Evidence map›Paper›PMID 34910524›Full record

ArticleScience advances2021

Chromatin architecture at susceptible gene loci in cerebellar Purkinje cells characterizes DNA damage-induced neurodegeneration.

Young Don Kwak, Timothy I Shaw, Susanna M Downing, Ambika Tewari, Hongjian Jin, Yang Li, Lavinia C Dumitrache, Sachin Katyal, Kamran Khodakhah, Helen R Russell and 1 more

Abstract read
In one paragraph

Article in Science advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing 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

17 citing papers in PubMed.

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  11. Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.Movement disorders : official journal of the Movement Disorder Society · 2024
    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

11 authors.

Young Don KwakDepartments of Genetics and Cell Molecular Biology, Center for Pediatric Neurological Disease Research, St. Jude Pediatric Translational Neuroscience Initiative, Memphis, TN 38105, USA.ORCID 0000-0003-3378-3649
Timothy I ShawMoffitt Cancer Center, Tampa, FL 33612, USA.ORCID 0000-0002-9316-1924
Susanna M DowningDepartments of Genetics and Cell Molecular Biology, Center for Pediatric Neurological Disease Research, St. Jude Pediatric Translational Neuroscience Initiative, Memphis, TN 38105, USA.
Ambika TewariDominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA.ORCID 0000-0002-8740-5080
Hongjian JinCenter for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.ORCID 0000-0003-3833-7170
Yang LiDepartments of Genetics and Cell Molecular Biology, Center for Pediatric Neurological Disease Research, St. Jude Pediatric Translational Neuroscience Initiative, Memphis, TN 38105, USA.
Lavinia C DumitracheDepartments of Genetics and Cell Molecular Biology, Center for Pediatric Neurological Disease Research, St. Jude Pediatric Translational Neuroscience Initiative, Memphis, TN 38105, USA.
Sachin KatyalCancerCare Manitoba Research Institute, CancerCare Manitoba and Department of Pharmacology and Therapeutics, University of Manitoba, Winnipeg, MB R3E OV9, Canada.
Kamran KhodakhahDominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA.ORCID 0000-0001-7905-5335
Helen R RussellDepartments of Genetics and Cell Molecular Biology, Center for Pediatric Neurological Disease Research, St. Jude Pediatric Translational Neuroscience Initiative, Memphis, TN 38105, USA.
Peter J McKinnonDepartments of Genetics and Cell Molecular Biology, Center for Pediatric Neurological Disease Research, St. Jude Pediatric Translational Neuroscience Initiative, Memphis, TN 38105, USA.ORCID 0000-0002-0485-3778

Funding

Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI CHARLES ROBERTS · 1985 to 2026
$166.9M
ATM and DNA Damage in the Nervous SystemR01NS037956 · NINDS · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI MCKINNON, PETER J · 1998 to 2022
$7.6M
Cerebellar Function in Health and DiseaseR01NS050808 · NINDS · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI KHODAKHAH, KAMRAN · 2006 to 2016
$3.9M
ATM and DNA Damage in the Nervous SystemR56NS037956 · NINDS · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI MCKINNON, PETER J · 2007 to 2007
$413k
NCI NIH HHS P30 CA021765NINDS NIH HHS R01 NS037956NINDS NIH HHS R01 NS050808NINDS NIH HHS R56 NS037956
6 · The paper itself

Abstract

The pathogenesis of inherited genome instability neurodegenerative syndromes remains largely unknown. Here, we report new disease-relevant murine models of genome instability–driven neurodegeneration involving disabled ATM and APTX that develop debilitating ataxia. We show that neurodegeneration and ataxia result from transcriptional interference in the cerebellum via aberrant messenger RNA splicing. Unexpectedly, these splicing defects were restricted to only Purkinje cells, disrupting the expression of critical homeostatic regulators including

Identifiers

PMID34910524
PMCPMC11323782

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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.