Cited by 475Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology ResearchRNA Research and Splicing

From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome

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Bagni, Claudia, Greenough, William T.·2005·Nature Reviews Neuroscience

Abstract

The mental retardation protein FMRP is involved in the transport of mRNAs and their translation at synapses. Patients with fragile X syndrome, in whom FMRP is absent or mutated, show deficits in learning and memory that might reflect impairments in the translational regulation of a subset of neuronal mRNAs. The study of FMRP provides important insights into the regulation and functions of local protein synthesis in the neuronal periphery, and increases our understanding of how these functions can produce specific effects at individual synapses.

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Crossref · 10.1038/nrn1667

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  • Fragile X syndrome is usually due to a trinucleotide expansion in FMR1 that results in transcriptional silencing of FMRP expression.

    “Fragile X syndrome (FXS), the most common inherited cause of mental retardation (Bagni and Greenough, 2005; Bassell and Warren, 2008), is usually due to a trinucleotide expansion in the FMR1 gene that results in transcriptional silencing of FMRP (Fragile X mental retardation protein) expression.”
  • Fragile X syndrome results from transcriptional silencing of FMR1, which causes upregulated global dendritic translation rates that may contribute to elevated spine density.

    “Fragile X syndrome results from transcriptional silencing of the FMR1 gene, which in turn causes an upregulation in global dendritic translation rates that may contribute to the elevated spine density observed in the brains of affected individuals42.”

    From Dendritic spine pathology in neuropsychiatric disorders (2011) · cites this paper as [42]

  • FMRP forms large cytoplasmic ribonucleoparticles containing other proteins and RNAs.

    “FMRP forms large cytoplasmic ribonucleoparticles containing several other proteins (61) and RNAs (62,63).”

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Authors
Bagni, C., & Greenough, W. T.
Affiliations
  • University of Rome Tor Vergata (IT)
  • University of Illinois Urbana-Champaign (US)
Corresponding author
Bagni, Claudia
Venue
Nature Reviews Neuroscience
Published
2005-05
Volume
6
Issue
5
Pages
376-387
ISSN
  • 1471-003X (ISSN-L)
  • 1471-0048
OpenAlex
W2000434144
Cited by
475
References
154
Citations by year
2026: 5 · 2025: 5 · 2024: 11 · 2023: 8 · 2022: 8 · 2021: 13 · 2020: 21 · 2019: 12 · 2018: 19 · 2017: 14 · 2016: 19 · 2015: 27 · 2014: 32 · 2013: 33 · 2012: 31
FWCI
4.01
Type
journal article
Language
en
Open access
Locations
  • Nature reviews. Neuroscience (publishedVersion)
  • PubMed (publishedVersion)
  • Lirias (KU Leuven) (submittedVersion, other-oa)
  • Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion)
Funders
  • Ministero della Salute
  • National Institute of Mental Health
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
Keywords
fragile X syndrome, FMRP, mRNA transport, local protein synthesis, synapses, learning and memory impairment, translational regulation
MeSH terms
Animals, Fragile X Syndrome, Humans, Nerve Tissue Proteins, Ribonucleoproteins, Spinal Cord, RNA-Binding Proteins, Protein Transport, Fragile X Mental Retardation Protein, Fragile X Messenger Ribonucleoprotein 1

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