ArticleJournal of neurodevelopmental disorders2013
A quantitative homogeneous assay for fragile X mental retardation 1 protein.
Article in Journal of neurodevelopmental disorders, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.The Journal of molecular diagnostics : JMD · 2024Article
- Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome.Genes · 2024Article
- BET bromodomain inhibitors regulate keratinocyte plasticity.Nature chemical biology · 2021Article
- Rates of protein synthesis are reduced in peripheral blood mononuclear cells (PBMCs) from fragile X individuals.PloS one · 2021Article
- Assays and technologies for developing proteolysis targeting chimera degraders.Future medicinal chemistry · 2020Review
- Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions.PloS one · 2019Article
- Size and methylation mosaicism in males with Fragile X syndrome.Expert review of molecular diagnostics · 2017Article
- Recent advances in assays for the fragile X-related disorders.Human genetics · 2017Review
- Reduced vagal tone in women with theJournal of neurodevelopmental disorders · 2017Article
- Review
- High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells.Stem cells translational medicine · 2015Article
- Cardiac autonomic regulation in autism and Fragile X syndrome: a review.Psychological bulletin · 2015Review
- Modeling fragile X syndrome in the Fmr1 knockout mouse.Intractable & rare diseases research · 2014Review
- Fragile X spectrum disorders.Intractable & rare diseases research · 2014Review
- Parent-delivered touchscreen intervention for children with fragile X syndrome.Intractable & rare diseases research · 2014Article
- Association between macroorchidism and intelligence in FMR1 premutation carriers.American journal of medical genetics. Part A · 2014Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHypermethylation of the fragile X mental retardation 1 gene FMR1 results in decreased expression of FMR1 protein FMRP, which is the underlying cause of Fragile X syndrome - an incurable neurological disorder characterized by mental retardation, anxiety, epileptic episodes and autism. Disease-modifying therapies for Fragile X syndrome are thus aimed at treatments that increase the FMRP expression levels in the brain. We describe the development and characterization of two assays for simple and quantitative detection of FMRP protein.
methodAntibodies coupled to fluorophores that can be employed for time-resolved Förster's resonance energy transfer were used for the development of homogeneous, one-step immunodetection. Purified recombinant human FMRP and patient cells were used as control samples for assay development.
resultsThe assays require small sample amounts, display high stability and reproducibility and can be used to quantify endogenous FMRP in human fibroblasts and peripheral blood mononuclear cells. Application of the assays to FXS patient cells showed that the methods can be used both for the characterization of clinical FXS patient samples as well as primary readouts in drug-discovery screens aimed at increasing endogenous FMRP levels in human cells.
conclusionThis study provides novel quantitative detection methods for FMRP in FXS patient cells. Importantly, due to the simplicity of the assay protocol, the method is suited to be used in screening applications to identify compounds or genetic interventions that result in increased FMRP levels in human cells.
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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.