Evidence map›Paper›PMID 41678398›Full record

ArticleThe Journal of clinical investigation2026

Alternative splicing-triggered mRNA decay informs splice-switching targets for neurodevelopmental disorders.

Kaining Hu, Runwei Yang, Jiaming Qiu, Xinran Feng, Kayleigh J LaPre, Jessica Tanouye, Yalan Yang, Xiaochang Zhang

Abstract read
In one paragraph

Article in The Journal of clinical investigation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

8 authors.

Kaining Hu
Runwei Yang
Jiaming Qiu
Xinran Feng
Kayleigh J LaPre
Jessica Tanouye
Yalan Yang
Xiaochang Zhang

Funding

Rescuing SYNGAP1 haploinsufficiency by redirecting alternative splicingR01MH130594 · NIMH · UNIVERSITY OF CHICAGO · PI Xiaochang Zhang · 2023 to 2026
$2.4M
Mechanisms of Cell-type-specific pre-mRNA SplicingR35GM152177 · NIGMS · UNIVERSITY OF CHICAGO · PI Xiaochang Zhang · 2024 to 2026
$1.4M
NIGMS NIH HHS R35 GM152177NIMH NIH HHS R01 MH130594
6 · The paper itself

Abstract

Alternative splicing-triggered nonsense-mediated mRNA decay (AS-NMD) critically regulates gene expression, but the extent to which neuronal genes are regulated by AS-NMD remains understudied. Here, we identified over 3,000 developmentally regulated AS-NMD exons in mouse and human brains and validated them in cultured neurons. AS-NMD suppresses synaptic genes during brain development and differentially regulates more than 200 causal genes for neurodevelopmental disorders (NDDs). We detected a poison exon in GRIA2 and identified splice-switching antisense oligonucleotides that suppressed GRIA2 NMD and increased its functional isoforms. In summary, this study uncovers genes repressed by AS-NMD in the brain and nominates amenable splice-switching targets for treating dominant NDDs such as autism spectrum disorders and developmental epileptic encephalopathy.

Indexed as

Alternative SplicingNeurodevelopmental DisordersNonsense Mediated mRNA DecayAnimalsBrainExonsHumansMiceNeuronsReceptors, AMPARNA, MessengerReceptors, AMPARNA, MessengerDevelopmentEpilepsyNeurodevelopmentNeuroscienceRNA processing

Identifiers

PMID41678398
PMCPMC13078869

What OpenQuestion holds

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LicenceCC BY
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.