Evidence map›Paper›PMID 22483044›Full record

ReviewAnnual review of neuroscience2012

The pathophysiology of fragile X (and what it teaches us about synapses).

Asha L Bhakar, Gül Dölen, Mark F Bear

Abstract readReview
In one paragraph

Review in Annual review of neuroscience, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 236 papers.

0numbers the graph read from it
0cells of the map it votes in
236citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

236 citing papers in PubMed.

  1. Trial
  2. Trial
  3. Article
  4. mNature reviews. Neuroscience · 2026
    Review
  5. Effects of Gallic Acid on Sleep and Circadian Rhythm in aThe Yale journal of biology and medicine · 2026
    Article
  6. Article
  7. Article
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  9. Article
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  11. Review
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  13. Review
  14. Review
  15. Article
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  18. Article
  19. Article
  20. Article

176 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Asha L BhakarHoward Hughes Medical Institute, Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA. abhakar@mit.edu
Gül Dölen
Mark F Bear

Funding

The Etiology of Fragile X Mental Retardation SyndromeF30MH067431 · NIMH · BROWN UNIVERSITY · PI DOLEN, GUL · 2002 to 2008
$262k
Howard Hughes Medical InstituteNIMH NIH HHS F30 MH067431
6 · The paper itself

Abstract

Fragile X is the most common known inherited cause of intellectual disability and autism, and it typically results from transcriptional silencing of FMR1 and loss of the encoded protein, FMRP (fragile X mental retardation protein). FMRP is an mRNA-binding protein that functions at many synapses to inhibit local translation stimulated by metabotropic glutamate receptors (mGluRs) 1 and 5. Recent studies on the biology of FMRP and the signaling pathways downstream of mGluR1/5 have yielded deeper insight into how synaptic protein synthesis and plasticity are regulated by experience. This new knowledge has also suggested ways that altered signaling and synaptic function can be corrected in fragile X, and human clinical trials based on this information are under way.

Indexed as

AnimalsBrainDisease Models, AnimalFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeGene Expression RegulationHumansModels, BiologicalNerve Tissue ProteinsNeuronal PlasticityProtein BiosynthesisReceptors, Metabotropic GlutamateRNASignal TransductionSynapsesFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1metabotropic glutamate receptor type 1Nerve Tissue ProteinsReceptors, Metabotropic GlutamateRNA

Identifiers

PMID22483044
PMCPMC4327822

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.