The DOI matches its Crossref record; 127 of the 127 references it cites were found in a registry or an index.
Dysregulation and restoration of translational homeostasis in fragile X syndrome
Open accessAbstract
Fragile X syndrome (FXS), the most-frequently inherited form of intellectual disability and the most-prevalent single-gene cause of autism, results from a lack of fragile X mental retardation protein (FMRP), an RNA-binding protein that acts, in most cases, to repress translation. Multiple pharmacological and genetic manipulations that target receptors, scaffolding proteins, kinases and translational control proteins can rescue neuronal morphology, synaptic function and behavioural phenotypes in FXS model mice, presumably by reducing excessive neuronal translation to normal levels. Such rescue strategies might also be explored in the future to identify the mRNAs that are critical for FXS pathophysiology.
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“S6K1 has been shown to act downstream of TORC1 to drive EIF4E-regulated initiation of translation (Richter et al., 2015), and dampens translation of FMRP-regulated mRNAs by phosphorylating FMRP (Santoro et al., 2012).”
From Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops (2016) · cites this paper as Richter et al., 2015
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Cites
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FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
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Self-citationThe mGluR theory of fragile X mental retardation
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“…covalent crosslinking between proteins and the mRNAs to which they are bound followed by RNP immunoprecipitation and high-throughput sequencing 64,65 — it was shown that FMRP binds most frequently to the coding regions of mRNAs, with fewer binding sites within the 5 ′ and 3 ′ UTRs (the sites…”
BackgroundMethodmTOR signaling: At the crossroads of plasticity, memory and disease
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Self-citationCLIP Identifies Nova-Regulated RNA Networks in the Brain
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Correction of Fragile X Syndrome in Mice
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Cited by
Sorted by citations
Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838
Local translation in neurons: visualization and function
Holt, C., Martin, K. C., & Schuman, E. (2019) · Nature Structural & Molecular Biology · doi:10.1038/s41594-019-0263-5 · Cited by 463
Excitation/Inhibition Imbalance in Animal Models of Autism Spectrum Disorders
Lee, E., Lee, J., & Kim, E. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.05.011 · Cited by 468
Local protein synthesis is a ubiquitous feature of neuronal pre- and postsynaptic compartments
Hafner, A.-S., Donlin-Asp, P. G., Leitch, B., Herzog, E., & Schuman, E. M. (2019) · Science · doi:10.1126/science.aau3644 · Cited by 431
The molecular biology of FMRP: new insights into fragile X syndrome
Richter, J. D., & Zhao, X. (2021) · Nature Reviews Neuroscience · doi:10.1038/s41583-021-00432-0 · Cited by 390
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Metadata
- Authors
- Richter, J. D., Bassell, G. J., & Klann, E.
- Affiliations
- University of Massachusetts Chan Medical School (US)
- Emory University (US)
- New York University (US)
- Corresponding author
- Klann, Eric
- Venue
- Nature Reviews Neuroscience
- Published
- 2015-09-09
- Volume
- 16
- Issue
- 10
- Pages
- 595-605
- ISSN
- 1471-003X (ISSN-L)
- 1471-0048
- PMC
- PMC4688896
- OpenAlex
- W2237226910
- Cited by
- 275
- References
- 127
- Citations by year
- 2026: 14 · 2025: 21 · 2024: 9 · 2023: 25 · 2022: 32 · 2021: 24 · 2020: 36 · 2019: 24 · 2018: 35 · 2017: 33 · 2016: 20 · 2015: 1
- FWCI
- 3.83
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature reviews. Neuroscience (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS079415, R01NS047384)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD082013, HD082013)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- fragile X syndrome, FMRP, mRNA translation, RNA-binding proteins, intellectual disability, autism spectrum disorder, pharmacological rescue, genetic rescue, synaptic function, neuronal morphology, translational regulation
- MeSH terms
- Animals, Fragile X Syndrome, Homeostasis, Humans, RNA, Messenger, Gene Expression, Mice, Fragile X Messenger Ribonucleoprotein 1
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