Evidence map›Paper›PMID 40909785›Full record

ArticleResearch square2025

The Curious Case of a Heterozygous Loss-of-Function PSEN1 variant associated with Early-Onset Alzheimer's Disease.

Inmaculada Sanjuan Ruiz, Lutgarde Serneels, Katleen Craessaerts, Alison Goate, Wim Annaert, Lucia Chavez Gutierrez, Yonggang Shi, Nasim Sheikh-Bahaei, Joanna C Jen, Eliana Marisa Ramos and 8 more

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In one paragraph

Article in Research square, 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.

Inmaculada Sanjuan RuizFlanders Institute for Biotechnology (VIB).
Lutgarde SerneelsFlanders Institute for Biotechnology (VIB).
Katleen CraessaertsFlanders Institute for Biotechnology (VIB).
Alison GoateIcahn School of Medicine at Mount Sinai.
Wim AnnaertFlanders Institute for Biotechnology (VIB).
Lucia Chavez GutierrezFlanders Institute for Biotechnology (VIB).
Yonggang ShiUniversity of Southern California.
Nasim Sheikh-BahaeiUniversity of Southern California.
Joanna C JenUniversity of California, Los Angeles.
Eliana Marisa RamosUniversity of California, Los Angeles.
Mihaela CampanUniversity of Southern California.
Pamela M WardUniversity of Southern California.
Shino MagakiUCLA.
Kelly BartloneUCLA.
Harry V VintersUCLA.
David W CraigBeckman Research Institute of City of Hope.
John M RingmanUniversity of California, Los Angeles.
Bart StrooperFlanders Institute for Biotechnology (VIB).

Funding

Imaging CoreU19AG032438 · NIA · WASHINGTON UNIVERSITY · PI BATEMAN, RANDALL J · 2010 to 2025
$53.9M
USCADRC Diversity Supplement PachicanoP30AG066530 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HELENA Chang CHUI, ARTHUR W TOGA · 2020 to 2026
$27.8M
Imaging CoreU01AG032438 · NIA · WASHINGTON UNIVERSITY · PI MORRIS, JOHN · 2008 to 2009
$6.1M
The structural and functional connectome across Alzheimer's disease subtypesU01AG051218 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI RINGMAN, JOHN M · 2015 to 2018
$3.6M
NIA NIH HHS P30 AG066530NIA NIH HHS U01 AG032438NIA NIH HHS U01 AG051218NIA NIH HHS U19 AG032438
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 > 37kDa and a > 27 kDa PSEN1 C-terminal fragment (PSEN1-CTF Conclusions: These findings indicate that

Indexed as

Alzheimer’s diseaseLoss-of-functionPSEN1γ-secretase

Identifiers

PMID40909785
PMCPMC12408025

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Registered trials

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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.