ArticleHuman molecular genetics2018
Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 35 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
35 citing papers in PubMed, 72 citations in OpenAlex.
- Dysfunctional synaptic competition at dendritic spines in Fragile X syndrome.bioRxiv : the preprint server for biology · 2026Article
- A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1Nature communications · 2026Article
- Article
- Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues.Neurobiology of disease · 2024Review
- Translational modulator ISRIB alleviates synaptic and behavioral phenotypes in Fragile X syndrome.iScience · 2024Article
- The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation.Science advances · 2024Article
- Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome.Genes · 2024Article
- Growth-suppressor microRNAs mediate synaptic overgrowth and behavioral deficits in Fragile X mental retardation protein deficiency.iScience · 2024Article
- FMRP phosphorylation modulates neuronal translation through YTHDF1.Molecular cell · 2023Article
- Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals.Cells · 2023Article
- Emerging roles of the RNA modifications N6-methyladenosine and adenosine-to-inosine in cardiovascular diseases.Molecular therapy. Nucleic acids · 2022Review
- Decreased rates of cerebral protein synthesis in conscious young adults with fragile X syndrome demonstrated by L-[1-Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2022Article
- AKT constitutes a signal-promoted alternative exon-junction complex that regulates nonsense-mediated mRNA decay.Molecular cell · 2022Article
- Vorinostat Corrects Cognitive and Non-Cognitive Symptoms in a Mouse Model of Fragile X Syndrome.The international journal of neuropsychopharmacology · 2022Article
- Dendritic spine and synapse pathology in chromatin modifier-associated autism spectrum disorders and intellectual disability.Frontiers in molecular neuroscience · 2022Review
- Implications of mRNA translation dysregulation for neurological disorders.Seminars in cell & developmental biology · 2021Review
- An "Omic" Overview of Fragile X Syndrome.Biology · 2021Review
- Ythdf is a N6-methyladenosine reader that modulates Fmr1 target mRNA selection and restricts axonal growth in Drosophila.The EMBO journal · 2021Article
- Adenosine ATranslational psychiatry · 2021Article
- Psychosis and Catatonia in Fragile X Syndrome.Cureus · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
15 authors at 7 institutions in 6 countries.
Funding
Abstract
Fragile X syndrome (FXS) is a monogenic form of intellectual disability and autism spectrum disorder caused by the absence of the fragile X mental retardation protein (FMRP). In biological models for the disease, this leads to upregulated mRNA translation and as a consequence, deficits in synaptic architecture and plasticity. Preclinical studies revealed that pharmacological interventions restore those deficits, which are thought to mediate the FXS cognitive and behavioral symptoms. Here, we characterized the de novo rate of protein synthesis in patients with FXS and their relationship with clinical severity. We measured the rate of protein synthesis in fibroblasts derived from 32 individuals with FXS and from 17 controls as well as in fibroblasts and primary neurons of 27 Fmr1 KO mice and 20 controls. Here, we show that levels of protein synthesis are increased in fibroblasts of individuals with FXS and Fmr1 KO mice. However, this cellular phenotype displays a broad distribution and a proportion of fragile X individuals and Fmr1 KO mice do not show increased levels of protein synthesis, having measures in the normal range. Because the same Fmr1 KO animal measures in fibroblasts predict those in neurons we suggest the validity of this peripheral biomarker. Our study offers a potential explanation for the comprehensive drug development program undertaken thus far yielding negative results and suggests that a significant proportion, but not all individuals with FXS, may benefit from the reduction of excessive levels of protein synthesis.
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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.