ArticleNeuron2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Article in Neuron, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers, 1 of them a synthesis that pooled it.
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Who cites it
91 citing papers in PubMed, 1 synthesis or guideline pooled it, 165 citations in OpenAlex.
- Neurocognitive outcomes in long-term survivors of childhood acute lymphoblastic leukemia treated on contemporary treatment protocols: A systematic review.Neuroscience and biobehavioral reviews · 2015Pooled it
- Metabolomic signature of exposure and response to citalopram/escitalopram in depressed outpatients.Translational psychiatry · 2019Trial
- Ketogenic Diet-Associated Remodeling of the Cortical Proteome in Rats With Genetic Absence Epilepsy.Brain and behavior · 2026Article
- Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.JIMD reports · 2026Article
- A missense variant in Exon 9 of theFrontiers in genetics · 2026Article
- NMR metabolomics reveals metabolic alterations in a novel mouse model of neurodegeneration.Frontiers in neuroscience · 2026Article
- Article
- Beyond Protein Building Blocks: A Review of Biological Roles and Therapeutic Potential of Free Amino Acids.International journal of molecular sciences · 2025Review
- Aspartate in the Brain: A Review.Neurochemical research · 2025Review
- Case Report: a novel homozygousFrontiers in neuroscience · 2025Article
- Unravelling the Signature Follicular Fluid Metabolites in Dairy Cattle Follicles Growing Under Negative Energy Balance: An In Vitro Approach.International journal of molecular sciences · 2024Article
- Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.Human genomics · 2024Article
- A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.Molecular genetics & genomic medicine · 2024Review
- Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase (Journal of pediatric genetics · 2024Article
- Maternal exposure to polystyrene nanoplastics alters fetal brain metabolism in mice.Metabolomics : Official journal of the Metabolomic Society · 2023Article
- Aspartic Acid in Health and Disease.Nutrients · 2023Review
- Amino acid metabolism in health and disease.Signal transduction and targeted therapy · 2023Review
- Metagenomic Insights into the Microbiome and Resistance Genes of Traditional Fermented Foods in Arabia.Foods (Basel, Switzerland) · 2023Article
- Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.medRxiv : the preprint server for health sciences · 2023Article
- DOT1L activity affects neural stem cell division mode and reduces differentiation and ASNS expression.EMBO reports · 2023Article
31 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
44 authors at 12 institutions in 5 countries.
Funding
Abstract
We analyzed four families that presented with a similar condition characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. We show that recessive mutations in the ASNS gene are responsible for this syndrome. Two of the identified missense mutations dramatically reduce ASNS protein abundance, suggesting that the mutations cause loss of function. Hypomorphic Asns mutant mice have structural brain abnormalities, including enlarged ventricles and reduced cortical thickness, and show deficits in learning and memory mimicking aspects of the patient phenotype. ASNS encodes asparagine synthetase, which catalyzes the synthesis of asparagine from glutamine and aspartate. The neurological impairment resulting from ASNS deficiency may be explained by asparagine depletion in the brain or by accumulation of aspartate/glutamate leading to enhanced excitability and neuronal damage. Our study thus indicates that asparagine synthesis is essential for the development and function of the brain but not for that of other organs.
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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.