Evidence map›Paper›PMID 22044765›Full record

ArticleMolecular and cellular neurosciences2012

Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A.

Janelle E O'Brien, Valerie L Drews, Julie M Jones, Jason C Dugas, Ben A Barres, Miriam H Meisler

Open access · greenAbstract read
In one paragraph

Article in Molecular and cellular neurosciences, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
1.3field-weighted citation impact, top 21% of its field
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

34 citing papers in PubMed, 51 citations in OpenAlex.

  1. Review
  2. The Role of mRNA Alternative Processing in Mammalian Neurodevelopment.International journal of molecular sciences · 2025
    Review
  3. Review
  4. Microglial activation is inhibited by selective anti-seizure medications.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2025
    Article
  5. Article
  6. Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-FunctionThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2024
    Article
  7. Characterization of NaLife science alliance · 2024
    Article
  8. Rbfox1 regulates alternative splicing of Nrcam in primary sensory neurons to mediate peripheral nerve injury-induced neuropathic pain.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024
    Article
  9. Article
  10. Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2023
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
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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

6 authors at 2 institutions in 1 country.

Janelle E O'BrienDepartment of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618, USA.
Valerie L Drews
Julie M Jones
Jason C Dugas
Ben A Barres
Miriam H Meisler
University of Michigan–Ann Arbor · USStanford Medicine · US

Funding

PREDOCTORAL TRAINING IN GENETICST32GM007544 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MORAN, JOHN V. · 1985 to 2022
$11.3M
The neuronal sodium channel gene SCN8AR01NS034509 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MIRIAM H MEISLER · 1996 to 2026
$9.5M
NIGMS NIH HHS T32 GM 007544NIGMS NIH HHS T32 GM007544NINDS NIH HHS R01 NS034509NINDS NIH HHS R01 NS34509
6 · The paper itself

Abstract

The SCN8A gene encodes the voltage-gated sodium channel Na(v)1.6, a major channel in neurons of the CNS and PNS. SCN8A contains two alternative exons,18N and 18A, that exhibit tissue specific splicing. In brain, the major SCN8A transcript contains exon 18A and encodes the full-length sodium channel. In other tissues, the major transcript contains exon 18N and encodes a truncated protein, due to the presence of an in-frame stop codon. Selection of exon 18A is therefore essential for generation of a functional channel protein, but the proteins involved in this selection have not been identified. Using a 2.6 kb Scn8a minigene containing exons 18N and 18A, we demonstrate that co-transfection with Fox-1 or Fox-2 initiates inclusion of exon 18A. This effect is dependent on the consensus Fox binding site located 28 bp downstream of exon 18A. We examined the alternative splicing of human SCN8A and found that the postnatal switch to exon 18A is completed later than 10 months of age. In purified cell populations, transcripts containing exon 18A predominate in neurons but are not present in oligodendrocytes or astrocytes. Transcripts containing exon 18N appear to be degraded by nonsense-mediated decay in HEK cells. Our data indicate that RBFOX proteins contribute to the cell-specific expression of Na(v)1.6 channels in mature neurons.

Indexed as

Alternative SplicingAnimalsBinding SitesBrainCell LineCells, CulturedExonsGene Expression Regulation, DevelopmentalHEK293 CellsHumansNAV1.6 Voltage-Gated Sodium ChannelNerve Tissue ProteinsNeuronsRatsRepressor ProteinsRNA-Binding ProteinsNAV1.6 Voltage-Gated Sodium ChannelNerve Tissue ProteinsRBFOX1 protein, humanRBFOX2 protein, humanRepressor ProteinsRNA-Binding ProteinsRNA Splicing FactorsSCN8A protein, humanScn8a protein, ratSodium Channels

Identifiers

PMID22044765
PMCPMC3278527
OpenAlexW2009882814

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.