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Cited by 73Genetics and Neurodevelopmental DisordersRNA and protein synthesis mechanismsRNA Research and Splicing

Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders

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De Rubeis, Silvia, Bagni, Claudia·2011·Journal of Neurodevelopmental Disorders
DOI 10.1007/s11689-011-9087-2PMC PMC3167042
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Abstract

The Fragile X syndrome (FXS) is a leading cause of intellectual disability (ID) and autism. The disease is caused by mutations or loss of the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein playing multiple functions in RNA metabolism. The expression of a large set of neuronal mRNAs is altered when FMRP is lost, thus causing defects in neuronal morphology and physiology. FMRP regulates mRNA stability, dendritic targeting, and protein synthesis. At synapses, FMRP represses protein synthesis by forming a complex with the Cytoplasmic FMRP Interacting Protein 1 (CYFIP1) and the cap-binding protein eIF4E. Here, we review the clinical, genetic, and molecular aspects of FXS with a special focus on the receptor signaling that regulates FMRP-dependent protein synthesis. We further discuss the FMRP-CYFIP1 complex and its potential relevance for ID and autism.

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  • CYFIP1 translocates between the FMRP-containing protein synthesis machinery and the actin-regulatory complex.

    “This is in agreement with a recent study showing that CYFIP1 translocates between the FMRP-containing protein synthesis machinery and the actin-regulatory complex, and that disrupting CYFIP1's interaction with members of either complex negatively impacted spine maturation in neurons.34”

    From The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines (2014) · cites this paper as [34]

    The section on the FMRP-CYFIP1-eIF4E complex (page unavailable) places CYFIP1 in both an FMRP-associated translation complex and WAVE-associated actin-regulatory machinery. It describes release from eIF4E after synaptic stimulation, but does not say CYFIP1 translocates between the two complexes. The cited sentence’s additional claim about disrupted interactions impairing spine maturation is also not established by these passages. (LLM, conf=0.84)

    Experimental — accuracy not yet measured

  • How both deletions and duplications affecting Cyfip1 expression produce similar neuropsychiatric phenotypes has not yet been addressed.

    “Furthermore, how both deletions and duplications affecting Cyfip1 expression produce similar neuropsychiatric phenotypes has also not yet been addressed.34,35”

    From The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines (2014) · cites this paper as [34]

    The ‘Translational control and Autism Spectrum Disorder’ section reports that both microdeletions and microduplications in the region containing CYFIP1 co-segregate with cognitive disabilities and ASD. ‘Future perspectives’ says little is known about FMRP–CYFIP1 interaction networks, but does not specifically say that how deletions and duplications produce similar phenotypes remains unaddressed. Page numbers are unavailable in our copy. (LLM, conf=0.82)

    Experimental — accuracy not yet measured

  • Disrupting CYFIP1's interaction with members of either the FMRP-containing protein synthesis machinery or the actin-regulatory complex negatively impacts spine maturation in neurons.

    “This is in agreement with a recent study showing that CYFIP1 translocates between the FMRP-containing protein synthesis machinery and the actin-regulatory complex, and that disrupting CYFIP1's interaction with members of either complex negatively impacted spine maturation in neurons.34”

    From The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines (2014) · cites this paper as [34]

    The section ‘The FMRP-CYFIP1-eIF4E complex: regulation of translational initiation’ (page unavailable) describes CYFIP1 as a partner of FMRP and a component of WAVE-associated actin-regulatory machinery. It also reports activity-dependent release of CYFIP1 from eIF4E. It does not report CYFIP1 translocating between the two complexes or show that disrupting its interactions with either complex impairs neuronal spine maturation; the cited paper is a review, not the recent study described. (LLM, conf=0.85)

    Experimental — accuracy not yet measured

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Cited by

Sorted by citations

Authors
De Rubeis, S., & Bagni, C.
Affiliations
University of Rome Tor Vergata (IT)
Corresponding author
Bagni, Claudia
ORCID
Bagni, Claudia
Venue
Journal of Neurodevelopmental Disorders
Publisher
Springer Science and Business Media LLC
Published
2011-08-13
Volume
3
Issue
3
Pages
257-269
ISSN
  • 1866-1947 (ISSN-L)
  • 1866-1955
DOI
10.1007/s11689-011-9087-2
PMC
PMC3167042
OpenAlex
W2345431949
Cited by
73
References
16
Citations by year
2026: 1 · 2025: 1 · 2024: 2 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 1 · 2019: 5 · 2018: 2 · 2017: 3 · 2016: 4 · 2015: 6 · 2014: 17 · 2013: 9 · 2012: 13
FWCI
7.78
Type
journal article
Language
en
Open access
Licence
cc-by-nc
Locations
  • Journal of Neurodevelopmental Disorders (publishedVersion, cc-by-nc)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion)
  • Lirias (submittedVersion)
Funders
Fonds Wetenschappelijk Onderzoek
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 › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
Keywords
fragile X syndrome, FMRP, autism spectrum disorder, intellectual disability, RNA-binding proteins, mRNA stability, synaptic protein synthesis, CYFIP1, eIF4E, receptor signaling

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