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
Abstract readPreprint
In one paragraphArticle 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.
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What it found
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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 registryThe trial behind it
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4 · The recordCorrections and comments
5 · Who and what moneyAuthors 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
$53.9MUSCADRC Diversity Supplement PachicanoP30AG066530 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HELENA Chang CHUI, ARTHUR W TOGA · 2020 to 2026
$27.8MImaging CoreU01AG032438 · NIA · WASHINGTON UNIVERSITY · PI BATEMAN, RANDALL J · 2008 to 2009
$6.1MThe structural and functional connectome across Alzheimer's disease subtypesU01AG051218 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI RINGMAN, JOHN M · 2015 to 2018
$3.6MNIA NIH HHS P30 AG066530NIA NIH HHS U01 AG032438NIA NIH HHS U01 AG051218NIA NIH HHS U19 AG032438
6 · The paper itselfAbstract
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
What Socratic holds
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