Varaico: Literature-Extracted Genetic Variants

Gene:DAO
Variant:p.G183R
Back to variants list

DAO

NM_001917.5:p.G183R

Associated Papers

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

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

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

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

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

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

Paul P et al.

Amino Acids, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."