ArticleProceedings of the National Academy of Sciences of the United States of America2010
Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 1 of them a synthesis that pooled it.
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Who cites it
102 citing papers in PubMed, 1 synthesis or guideline pooled it, 243 citations in OpenAlex.
- Meta-analysis of Genetic Modifiers Reveals Candidate Dysregulated Pathways in Amyotrophic Lateral Sclerosis.Neuroscience · 2019Pooled it
- Motor dysfunction phenotypes in a drosophila model validate DAO as an ALS gene.Human molecular genetics · 2026Article
- Variability in intracellular localization of D-amino acid oxidase in choroid plexus epithelial cells.The FEBS journal · 2026Article
- Review
- Protein Kinase C promotes peroxisome biogenesis and peroxisome-endoplasmic reticulum interaction.The Journal of cell biology · 2025Article
- Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy.Neurobiology of disease · 2025Article
- NMDA receptors in neurodegenerative diseases: mechanisms and emerging therapeutic strategies.Frontiers in aging neuroscience · 2025Review
- Peroxisomes as emerging clinical targets in neuroinflammatory diseases.Frontiers in molecular neuroscience · 2025Review
- Rethinking antisense oligonucleotide therapeutics for amyotrophic lateral sclerosis.Annals of clinical and translational neurology · 2024Review
- Peroxisome and pexophagy in neurological diseases.Fundamental research · 2024Review
- Review
- Gut Symptoms, Gut Dysbiosis and Gut-Derived Toxins in ALS.International journal of molecular sciences · 2024Review
- Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.Biomolecules · 2023Article
- Review
- Detection and analysis of chiral molecules as disease biomarkers.Nature reviews. Chemistry · 2023Review
- Advances in sequencing technologies for amyotrophic lateral sclerosis research.Molecular neurodegeneration · 2023Review
- Brain Energy Metabolism: Astrocytes in Neurodegenerative Diseases.CNS neuroscience & therapeutics · 2023Review
- The Potential Connection between Molecular Changes and Biomarkers Related to ALS and the Development and Regeneration of CNS.International journal of molecular sciences · 2022Review
- Targeting NMDA Receptors at the Neurovascular Unit: Past and Future Treatments for Central Nervous System Diseases.International journal of molecular sciences · 2022Review
- Indirect Enantioseparations: Recent Advances in Chiral Metabolomics for Biomedical Research.International journal of molecular sciences · 2022Review
42 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 3 institutions in 2 countries.
Funding
Abstract
We report a unique mutation in the D-amino acid oxidase gene (R199W DAO) associated with classical adult onset familial amyotrophic lateral sclerosis (FALS) in a three generational FALS kindred, after candidate gene screening in a 14.52 cM region on chromosome 12q22-23 linked to disease. Neuronal cell lines expressing R199W DAO showed decreased viability and increased ubiquitinated aggregates compared with cells expressing the wild-type protein. Similarly, lentiviral-mediated expression of R199W DAO in primary motor neuron cultures caused increased TUNEL labeling. This effect was also observed when motor neurons were cocultured on transduced astrocytes expressing R199W, indicating that the motor neuron cell death induced by this mutation is mediated by both cell autonomous and noncell autonomous processes. DAO controls the level of D-serine, which accumulates in the spinal cord in cases of sporadic ALS and in a mouse model of ALS, indicating that this abnormality may represent a fundamental component of ALS pathogenesis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.