Evidence map›Paper›PMID 30050033›Full record

ArticleNature communications2018

Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1.

Axel Weber, Sigrid C Schwarz, Jörg Tost, Dietrich Trümbach, Pia Winter, Florence Busato, Pawel Tacik, Anita C Windhorst, Maud Fagny, Thomas Arzberger and 9 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 2 pooled it
2.2field-weighted citation impact, top 13% 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

22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Progressive Supranuclear Palsy PERK Haplotype B Selectively Translates DLX1 Promoting Tau Toxicity.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026
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  7. DNA methylation as a contributor to dysregulation ofbioRxiv : the preprint server for biology · 2025
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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

19 authors at 7 institutions in 4 countries.

Axel WeberInstitute of Human Genetics, Justus-Liebig-Universität, Gießen, 35392, Germany. axel.weber@humangenetik.med.uni-giessen.de.ORCID http://orcid.org/0000-0002-3884-2970
Sigrid C SchwarzDepartment of Neurology, Technische Universität München, Munich, 81377, Germany.
Jörg TostLaboratory for Epigenetics and Environment, Centre National de Recherche en Génomique Humaine, CEA-Institut de Biologie Francois Jacob, Evry, 91000, France.ORCID http://orcid.org/0000-0002-2683-0817
Dietrich TrümbachInstitute of Developmental Genetics, Helmholtz Center München, Munich, 85764, Germany.
Pia WinterInstitute of Human Genetics, Justus-Liebig-Universität, Gießen, 35392, Germany.
Florence BusatoLaboratory for Epigenetics and Environment, Centre National de Recherche en Génomique Humaine, CEA-Institut de Biologie Francois Jacob, Evry, 91000, France.
Pawel TacikDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, 32224, USA.
Anita C WindhorstInstitute of Medical Informatics, Justus-Liebig-Universität, Gießen, 35392, Germany.
Maud FagnyLaboratory for Epigenetics and Environment, Centre National de Recherche en Génomique Humaine, CEA-Institut de Biologie Francois Jacob, Evry, 91000, France.
Thomas ArzbergerGerman Center for Neurodegenerative Diseases (DZNE), Munich, 81377, Germany.
Catriona McLeanAlfred Anatomical Pathology and NNF, Victorian Brain Bank, Carlton, VIC, 3053, Australia.
John C van SwietenDepartment of Neurology, Erasmus Medical Centre, Rotterdam, 3000, The Netherlands.
Johannes SchwarzDepartment of Neurology, Technische Universität München, Munich, 81377, Germany.
Daniela Vogt WeisenhornGerman Center for Neurodegenerative Diseases (DZNE), Munich, 81377, Germany.
Wolfgang WurstGerman Center for Neurodegenerative Diseases (DZNE), Munich, 81377, Germany.
Till AdhikaryInstitute for Molecular Biology and Tumor Research, Center for Tumor Biology and Immunology, Philipps University, Marburg, 35043, Germany.
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, 32224, USA.ORCID http://orcid.org/0000-0001-7189-7917
Günter U HöglingerDepartment of Neurology, Technische Universität München, Munich, 81377, Germany. Guenter.Hoeglinger@dzne.de.ORCID http://orcid.org/0000-0001-7587-6187
Ulrich MüllerInstitute of Human Genetics, Justus-Liebig-Universität, Gießen, 35392, Germany. Ulrich.mueller@med.uni-giessen.de.ORCID http://orcid.org/0000-0003-2412-9071
German Center for Neurodegenerative Diseases · DEJustus-Liebig-Universität Gießen · DECommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRErasmus University Rotterdam · NLHelmholtz Zentrum München · DEMayo Clinic in Florida · USTechnical University of Munich · DE

Funding

Project 2: Identifying genes and Pathways that impact Tau Toxicity in FTDU54NS100693 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2016 to 2020
$6.2M
NINDS NIH HHS U54 NS100693
6 · The paper itself

Abstract

Genetic, epigenetic, and environmental factors contribute to the multifactorial disorder progressive supranuclear palsy (PSP). Here, we study epigenetic changes by genome-wide analysis of DNA from postmortem tissue of forebrains of patients and controls and detect significant (P < 0.05) methylation differences at 717 CpG sites in PSP vs. controls. Four-hundred fifty-one of these sites are associated with protein-coding genes. While differential methylation only affects a few sites in most genes, DLX1 is hypermethylated at multiple sites. Expression of an antisense transcript of DLX1, DLX1AS, is reduced in PSP brains. The amount of DLX1 protein is increased in gray matter of PSP forebrains. Pathway analysis suggests that DLX1 influences MAPT-encoded Tau protein. In a cell system, overexpression of DLX1 results in downregulation of MAPT while overexpression of DLX1AS causes upregulation of MAPT. Our observations suggest that altered DLX1 methylation and expression contribute to pathogenesis of PSP by influencing MAPT.

Indexed as

AgedAged, 80 and overDNA MethylationEpigenesis, GeneticFemaleHomeodomain ProteinsHumansMaleSupranuclear Palsy, Progressivetau ProteinsTranscription FactorsDistal-less homeobox proteinsHomeodomain ProteinsMAPT protein, humantau ProteinsTranscription Factors

Identifiers

PMID30050033
PMCPMC6062504
OpenAlexW2884892964

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.