Evidence map›Paper›PMID 40791503›Full record

ArticlebioRxiv : the preprint server for biology2025

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion.

Eunhye Lee, Wonju Kim, David H Beier, Yejin Lee, Marina Kovalenko, Faaiza Saif, Esaria Oliver, Ryan Murtha, Marissa A Andrew, Tammy Gillis and 12 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

22 authors.

Eunhye LeeMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Wonju KimMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
David H BeierDepartment of Biological Chemistry, University of Michigan Medical School, Ann Arbor, MI, USA.
Yejin LeeMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Marina KovalenkoMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Faaiza SaifMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Esaria OliverMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Ryan MurthaMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Marissa A AndrewMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Tammy GillisMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Brigitte DemeloMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Bhairavi SrinageshwarMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Jayla RulieraMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Diane LucenteMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Seung KwakCHDI Management Inc., Princeton, NJ, USA.
Ramee LeeCHDI Management Inc., Princeton, NJ, USA.
Ricardo Mouro PintoMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0001-6744-2805
Marcy E MacDonaldMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
James F GusellaMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Patrick J O'BrienDepartment of Biological Chemistry, University of Michigan Medical School, Ann Arbor, MI, USA.
Vanessa C WheelerMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID 0009-0004-8259-5796
Ihn Sik SeongMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

Funding

Huntington's Disease Repeat Instability and PathogenesisR01NS049206 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI VANESSA C WHEELER · 2005 to 2026
$10.0M
Disease-Modifying Genes in Huntington's DiseaseR01NS091161 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI JAMES F GUSELLA · 2015 to 2026
$7.2M
Dissecting the role of DNA Ligase 1 in Huntington's diseaseR01NS127866 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI Ihn Sik Seong, VANESSA C WHEELER · 2023 to 2026
$2.6M
Somatic Repeat Expansions as a Therapeutic Target for Trinucleotide Repeat DisordersR01NS126420 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI Ricardo Mouro Pinto · 2022 to 2026
$2.0M
An Alternative Isoform of RRM2B as a Genetic Modifier in Huntington's DiseaseR01NS114065 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI SEONG, IHN SIK · 2020 to 2024
$2.0M
Mechanisms of Base Excision DNA RepairR35GM149546 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Patrick J O'Brien · 2023 to 2026
$1.8M
NIGMS NIH HHS R35 GM149546NINDS NIH HHS R01 NS049206NINDS NIH HHS R01 NS091161NINDS NIH HHS R01 NS114065NINDS NIH HHS R01 NS126420NINDS NIH HHS R01 NS127866
6 · The paper itself

Abstract

Huntington's disease (HD) is a fatal neurodegenerative disorder caused by inheriting an expanded CAG repeat tract in the huntingtin gene (

Indexed as

Biological SciencesDNA damageDNA ligase 1GeneticsHuntington’s diseaserepair fidelitysomatic repeat expansion

Identifiers

PMID40791503
PMCPMC12338604

What OpenQuestion holds

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Registered trials

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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.