Evidence map›Paper›PMID 41770933›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2026

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, Bhairavi Srinageshwar, Ryan Murtha, Marissa A Andrew and 13 more

Abstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Fidelity of DNA ligase I is sensitive to physiological MgThe Journal of biological chemistry · 2026
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

23 authors.

Eunhye Lee *Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.ORCID 0000-0001-5506-1677
Wonju Kim *Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.ORCID 0000-0002-0000-8470
David H Beier *Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, MI 48109.
Yejin LeeMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
Marina KovalenkoMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
Faaiza SaifMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
Esaria OliverMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.ORCID 0009-0006-7003-4347
Bhairavi SrinageshwarMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
Ryan MurthaMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
Marissa A AndrewMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
Andrew JiangMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
Tammy GillisMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
Brigitte DemeloMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
Jayla RulieraMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
Diane LucenteMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
Seung KwakCHDI Management Inc., Princeton, NJ 08540.
Ramee LeeCHDI Management Inc., Princeton, NJ 08540.
Ricardo Mouro PintoMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.ORCID 0000-0001-6744-2805
Marcy E MacDonaldMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
James F GusellaMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
Patrick J O'BrienDepartment of Biological Chemistry, University of Michigan Medical School, Ann Arbor, MI 48109.ORCID 0000-0001-7853-8626
Vanessa C WheelerMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.
Ihn Sik SeongMolecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114.ORCID 0000-0003-4246-3356

Funding

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
CHDI Foundation (CHDI) CHDI JSCHHS | NIH | National Institute of General Medical Sciences (NIGMS) R35GM149546HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) NS049206HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) NS091161HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) NS114065HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) NS127866NINDS NIH HHS R01 NS114065NINDS NIH HHS R01 NS126420NINDS NIH HHS R01 NS127866NSF | NSF Graduate Research Fellowship Program (GRFP) DGE-1841052
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

DNA Ligase ATPHuntington DiseaseTrinucleotide Repeat ExpansionAnimalsDNA RepairHumansHuntingtin ProteinMiceOxidative StressDNA Ligase ATPHuntingtin ProteinLIG1 protein, humanLig1 protein, mouseDNA damageDNA ligase 1Huntington’s diseaserepair fidelitysomatic repeat expansion

Identifiers

PMID41770933
PMCPMC12974472

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.