Evidence map›Paper›PMID 34719765›Full record

ArticleActa neuropathologica2022

Genome-wide association study and functional validation implicates JADE1 in tauopathy.

Kurt Farrell, SoongHo Kim, Natalia Han, Megan A Iida, Elias M Gonzalez, Marcos Otero-Garcia, Jamie M Walker, Timothy E Richardson, Alan E Renton, Shea J Andrews and 79 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Acta neuropathologica, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
3.8field-weighted citation impact, top 5% of its field
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

24 citing papers in PubMed, 39 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Primary age-related tauopathy.Acta neuropathologica · 2025
    Review
  5. Celebrating neuropathology's contributions to Alzheimer's Disease Research Centers.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
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  6. Digital pathology in tau research: A comparison of QuPath and HALO.Journal of neuropathology and experimental neurology · 2025
    Article
  7. Article
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  11. Article
  12. Article
  13. Article
  14. Review
  15. Novel avenues of tau research.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
    Review
  16. Identification of Tau Toxicity Modifiers in the Drosophila Eye.Methods in molecular biology (Clifton, N.J.) · 2024
    Article
  17. An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis).Movement disorders : official journal of the Movement Disorder Society · 2023
    Article
  18. Article
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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

89 authors at 20 institutions in 4 countries.

Kurt FarrellDepartment of Pathology, Neuropathology Brain Bank and Research CoRE, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA.
SoongHo KimDepartment of Pathology, Neuropathology Brain Bank and Research CoRE, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA.
Natalia HanDepartment of Pathology, Neuropathology Brain Bank and Research CoRE, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA.
Megan A IidaDepartment of Pathology, Neuropathology Brain Bank and Research CoRE, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA.
Elias M GonzalezDepartment of Cell Systems and Anatomy, Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, the Sam and Ann Barshop Institute for Longevity and Aging Studies, University of Texas Health San Antonio, San Antonio, TX, 78229, USA.
Marcos Otero-GarciaDepartment of Pathology and Laboratory Medicine, Division of Neuropathology, University of California, Los Angeles, CA, USA.
Jamie M WalkerDepartment of Pathology and Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, UT Health San Antonio, San Antonio, TX, USA.
Timothy E RichardsonDepartment of Pathology and Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, UT Health San Antonio, San Antonio, TX, USA.
Alan E RentonNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Shea J AndrewsNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Brian Fulton-HowardNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jack HumphreyNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Ricardo A VialleNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Kathryn R BowlesDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Katia de Paiva LopesNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Kristen WhitneyDepartment of Pathology, Neuropathology Brain Bank and Research CoRE, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA.
Diana K DangoorDepartment of Pathology, Neuropathology Brain Bank and Research CoRE, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA.
Hadley WalshDepartment of Pathology, Neuropathology Brain Bank and Research CoRE, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA.
Edoardo MarcoraNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Marco M HeftiDepartment of Pathology, University of Iowa, Iowa City, IA, USA.
Alicia CasellaDepartment of Pathology, Neuropathology Brain Bank and Research CoRE, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA.
Cheick T SissokoDepartment of Pathology, Neuropathology Brain Bank and Research CoRE, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA.
Manav KapoorNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Gloriia NovikovaNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Evan UdineNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Garrett WongNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Weijing TangDepartment of Pathology, Stanford University, Palo Alto, USA.
Tushar BhangaleDepartment of Human Genetics, Genentech, South San Francisco, CA, USA.
Julie HunkapillerDepartment of Human Genetics, Genentech, South San Francisco, CA, USA.
Gai AyalonNeumora Therapeutics, South San Francisco, CA, USA.
Robert R GrahamMaze Therapeutics, San Francisco, CA, USA.
Jonathan D CherryDepartment of Pathology (Neuropathology), VA Medical Center, Boston University School of Medicine, Boston, MA, USA.
Etty P CortesDepartment of Pathology, Neuropathology Brain Bank and Research CoRE, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA.
Valeriy Y BorukovDepartment of Pathology, Neuropathology Brain Bank and Research CoRE, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA.
Ann C McKeeDepartment of Pathology (Neuropathology), VA Medical Center, Boston University School of Medicine, Boston, MA, USA.
Thor D SteinDepartment of Pathology (Neuropathology), VA Medical Center, Boston University School of Medicine, Boston, MA, USA.
Jean-Paul VonsattelDepartment of Pathology and Cell Biology, Department of Neurology, and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA.
Andy F TeichDepartment of Pathology and Cell Biology, Department of Neurology, and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA.
Marla GearingDepartment of Pathology and Laboratory Medicine (Neuropathology) and Neurology, Emory University School of Medicine, Atlanta, GA, USA.
Jonathan GlassDepartment of Pathology and Laboratory Medicine (Neuropathology) and Neurology, Emory University School of Medicine, Atlanta, GA, USA.
Juan C TroncosoDepartment of Pathology, Division of Neuropathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Matthew P FroschDepartment of Neurology and Pathology, Harvard Medical School and Massachusetts General Hospital, Charlestown, MA, USA.
Bradley T HymanDepartment of Neurology and Pathology, Harvard Medical School and Massachusetts General Hospital, Charlestown, MA, USA.
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Melissa E MurrayDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Johannes AttemsTranslational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Margaret E FlanaganDepartment of Pathology (Neuropathology), Northwestern Cognitive Neurology and Alzheimer Disease Center, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Qinwen MaoDepartment of Pathology (Neuropathology), Northwestern Cognitive Neurology and Alzheimer Disease Center, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
M-Marsel MesulamDepartment of Pathology (Neuropathology), Northwestern Cognitive Neurology and Alzheimer Disease Center, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Sandra WeintraubDepartment of Pathology (Neuropathology), Northwestern Cognitive Neurology and Alzheimer Disease Center, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Randy L WoltjerDepartment of Pathology, Oregon Health Sciences University, Portland, OR, USA.
Thao PhamDepartment of Pathology, Oregon Health Sciences University, Portland, OR, USA.
Julia KoflerDepartment of Pathology (Neuropathology), University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Julie A SchneiderDepartments of Pathology (Neuropathology) and Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.
Lei YuDepartments of Pathology (Neuropathology) and Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.
Dushyant P PurohitDepartment of Pathology, Neuropathology Brain Bank and Research CoRE, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA.
Vahram HaroutunianNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Patrick R HofNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Sam GandyDepartment of Psychiatry, Alzheimer's Disease Research Center, James J. Peters VA Medical Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Mary SanoDepartment of Psychiatry, Alzheimer's Disease Research Center, James J. Peters VA Medical Center, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Thomas G BeachDepartment of Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, USA.
Wayne PoonDepartment of Neurology, Department of Epidemiology, Institute for Memory Impairments and Neurological Disorders, UC Irvine, Irvine, CA, USA.
Claudia H KawasDepartment of Neurology, Department of Neurobiology and Behavior, Institute for Memory Impairments and Neurological Disorders, UC Irvine, Irvine, CA, USA.
María M CorradaDepartment of Neurology, Department of Epidemiology, Institute for Memory Impairments and Neurological Disorders, UC Irvine, Irvine, CA, USA.
Robert A RissmanDepartment of Neurosciences University of California and the Veterans Affairs San Diego Healthcare System, La Jolla, San Diego, California, USA.
Jeff MetcalfDepartment of Neurosciences University of California and the Veterans Affairs San Diego Healthcare System, La Jolla, San Diego, California, USA.
Sara ShuldbergDepartment of Neurosciences University of California and the Veterans Affairs San Diego Healthcare System, La Jolla, San Diego, California, USA.
Bahar SalehiDepartment of Neurosciences University of California and the Veterans Affairs San Diego Healthcare System, La Jolla, San Diego, California, USA.
Peter T NelsonDepartment of Pathology (Neuropathology) and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA.
John Q TrojanowskiCenter for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Edward B LeeCenter for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
David A WolkDepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Corey T McMillanDepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
C Dirk KeeneDepartment of Laboratory Medicine and Pathology, University of f Medicine, Seattle, WA, USA.
Caitlin S LatimerDepartment of Laboratory Medicine and Pathology, University of f Medicine, Seattle, WA, USA.
Thomas J MontineDepartment of Laboratory Medicine and Pathology, University of f Medicine, Seattle, WA, USA.
Gabor G KovacsLaboratory Medicine Program, Krembil Brain Institute, University Health Network, Toronto, ON, Canada.
Mirjam I LutzInstitute of Neurology, Medical University of Vienna, Vienna, Austria.
Peter FischerDepartment of Psychiatry, Danube Hospital, Vienna, Austria.
Richard J PerrinDepartment of Pathology and Immunology, Department of Neurology, Knight Alzheimer Disease Research Center, Washington University School of Medicine, St. Louis, MO, USA.
Nigel J CairnsCollege of Medicine and Health, University of Exeter, Exeter, UK.
Erin E FranklinDepartment of Pathology and Immunology, Department of Neurology, Knight Alzheimer Disease Research Center, Washington University School of Medicine, St. Louis, MO, USA.
Herbert T CohenDepartments of Medicine, Pathology, and Pharmacology, Boston University School of Medicine and Boston Medical Center, Boston, MA, USA.
Towfique RajNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Inma CobosDepartment of Pathology, Stanford University, Palo Alto, USA.
Bess FrostDepartment of Cell Systems and Anatomy, Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, the Sam and Ann Barshop Institute for Longevity and Aging Studies, University of Texas Health San Antonio, San Antonio, TX, 78229, USA.
Alison GoateNash Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Charles L White IiiDepartment of Pathology (Neuropathology), University of Texas Southwestern Medical School, Dallas, TX, USA.
John F CraryDepartment of Pathology, Neuropathology Brain Bank and Research CoRE, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place Box 1194, New York, NY, 10029, USA. john.crary@mountsinai.org.ORCID 0000-0002-0556-293X
Allen Institute for Brain Science · USBoston University · USNorthwestern University · USUniversity of Pennsylvania · USVA San Diego Healthcare System · USJames J. Peters VA Medical Center · USUniversity of California, Irvine · USUniversity of Washington · USColumbia University Irving Medical Center · USEmory University · USHarvard University · USInstitute for Neurodegenerative Disorders · USMayo Clinic in Florida · USOregon Health & Science University · USRush University Medical Center · USStanford University · USThe University of Texas Health Science Center at San Antonio · USWashington University in St. Louis · USBanner Sun Health Research Institute · USIcahn School of Medicine at Mount Sinai · US

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
Translational pharmacoepidemiology: neuroprotection and neurotoxicity of antihypertensives and strong anticholinergicsU19AG066567 · NIA · KAISER FOUNDATION RESEARCH INSTITUTE · PI CHRISTOPHER DIRK KEENE · 2021 to 2026
$80.4M
Smartphone-Based "Burst" Cognitive AssessmentsP01AG003991 · NIA · WASHINGTON UNIVERSITY · PI JOHN MORRIS · 1985 to 2026
$69.5M
THERAPEUTIC EFFECTS OF INTRA-NASAL INSULIN DETEMIRP50AG005136 · NIA · UNIVERSITY OF WASHINGTON · PI GRABOWSKI, THOMAS J. · 1985 to 2019
$57.2M
VIRUS-INDUCED BRAIN PATHOLOGYP50AG005131 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BREWER, JAMES B · 1985 to 2018
$55.4M
WASHINGTON UNIVERSITY ALZHEIMERS DISEASE RESEARCH CENTERP50AG005681 · NIA · WASHINGTON UNIVERSITY · PI FAGAN, ANNE · 1985 to 2019
$52.1M
The natural history of AB accumulation in preclinical ADP01AG026276 · NIA · WASHINGTON UNIVERSITY · PI MORRIS, JOHN · 2005 to 2025
$49.5M
SUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI LEURGANS, SUE E. · 1991 to 2020
$49.1M
Satellite Diagnostic and Treatment Clinic CoreP50AG008702 · NIA · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI DE JAGER, PHILIP L · 1989 to 2019
$46.3M
THE ROLE OF ADVANCED CAA IN ALZHEIMER'S DEMENTIAP50AG005134 · NIA · MASSACHUSETTS GENERAL HOSPITAL · PI HYMAN, BRADLEY T. · 1985 to 2018
$42.1M
Furthering scientific understanding of mechanisms underlying resilience to the effects of AD pathology by incorporating state of the art quantification of gliosis, inflammation, & synaptic toxicityU01AG006781 · NIA · UNIVERSITY OF WASHINGTON · PI CRANE, PAUL K, LARSON, ERIC B · 1986 to 2020
$39.3M
VESICULAR LOCALIZATION AND FUNCTION OF PRESENILIN 1 FRAGMENTP50AG005138 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI GROSSMAN, HILLEL · 1985 to 2019
$37.9M
Department of HealthMedical Research Council G0400074Medical Research Council MR/L016451/1NCATS NIH HHS UL1 TR001414NCI NIH HHS R01 CA079830NIA NIH HHS F32 AG056098NIA NIH HHS K01 AG070326NIA NIH HHS K08 AG065463NIA NIH HHS K99 AG070109NIA NIH HHS P01 AG000538NIA NIH HHS P01 AG003991NIA NIH HHS P01 AG017586NIA NIH HHS P01 AG026276NIA NIH HHS P01 AG066597NIA NIH HHS P30 AG008017NIA NIH HHS P30 AG010124NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG013854NIA NIH HHS P30 AG019610NIA NIH HHS P30 AG028383NIA NIH HHS P30 AG062421NIA NIH HHS P30 AG062429NIA NIH HHS P30 AG066444NIA NIH HHS P30 AG066462NIA NIH HHS P30 AG066468NIA NIH HHS P30 AG066507NIA NIH HHS P30 AG066509NIA NIH HHS P30 AG066511NIA NIH HHS P30 AG066514NIA NIH HHS P30 AG066518NIA NIH HHS P30 AG066519NIA NIH HHS P30 AG066530NIA NIH HHS P30 AG066546NIA NIH HHS P30 AG072946NIA NIH HHS P30 AG072977NIA NIH HHS P30 AG072979NIA NIH HHS P30 AG072980NIA NIH HHS P50 AG005131NIA NIH HHS P50 AG005134NIA NIH HHS P50 AG005136NIA NIH HHS P50 AG005138NIA NIH HHS P50 AG005146NIA NIH HHS P50 AG005681NIA NIH HHS P50 AG008702NIA NIH HHS P50 AG016573NIA NIH HHS P50 AG025688NIA NIH HHS R01 AG021055NIA NIH HHS R01 AG054008NIA NIH HHS R01 AG054449NIA NIH HHS R01 AG059848NIA NIH HHS R01 AG062348NIA NIH HHS R01 AG066152NIA NIH HHS RF1 AG060961NIA NIH HHS U01 AG006781NIA NIH HHS U01 AG058635NIA NIH HHS U19 AG062418NIA NIH HHS U19 AG066567NIA NIH HHS U24 AG021886NIDA NIH HHS 75N95019C00049NIH HHS S10 OD026880NIH HHS S10 OD030463NINDS NIH HHS K23 NS109284NINDS NIH HHS P30 NS055077NINDS NIH HHS R01 NS086736NINDS NIH HHS R01 NS095252NINDS NIH HHS RF1 NS095252NINDS NIH HHS U24 NS072026NINDS NIH HHS U54 NS115266
6 · The paper itself

Abstract

Primary age-related tauopathy (PART) is a neurodegenerative pathology with features distinct from but also overlapping with Alzheimer disease (AD). While both exhibit Alzheimer-type temporal lobe neurofibrillary degeneration alongside amnestic cognitive impairment, PART develops independently of amyloid-β (Aβ) plaques. The pathogenesis of PART is not known, but evidence suggests an association with genes that promote tau pathology and others that protect from Aβ toxicity. Here, we performed a genetic association study in an autopsy cohort of individuals with PART (n = 647) using Braak neurofibrillary tangle stage as a quantitative trait. We found some significant associations with candidate loci associated with AD (SLC24A4, MS4A6A, HS3ST1) and progressive supranuclear palsy (MAPT and EIF2AK3). Genome-wide association analysis revealed a novel significant association with a single nucleotide polymorphism on chromosome 4 (rs56405341) in a locus containing three genes, including JADE1 which was significantly upregulated in tangle-bearing neurons by single-soma RNA-seq. Immunohistochemical studies using antisera targeting JADE1 protein revealed localization within tau aggregates in autopsy brains with four microtubule-binding domain repeats (4R) isoforms and mixed 3R/4R, but not with 3R exclusively. Co-immunoprecipitation in post-mortem human PART brain tissue revealed a specific binding of JADE1 protein to four repeat tau lacking N-terminal inserts (0N4R). Finally, knockdown of the Drosophila JADE1 homolog rhinoceros (rno) enhanced tau-induced toxicity and apoptosis in vivo in a humanized 0N4R mutant tau knock-in model, as quantified by rough eye phenotype and terminal deoxynucleotidyl transferase dUTP nick end-labeling (TUNEL) in the fly brain. Together, these findings indicate that PART has a genetic architecture that partially overlaps with AD and other tauopathies and suggests a novel role for JADE1 as a modifier of neurofibrillary degeneration.

Indexed as

AgedAged, 80 and overAgingAnimalsCohort StudiesDrosophilaFemaleGenome-Wide Association StudyHomeodomain ProteinsHumansMaleMiddle AgedPolymorphism, Single NucleotideTauopathiesTumor Suppressor ProteinsHomeodomain ProteinsJADE1 protein, humanTumor Suppressor Proteins

Identifiers

PMID34719765
PMCPMC8786260
OpenAlexW3209701487

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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.