidase impacts the ligand binding and catalytic efficiency.

Rachadech W et al.

Journal of Biochemistry, 2020

Mechanistic insights into the loss-of-function mechanisms of rare human D-amino acid oxidase variants implicated in amyotrophic lateral sclerosis.

Padhi AK et al.

Scientific Reports, 2020

d-Amino acid oxidase deficiency is caused by a large deletion in the Dao gene in LEA rats.

Shimizu Y et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2020

Is the primate-specific protein pLG72 affecting SOD1 functionality and superoxide formation?

Murtas G et al.

Free Radical Research, 2020

Peroxisomal dysfunction in neurodegenerative diseases.

Jo DS et al.

Archives of Pharmacal Research, 2019

Distinctive Roles of D-Amino Acids in the Homochiral World: Chirality of Amino Acids Modulates Mammalian Physiology and Pathology.

Sasabe J et al.

The Keio Journal of Medicine, 2019

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.

Mehta PR et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

Insights into the role of d-amino acid oxidase mutations in amyotrophic lateral sclerosis.

Padhi AK et al.

Journal of Cellular Biochemistry, 2019

Human d-amino acid oxidase: The inactive G183R variant.

Murtas G et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2018

Focus on the Role of D-serine and D-amino Acid Oxidase in Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS).

Kondori NR et al.

Frontiers in Molecular Biosciences, 2018

Biochemical Properties of Human D-amino Acid Oxidase Variants and Their Potential Significance in Pathologies.

Sacchi S et al.

Frontiers in Molecular Biosciences, 2018

Human D-Amino Acid Oxidase: Structure, Function, and Regulation.

Pollegioni L et al.

Frontiers in Molecular Biosciences, 2018

RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration.

Ito D et al.

Science Translational Medicine, 2017

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S et al.

Brain : a Journal of Neurology, 2017

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Pathogenicity_questioned

Characterisation of the pathogenic effects of the in vivo expression of an ALS-linked mutation in D-amino acid oxidase: Phenotype and loss of spinal cord motor neurons.

Kondori NR et al.

Plos One, 2017

Experimental approaches for elucidating co-agonist regulation of NMDA receptor in motor neurons: Therapeutic implications for amyotrophic lateral sclerosis (ALS).

Paul P et al.

Journal of Pharmaceutical and Biomedical Analysis, 2015

Structure-function relationships in human d-amino acid oxidase variants corresponding to known SNPs.

Cappelletti P et al.

Biochimica Et Biophysica Acta, 2015

Pathogenic effects of amyotrophic lateral sclerosis-linked mutation in D-amino acid oxidase are mediated by D-serine.

Paul P et al.

Neurobiology of Aging, 2014

The role of D-serine and glycine as co-agonists of NMDA receptors in motor neuron degeneration and amyotrophic lateral sclerosis (ALS).

Paul P et al.

Frontiers in Synaptic Neuroscience, 2014

Amyotrophic lateral sclerosis: an update on recent genetic insights.

Iguchi Y et al.

Journal of Neurology, 2013

Genetics of amyotrophic lateral sclerosis: an update.

Chen S et al.

Molecular Neurodegeneration, 2013

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.

Kenna KP et al.

Human Mutation, 2013

Characterization of human DAAO variants potentially related to an increased risk of schizophrenia.

Caldinelli L et al.

Biochimica Et Biophysica Acta, 2013

Recent progress in the discovery of small molecules for the treatment of amyotrophic lateral sclerosis (ALS).

Limpert AS et al.

Beilstein Journal of Organic Chemistry, 2013

The role of D-amino acids in amyotrophic lateral sclerosis pathogenesis: a review.

Paul P et al.

Amino Acids, 2012

Analysis of the coding genome of diffuse large B-cell lymphoma.

Pasqualucci L et al.

Nature Genetics, 2011

21804550 (PubMed )
Supplement: NIHMS308546-supplement-1.pdf

Research advances in amyotrophic lateral sclerosis, 2009 to 2010.

Traub R et al.

Current Neurology and Neuroscience Reports, 2011

[D-serine in the pathogenesis of amyotrophic lateral sclerosis].

Sasabe J et al.

Seikagaku. the Journal of Japanese Biochemical Society, 2010

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase.

Mitchell J et al.

Proceedings of the National Academy of Sciences of the United States of America, 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."