Evidence map›Paper›PMID 39937857›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2025

Lien Nguyen, Ramadan Ajredini, Shu Guo, Lisa E L Romano, Rodrigo F Tomas, Logan R Bell, Paul T Ranum, Tao Zu, Monica Bañez Coronel, Chase P Kelley and 20 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
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

30 authors.

Lien NguyenCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.ORCID 0000-0001-5237-2576
Ramadan AjrediniCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.
Shu GuoCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.ORCID 0000-0003-1113-519X
Lisa E L RomanoCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.ORCID 0000-0003-3531-5013
Rodrigo F TomasCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.ORCID 0009-0007-5972-0626
Logan R BellCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.ORCID 0009-0005-9403-888X
Paul T RanumRaymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104.
Tao ZuCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.
Monica Bañez CoronelCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.ORCID 0000-0002-1511-4209
Chase P KelleyCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.
Javier Redding-OchoaDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287.
Evangelos NizamisDivision of Medical Genetics School of Medicine, University of Washington, Seattle, WA 98195.ORCID 0009-0009-5866-0400
Alexandra MelloniDepartment of Neurology, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Boston, MA 02114.
Theresa R ConnorsDepartment of Neurology, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Boston, MA 02114.
Angelica GaonaDepartment of Neurology, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Boston, MA 02114.
Kiruphagaran ThangarajuCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.
Olga PletnikovaDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287.ORCID 0000-0001-6516-4944
H Brent ClarkDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455.ORCID 0000-0002-8992-8184
Beverly L DavidsonRaymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104.
Anthony T YachnisCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.
Todd E GoldeCenter for Translation Research in Neurodegenerative Disease, College of Medicine, University of Florida, Gainesville, FL 32610.
XiangYang LouDepartment of Biostatistics, University of Florida, Gainesville, FL 32611.
Eric T WangCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.ORCID 0000-0003-2655-5525
Alan E RentonRonald M. Loeb Center for Alzheimer's Disease, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Alison GoateRonald M. Loeb Center for Alzheimer's Disease, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029.ORCID 0000-0002-0576-2472
Paul N ValdmanisDivision of Medical Genetics School of Medicine, University of Washington, Seattle, WA 98195.
Stefan ProkopCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.
Juan C TroncosoDepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287.
Bradley T HymanDepartment of Neurology, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Boston, MA 02114.ORCID 0000-0002-7959-9401
Laura P W RanumCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.ORCID 0000-0001-9808-9661

Funding

National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8M
Research Education ComponentP30AG066514 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Margaret Sewell · 2020 to 2026
$31.0M
Research Education ComponentP30AG066507 · NIA · JOHNS HOPKINS UNIVERSITY · PI Corinne Pettigrew · 2020 to 2026
$29.3M
Social Determinants of Health, Race/Ethnicity, and White Matter HyperintensitiesP30AG066506 · NIA · UNIVERSITY OF FLORIDA · PI David E Vaillancourt · 2020 to 2026
$25.6M
University of Florida - Mt. Sinai Medical Center AD Research CenterP50AG047266 · NIA · UNIVERSITY OF FLORIDA · PI GOLDE, TODD E · 2015 to 2019
$7.3M
Molecular Genetic Characterization of SCA8R37NS040389 · NINDS · UNIVERSITY OF FLORIDA · PI RANUM, LAURA P.W · 2015 to 2021
$4.5M
Molecular effects of metformin, PKR and TBI on C9orf72 ALS/FTDRF1NS098819 · NINDS · UNIVERSITY OF FLORIDA · PI RANUM, LAURA P.W, ZU, TAO · 2022 to 2022
$2.2M
Novel repeat associated non-AUG (RAN) proteins in sALS, sFTD and SBMA: shared pathological features and unifying therapeutic opportunitiesRF1NS126536 · NINDS · UNIVERSITY OF FLORIDA · PI NGUYEN, LIEN, RANUM, LAURA P.W · 2022 to 2022
$1.9M
Novel approaches to identify tandem repeat expansions in neurodegenerative diseaseR01NS122766 · NINDS · UNIVERSITY OF WASHINGTON · PI Paul Nils Valdmanis · 2022 to 2026
$1.9M
Identifying and understanding the role of repeat RNAs and RAN proteins in Alzheimer's diseaseR00AG065511 · NIA · UNIVERSITY OF FLORIDA · PI NGUYEN, LIEN · 2023 to 2025
$740k
Identifying and understanding the role of repeat RNAs and RAN proteins in Alzheimer's diseaseK99AG065511 · NIA · UNIVERSITY OF FLORIDA · PI NGUYEN, LIEN · 2020 to 2021
$153k
DOD | U.S. Army (USA) W81XWH2210592HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R01NS122766HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R37NS040389 RF1NS126536 RF1-NS098819HHS | NIH | National Institute on Aging (NIA) K99AG065511 R00AG065511HHS | NIH | National Institute on Aging (NIA) NIH P30 AG0066507HHS | NIH | National Institute on Aging (NIA) P30AG066506 P50AG047266NIA NIH HHS K99 AG065511NIA NIH HHS P30 AG066506NIA NIH HHS P30 AG066507NIA NIH HHS P30 AG066514NIA NIH HHS P50 AG047266NIA NIH HHS R00 AG065511NIA NIH HHS U24 AG021886NINDS NIH HHS R01 NS122766NINDS NIH HHS R37 NS040389NINDS NIH HHS RF1 NS098819NINDS NIH HHS RF1 NS126536
6 · The paper itself

Abstract

Alzheimer's disease (AD) affects more than 10% of the population ≥65 y of age, but the underlying biological risks of most AD cases are unclear. We show anti-poly-glycine-arginine (a-polyGR) positive aggregates frequently accumulate in sporadic AD autopsy brains (45/80 cases). We hypothesize that these aggregates are caused by one or more polyGR-encoding repeat expansion mutations. We developed a CRISPR/deactivated-Cas9 enrichment strategy to identify candidate GR-encoding repeat expansion mutations directly from genomic DNA isolated from a-polyGR(+) AD cases. Using this approach, we isolated an interrupted (GGGAGA)

Indexed as

Alzheimer DiseaseCaspase 8DNA Repeat ExpansionIntronsPeptidesAgedAged, 80 and overBrainFemaleGenetic Predisposition to DiseaseHumansMaleCASP8 protein, humanCaspase 8PeptidespolyglycineAlzheimer’s diseasemicrosatellite expansion mutationsprotein aggregatesRAN proteinsrepeat associated non-AUG (RAN) translation

Identifiers

PMID39937857
PMCPMC11848317

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.