New perspectives on the biology of fragile X syndrome
Open accessAbstract
Fragile X syndrome (FXS) is a trinucleotide repeat disorder caused by a CGG repeat expansion in FMR1, and loss of its protein product FMRP. Recent studies have provided increased support for the role of FMRP in translational repression via ribosomal stalling and the microRNA pathway. In neurons, particular focus has been placed on identifying the signaling pathways such as PI3K and mTOR downstream of group 1 metabotropic glutamate receptors (mGluR1/5) that regulate FMRP. New evidence also suggests that loss of FMRP causes presynaptic dysfunction and abnormal adult neurogenesis. In addition, studies on FXS stem cells especially induced pluripotent stem (iPS) cells and new sequencing efforts hold out promise for deeper understanding of the silencing process and mutation spectrum of FMR1.
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FMRP forms large cytoplasmic ribonucleoparticles containing other proteins and RNAs.
“FMRP forms large cytoplasmic ribonucleoparticles containing several other proteins (61) and RNAs (62,63).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [63]
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References 50 · Cited by 116
- Authors
- Wang, T., Bray, S. M., & Warren, S. T.
- Affiliations
- Emory University (US)
- Corresponding author
- Warren, Stephen T
- Venue
- Current Opinion in Genetics & Development
- Publisher
- Elsevier BV
- Published
- 2012-06
- Volume
- 22
- Issue
- 3
- Pages
- 256-263
- ISSN
- 0959-437X (ISSN-L)
- PMC
- PMC3653273
- OpenAlex
- W2035852054
- Cited by
- 116
- References
- 50
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 3 · 2023: 3 · 2022: 5 · 2021: 6 · 2020: 6 · 2019: 5 · 2018: 7 · 2017: 9 · 2016: 10 · 2015: 17 · 2014: 18 · 2013: 18 · 2012: 6
- FWCI
- 2.35
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Current Opinion in Genetics & Development (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- NIH (HD020521, HD024064)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- fragile X syndrome, FMR1 gene, FMRP, CGG repeat expansion, trinucleotide repeat disorders, protein synthesis inhibition, ribosome stalling, microRNA pathway, PI3K signaling, mTOR signaling, metabotropic glutamate receptors, presynaptic dysfunction, adult neurogenesis, induced pluripotent stem cells, silencing
- MeSH terms
- Alleles, Fragile X Syndrome, Humans, Neurons, Protein Biosynthesis, Receptors, Metabotropic Glutamate, Phosphatidylinositol 3-Kinases, Mutation, Missense, MAP Kinase Signaling System, RNA Interference, Epigenesis, Genetic, Fragile X Messenger Ribonucleoprotein 1, Electrical Synapses, Neurogenesis, Induced Pluripotent Stem Cells, TOR Serine-Threonine Kinases
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