Evidence map›Paper›PMID 41127441›Full record

ArticleMolecular neurodegeneration advances2025

The curious case of a heterozygous loss-of-function

Inmaculada Sanjuan-Ruiz, Lutgarde Serneels, Katleen Craessaerts, Alison Goate, Wim Annaert, Lucía Chávez-Gutiérrez, Yonggang Shi, Nasim Sheikh-Bahaei, Joanna C Jen, Eliana Marisa Ramos and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular neurodegeneration advances, 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

19 authors.

Inmaculada Sanjuan-RuizCentre for Brain and Disease Research, Flanders Institute for Biotechnology (VIB), Leuven, Belgium.
Lutgarde SerneelsCentre for Brain and Disease Research, Flanders Institute for Biotechnology (VIB), Leuven, Belgium.
Katleen CraessaertsCentre for Brain and Disease Research, Flanders Institute for Biotechnology (VIB), Leuven, Belgium.
Alison GoateRonald M, Loeb Center for Alzheimer's Disease, Dept. of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY USA.
Wim AnnaertCentre for Brain and Disease Research, Flanders Institute for Biotechnology (VIB), Leuven, Belgium.
Lucía Chávez-GutiérrezCentre for Brain and Disease Research, Flanders Institute for Biotechnology (VIB), Leuven, Belgium.
Yonggang ShiMark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA USA.
Nasim Sheikh-BahaeiDepartment of Radiology, University of Southern California, Los Angeles, CA USA.
Joanna C JenDepartment of Neurology, University of California, Los Angeles, Los Angeles, CA USA.
Eliana Marisa RamosDepartment of Neurology, University of California, Los Angeles, Los Angeles, CA USA.
Mihaela CampanUSC Clinical Laboratories Molecular Pathology, Keck Medical Center, Los Angeles, USA.
Pamela M WardUSC Clinical Laboratories Molecular Pathology, Keck Medical Center, Los Angeles, USA.
Shino MagakiDepartment of Pathology and Laboratory Medicine, UCLA, Los Angeles, USA.
Kelly BartloneDepartment of Pathology and Laboratory Medicine, UCLA, Los Angeles, USA.
Harry V VintersDepartment of Pathology and Laboratory Medicine, UCLA, Los Angeles, USA.
Dominantly Inherited Alzheimer Network
David W CraigBeckman Research Institute of City of Hope, Los Angeles, USA.
John M RingmanAlzheimer's Disease Research Center, Keck School of Medicine, Los Angeles, USA.
Bart De StrooperCentre for Brain and Disease Research, Flanders Institute for Biotechnology (VIB), Leuven, Belgium.

Funding

USCADRC Diversity Supplement PachicanoP30AG066530 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HELENA Chang CHUI · 2020 to 2026
$27.8M
NIA NIH HHS P30 AG066530
6 · The paper itself

Abstract

Background: Over 300 mutations in Methods: We identified a novel heterozygous Results: In overexpression models, downstream ATGs serve as alternative starting codons, generating a > 37 kDa and a > 27 kDa PSEN1 C-terminal fragment (PSEN1-CTF Conclusions: These findings indicate that Supplementary Information: The online version contains supplementary material available at 10.1186/s44477-025-00004-x.

Indexed as

Alzheimer’s diseaseloss-of-functionPSEN1γ-secretase

Identifiers

PMID41127441
PMCPMC12537781

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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.