Cited by 280Genetics and Neurodevelopmental DisordersRNA and protein synthesis mechanismsNeuroscience and Neuropharmacology Research

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Dysregulation and restoration of translational homeostasis in fragile X syndrome

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Richter, Joel D., Bassell, Gary J., Klann, Eric·2015·Nature Reviews Neuroscience

DOI 10.1038/nrn4001PMC PMC4688896

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Abstract

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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Additional file 4 of Sustained correction of hippocampal neurogenic and cognitive deficits after a brief treatment by Nutlin-3 in a mouse model of fragile X syndrome
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Additional file 7 of Sustained correction of hippocampal neurogenic and cognitive deficits after a brief treatment by Nutlin-3 in a mouse model of fragile X syndrome
Javadi, S., Li, Y., Sheng, J., Zhao, L., Fu, Y., Wang, D., & Zhao, X. (2022) · Figshare · doi:10.6084/m9.figshare.19759502
Additional file 8 of Sustained correction of hippocampal neurogenic and cognitive deficits after a brief treatment by Nutlin-3 in a mouse model of fragile X syndrome
Javadi, S., Li, Y., Sheng, J., Zhao, L., Fu, Y., Wang, D., & Zhao, X. (2022) · Figshare · doi:10.6084/m9.figshare.19759505
Additional file 5 of Sustained correction of hippocampal neurogenic and cognitive deficits after a brief treatment by Nutlin-3 in a mouse model of fragile X syndrome
Javadi, S., Li, Y., Sheng, J., Zhao, L., Fu, Y., Wang, D., & Zhao, X. (2022) · Figshare · doi:10.6084/m9.figshare.19759496
Additional file 6 of Sustained correction of hippocampal neurogenic and cognitive deficits after a brief treatment by Nutlin-3 in a mouse model of fragile X syndrome
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Additional file 1 of Sustained correction of hippocampal neurogenic and cognitive deficits after a brief treatment by Nutlin-3 in a mouse model of fragile X syndrome
Javadi, S., Li, Y., Sheng, J., Zhao, L., Fu, Y., Wang, D., & Zhao, X. (2022) · Figshare · doi:10.6084/m9.figshare.19759484
Additional file 2 of Sustained correction of hippocampal neurogenic and cognitive deficits after a brief treatment by Nutlin-3 in a mouse model of fragile X syndrome
Javadi, S., Li, Y., Sheng, J., Zhao, L., Fu, Y., Wang, D., & Zhao, X. (2022) · Figshare · doi:10.6084/m9.figshare.19759487
Additional file 9 of Sustained correction of hippocampal neurogenic and cognitive deficits after a brief treatment by Nutlin-3 in a mouse model of fragile X syndrome
Javadi, S., Li, Y., Sheng, J., Zhao, L., Fu, Y., Wang, D., & Zhao, X. (2022) · Figshare · doi:10.6084/m9.figshare.19759508
Additional file 2 of Deletion of Fmr1 in parvalbumin-expressing neurons results in dysregulated translation and selective behavioral deficits associated with fragile X syndrome
Kalinowska, M., van der Lei, M. B., Kitiashvili, M., Mamcarz, M., Oliveira, M. M., Longo, F., & Klann, E. (2022) · Figshare · doi:10.6084/m9.figshare.20193627
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Additional file 3 of Sustained correction of hippocampal neurogenic and cognitive deficits after a brief treatment by Nutlin-3 in a mouse model of fragile X syndrome
Javadi, S., Li, Y., Sheng, J., Zhao, L., Fu, Y., Wang, D., & Zhao, X. (2022) · Figshare · doi:10.6084/m9.figshare.19759490
Additional file 1 of Deletion of Fmr1 in parvalbumin-expressing neurons results in dysregulated translation and selective behavioral deficits associated with fragile X syndrome
Kalinowska, M., van der Lei, M. B., Kitiashvili, M., Mamcarz, M., Oliveira, M. M., Longo, F., & Klann, E. (2022) · Figshare · doi:10.6084/m9.figshare.20193624
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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
ORCID: Richter, Joel D.
Bassell, Gary J.
Klann, Eric
Venue: Nature Reviews Neuroscience
Publisher: Springer Science and Business Media LLC
Published: 2015-09-09
Volume: 16
Issue: 10
Pages: 595-605
ISSN: 1471-003X (ISSN-L)
1471-0048
DOI: 10.1038/nrn4001
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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Dysregulation and restoration of translational homeostasis in fragile X syndrome

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