ArticleHuman molecular genetics2011
Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.
Article in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
50 citing papers in PubMed, 76 citations in OpenAlex.
- Article
- Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.Brain : a journal of neurology · 2023Article
- NMD abnormalities during brain development in the Fmr1-knockout mouse model of fragile X syndrome.Genome biology · 2021Article
- Cortical gyrification and its relationships with molecular measures and cognition in children with the FMR1 premutation.Scientific reports · 2020Article
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.International journal of molecular sciences · 2020Review
- Developmental aspects of FXAND in a man with the FMR1 premutation.Molecular genetics & genomic medicine · 2020Article
- Review
- Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS.Molecular therapy. Nucleic acids · 2019Article
- Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome.Acta neuropathologica communications · 2019Article
- Genetic mutations in CaGenes, brain, and behavior · 2019Article
- Microglial cell activation and senescence are characteristic of the pathology FXTAS.Movement disorders : official journal of the Movement Disorder Society · 2018Article
- Of Men and Mice: Modeling the Fragile X Syndrome.Frontiers in molecular neuroscience · 2018Article
- Psychiatric behaviors associated with cytoskeletal defects in radial neuronal migration.Cellular and molecular life sciences : CMLS · 2017Review
- Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome.Human molecular genetics · 2017Article
- Article
- Iron accumulation and dysregulation in the putamen in fragile X-associated tremor/ataxia syndrome.Movement disorders : official journal of the Movement Disorder Society · 2017Article
- Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.Prenatal diagnosis · 2017Article
- Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics.Frontiers in cellular neuroscience · 2017Review
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice.Cerebellum (London, England) · 2016Review
- Abnormal white matter tracts resembling pencil fibers involving prefrontal cortex (Brodmann area 47) in autism: a case report.Journal of medical case reports · 2016Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder caused by a premutation CGG-trinucleotide repeat expansion (55-200 CGG repeats) within the 5'-untranslated region of the FMR1 gene. Although FXTAS generally affects premutation carriers over 50 years of age, cognitive and psychological symptoms can appear in carriers during childhood, suggesting that the FMR1 premutation affects brain function early in life. Recent work with cultured hippocampal neurons from a premutation (Fmr1 CGG knock-in) mouse model revealed impaired development of early postnatal neurons, consistent with the developmental clinical involvement of premutation carriers. In the current work, we show that the presence of premutation CGG-repeat expansions in the mouse Fmr1 gene alters embryonic neocortical development. Specifically, embryonic premutation mice display migration defects in the neocortex and altered expression of neuronal lineage markers. The current data demonstrate that premutation alleles of the Fmr1 gene are associated with defects in developmental programs operating during prenatal stages of brain formation and provide further evidence that the FMR1 premutation has a neurodevelopmental component.
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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.