ArticleNeurobiology of aging2014
Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.
Article in Neurobiology of aging, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 34 citations in OpenAlex.
- Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome.Nature communications · 2026Article
- Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Persistence of cerebellar ataxia during chronic ethanol exposure is associated with epigenetic up-regulation of Fmr1 gene expression in rat cerebellum.Alcoholism, clinical and experimental research · 2021Article
- The Role of Glutamate in Language and Language Disorders - Evidence from ERP and Pharmacologic Studies.Neuroscience and biobehavioral reviews · 2020Review
- Reduced Expression of Cerebral Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome.Brain sciences · 2020Article
- Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome.Frontiers in molecular biosciences · 2020Article
- Metabolic Alterations inFrontiers in molecular biosciences · 2020Review
- Excitatory Amino Acid Transporters in Physiology and Disorders of the Central Nervous System.International journal of molecular sciences · 2019Review
- Acute Ethanol Produces Ataxia and Induces Fmr1 Expression via Histone Modifications in the Rat Cerebellum.Alcoholism, clinical and experimental research · 2019Article
- Conditional Knock-out of mGluR5 from Astrocytes during Epilepsy Development Impairs High-Frequency Glutamate Uptake.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- mGlu1 Receptors Monopolize the Synaptic Control of Cerebellar Purkinje Cells by Epigenetically Down-Regulating mGlu5 Receptors.Scientific reports · 2018Article
- Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells.Human molecular genetics · 2018Article
- Fragile X-Associated Neuropsychiatric Disorders (FXAND).Frontiers in psychiatry · 2018Review
- Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome.Human molecular genetics · 2017Article
- Article
- Metabotropic glutamate receptor 5 - a promising target in drug development and neuroimaging.European journal of nuclear medicine and molecular imaging · 2016Review
- Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers.Frontiers in molecular neuroscience · 2016Article
- GABA receptor subunit distribution and FMRP-mGluR5 signaling abnormalities in the cerebellum of subjects with schizophrenia, mood disorders, and autism.Schizophrenia research · 2015Review
- Differential increases of specific FMR1 mRNA isoforms in premutation carriers.Journal of medical genetics · 2015Article
- Impaired sensorimotor gating in Fmr1 knock out and Fragile X premutation model mice.Behavioural brain research · 2014Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
A premutation (PM) expansion (55-200 CGG) in the fragile X mental retardation gene 1 causes elevated messenger RNA and reduced fragile X mental retardation gene 1 protein. Young PM carriers can develop characteristic physical features and mild cognitive disabilities. In addition, individuals with PM, particularly male carriers, are at high risk to develop fragile X-associated tremor/ataxia syndrome (FXTAS) with aging. Human postmortem FXTAS brains show extensive white matter disease in the cerebellum and the presence of intranuclear inclusions throughout the brain, although their etiologic significance is unknown. In the current work, expression levels of the metabotropic glutamate (Glu) receptor 5 and the Glu transporter excitatory amino acid transporter 1, examined by reverse transcription polymerase chain reaction and western blot analyses, were found to be reduced in the postmortem cerebellum of PM carriers with FXTAS compared with age matched controls, with higher CGG repeat number having greater reductions in both proteins. These data suggests a dysregulation of Glu signaling in PM carriers, which would likely contribute to the development and severity of FXTAS.
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Registered trials
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