Evidence map›Paper›PMID 40949955›Full record

ArticlebioRxiv : the preprint server for biology2025

Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction.

Caiwei Guo, Kuchuan Chen, Sarat C Vatsavayai, Tetsuya Akiyama, Yi Zeng, Chang Liu, Odilia Sianto, Edith Yang, Juliane Bombosch, Rasheen Powell and 8 more

Abstract readPreprint
PubMed Full text at PMC Publisher
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

5 · Who and what money

Authors and funding

18 authors.

Caiwei GuoDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Kuchuan ChenF.M. Kirby Neurobiology Center, Boston Children's Hospital, and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
Sarat C VatsavayaiMemory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.ORCID 0000-0002-1889-0019
Tetsuya AkiyamaDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Yi ZengDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Chang LiuDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Odilia SiantoDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Edith YangDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Juliane BomboschDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Rasheen PowellF.M. Kirby Neurobiology Center, Boston Children's Hospital, and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
Shannon ZhenF.M. Kirby Neurobiology Center, Boston Children's Hospital, and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.
Shila MekhoubadTrace Neuroscience, South San Francisco, CA 94080, USA.
Ryan D MorrieTrace Neuroscience, South San Francisco, CA 94080, USA.
Georgiana MillerTrace Neuroscience, South San Francisco, CA 94080, USA.
Eric M GreenTrace Neuroscience, South San Francisco, CA 94080, USA.
Leonard PetrucelliDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
William W SeeleyMemory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
Aaron D GitlerDepartment of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.ORCID 0000-0001-8603-1526

Funding

Technology and Remote Assessment CoreU19AG063911 · NIA · MAYO CLINIC ROCHESTER · PI Adam Mark Staffaroni · 2019 to 2026
$120.9M
Early Onset AD Consortium - the LEAD Study (LEADS)U01AG057195 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI APOSTOLOVA, LIANA G, CARRILLO, MARIA C · 2018 to 2023
$70.3M
TDP-43 Loss-of-Function: Biology to BiomarkersP01AG019724 · NIA · UNIVERSITY OF PENNSYLVANIA · PI Jennifer Merrilees · 2002 to 2026
$67.2M
Research Education ComponentP30AG062422 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Katherine P Rankin · 2019 to 2026
$36.9M
PrPSc SPECIFIC INTERACTION WITH NOVEL PrP-Fc FUSION PROTEINSP50AG023501 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI MILLER, BRUCE L · 2004 to 2018
$27.1M
Human Biomarkers CoreU54NS123743 · NINDS · STANFORD UNIVERSITY · PI FRATTA, PIETRO, GITLER, AARON D. · 2021 to 2025
$8.2M
Early Onset Alzheimer's Disease ConsortiumR56AG057195 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI APOSTOLOVA, LIANA G, CARRILLO, MARIA C · 2017 to 2017
$7.7M
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 P01 AG019724NIA NIH HHS P30 AG062422NIA NIH HHS P50 AG023501NIA NIH HHS R01 AG064690NIA NIH HHS R56 AG057195NIA NIH HHS U01 AG057195NIA NIH HHS U19 AG063911NINDS NIH HHS R35 NS137159NINDS NIH HHS U54 NS123743
6 · The paper itself

Abstract

TDP-43 pathology is a defining pathological hallmark of multiple neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A major feature of TDP-43 pathology is its nuclear depletion, leading to the aberrant inclusion of cryptic exons during RNA splicing.

Indexed as

cryptic splicingmembrane excitabilityneurodegenerative diseasesynaptic functionTDP-43

Identifiers

PMID40949955
PMCPMC12424808

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.