ArticleHuman mutation2014
Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
39 citing papers in PubMed, 61 citations in OpenAlex.
- Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome.Journal of neurodevelopmental disorders · 2020Trial
- Astrocytic GABA controls fidelity of temporal cortical processing in Fragile X Syndrome.Neurobiology of disease · 2026Article
- Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders.Nature genetics · 2025Review
- Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals.Cells · 2023Article
- A new strategy to uncover fragile X proteomic biomarkers using the nascent proteome of peripheral blood mononuclear cells (PBMCs).Scientific reports · 2021Article
- An "Omic" Overview of Fragile X Syndrome.Biology · 2021Review
- Adenosine ATranslational psychiatry · 2021Article
- Striking a balance: PIPExploration of neuroprotective therapy · 2021Article
- Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment.Molecular autism · 2020Article
- Article
- Transcriptome signature analysis repurposes trifluoperazine for the treatment of fragile X syndrome in mouse model.Communications biology · 2020Article
- Molecular Biomarkers in Fragile X Syndrome.Brain sciences · 2019Review
- Altered steady state and activity-dependent de novo protein expression in fragile X syndrome.Nature communications · 2019Article
- Modelling Protein Synthesis as A Biomarker in Fragile X Syndrome Patient-Derived Cells.Brain sciences · 2019Review
- PI3Kβ-A Versatile Transducer for GPCR, RTK, and Small GTPase Signaling.Endocrinology · 2019Review
- Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.Human molecular genetics · 2018Article
- Of Men and Mice: Modeling the Fragile X Syndrome.Frontiers in molecular neuroscience · 2018Article
- Defective phosphoinositide metabolism in autism.Journal of neuroscience research · 2017Review
- Enhanced expression of ADCY1 underlies aberrant neuronal signalling and behaviour in a syndromic autism model.Nature communications · 2017Article
- Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells.Stem cells (Dayton, Ohio) · 2017Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
Abstract
Fragile X syndrome (FXS) is the most frequent cause of inherited intellectual disability and autism. It is caused by the absence of the fragile X mental retardation 1 (FMR1) gene product, fragile X mental retardation protein (FMRP), an RNA-binding protein involved in the regulation of translation of a subset of brain mRNAs. In Fmr1 knockout mice, the absence of FMRP results in elevated protein synthesis in the brain as well as increased signaling of many translational regulators. Whether protein synthesis is also dysregulated in FXS patients is not firmly established. Here, we demonstrate that fibroblasts from FXS patients have significantly elevated rates of basal protein synthesis along with increased levels of phosphorylated mechanistic target of rapamycin (p-mTOR), phosphorylated extracellular signal regulated kinase 1/2, and phosphorylated p70 ribosomal S6 kinase 1 (p-S6K1). The treatment with small molecules that inhibit S6K1 and a known FMRP target, phosphoinositide 3-kinase (PI3K) catalytic subunit p110β, lowered the rates of protein synthesis in both control and patient fibroblasts. Our data thus demonstrate that fibroblasts from FXS patients may be a useful in vitro model to test the efficacy and toxicity of potential therapeutics prior to clinical trials, as well as for drug screening and designing personalized treatment approaches.
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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.