Evidence map›Paper›PMID 40672339›Full record

ArticlebioRxiv : the preprint server for biology2025

Nonsense-mediated decay masks cryptic splicing events caused by TDP-43 loss.

Yi Zeng, Odilia Sianto, Anastasiia Lovchykova, Chang Liu, Tetsuya Akiyama, Leonard Petrucelli, Aaron D Gitler

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Yi ZengDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Odilia SiantoDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Anastasiia LovchykovaDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Chang LiuDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Tetsuya AkiyamaDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Leonard PetrucelliDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Aaron D GitlerDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0001-8603-1526

Funding

Project 3: Neuropathology of the multi-proteinopathy of c9FTD/ALS.P01NS084974 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2014 to 2024
$17.6M
Expanding insights into FTD disease mechanismsR35NS097273 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2017 to 2024
$10.6M
Human Biomarkers CoreU54NS123743 · NINDS · STANFORD UNIVERSITY · PI GITLER, AARON D. · 2021 to 2025
$8.2M
Stanford Training Program in Aging ResearchT32AG047126 · NIA · STANFORD UNIVERSITY · PI VYJEYANTHI S PERIYAKOIL, TONY WYSS-CORAY · 2014 to 2026
$4.3M
Defining modifiers and mechanisms of RAN translationR01AG064690 · NIA · STANFORD UNIVERSITY · PI Aaron D. Gitler, JOSEPH D PUGLISI · 2024 to 2026
$2.3M
Innovating next generation technologies to define mechanisms of neurodegenerative disease and devise therapeutic strategiesR35NS137159 · NINDS · STANFORD UNIVERSITY · PI Aaron D. Gitler · 2025 to 2026
$2.3M
NIA NIH HHS R01 AG064690NIA NIH HHS T32 AG047126NINDS NIH HHS P01 NS084974NINDS NIH HHS R35 NS097273NINDS NIH HHS R35 NS137159NINDS NIH HHS U54 NS123743
6 · The paper itself

Abstract

In frontotemporal dementia and amyotrophic lateral sclerosis, the RNA-binding protein TDP-43 is lost from the nucleus, leading to cryptic exon inclusion events in dozens of neuronal genes. Here, we show that many cryptic splicing events have been missed by standard RNA-sequencing analyses because they are substrates for nonsense-mediated decay. By inhibiting nonsense-mediated decay in neurons we unmask hundreds of novel cryptic splicing events caused by TDP-43 depletion, providing a new picture to TDP-43 loss of function in neurons.

Identifiers

PMID40672339
PMCPMC12265704

What Socratic holds

Textmetadata
LicenceCC BY-NC
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 Socratic graph.