{
  "abstract": "Interferon-stimulated genes (ISGs) comprise a program of immune effectors important for host immune defense. When uncontrolled, ISGs play a central role in interferonopathies and other inflammatory diseases. The mechanisms responsible for turning on ISGs are not completely known. By investigating MATRIN3 (MATR3), a nuclear RNA-binding protein mutated in familial ALS, we found that perturbing MATR3 results in elevated expression of ISGs. Using an integrative approach, we elucidate a pathway that leads to activation of cGAS-STING. This outlines a plausible mechanism for pathogenesis in a subset of ALS, and suggests new diagnostic and therapeutic approaches for this fatal disease. One-Sentence Summary Mis-splicing of Tudor Domain Containing 3 ( TDRD3 ) in the absence of MATR3 unleashes R-loops and interferon-stimulated genes.",
  "abstract_shown": true,
  "affiliations": [
    "Integrative Immunobiology Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, NIH",
    "RNA Molecular Biology Group, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH",
    "Genetic Immunotherapy Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH",
    "Integrated Data Sciences Section, Research Technologies Branch, National Institute of Allergy and Infectious Diseases, NIH",
    "Research Technologies Branch, National Institute of Allergy and Infectious Diseases, NIH"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 16,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Zohirul Islam",
      "orcid": "0009-0004-8746-0452"
    },
    {
      "affs": [
        1
      ],
      "name": "Ahsan Habib Polash",
      "orcid": "0000-0002-6591-3164"
    },
    {
      "affs": [
        2
      ],
      "name": "Colin L. Sweeney",
      "orcid": "0000-0002-9442-1134"
    },
    {
      "affs": [
        1
      ],
      "name": "Masataka Suzawa"
    },
    {
      "affs": [
        0
      ],
      "name": "Bryan Chim",
      "orcid": "0000-0002-5624-5248"
    },
    {
      "affs": [
        0
      ],
      "name": "Sabrina Sultana"
    },
    {
      "affs": [
        3
      ],
      "name": "Skyler A. Kuhn",
      "orcid": "0000-0003-0606-2125"
    },
    {
      "affs": [
        0
      ],
      "name": "Nicholas Cutrona"
    },
    {
      "affs": [
        0
      ],
      "name": "刘秀怀",
      "orcid": "0009-0005-9798-2585"
    },
    {
      "affs": [
        0
      ],
      "name": "Patrick T Smith",
      "orcid": "0000-0003-2017-5468"
    },
    {
      "affs": [
        4
      ],
      "name": "Tibor Z. Veres",
      "orcid": "0000-0002-6980-8900"
    },
    {
      "affs": [
        4
      ],
      "name": "Juraj Kabát",
      "orcid": "0000-0001-8636-542X"
    },
    {
      "affs": [
        4
      ],
      "name": "Sundar Ganesan",
      "orcid": "0000-0003-1132-2016"
    },
    {
      "affs": [
        0
      ],
      "name": "Amir B. K. Foroushani",
      "orcid": "0000-0003-2748-3009"
    },
    {
      "affs": [
        1
      ],
      "name": "Markus Hafner",
      "orcid": "0000-0002-4336-6518"
    },
    {
      "affs": [
        0
      ],
      "name": "Stefan Adi Muljo",
      "orcid": "0000-0003-1013-446X"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/4jpwsbc3sp9e5.bib",
  "cited_by": 7,
  "doi": "10.1073/pnas.2608835123",
  "fulltext_url": null,
  "id": "4jpwsbc3sp9e5",
  "issns": [
    "0027-8424",
    "1091-6490"
  ],
  "landing_url": "https://doi.org/10.1073/pnas.2608835123",
  "language": "en",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2403|interferon and immune responses"
    ]
  ],
  "openalex": "W7220841606",
  "pdf_url": null,
  "pmcid": "PMC11071297",
  "pmid": "38712171",
  "published": "2026-10-07",
  "publisher": "National Academy of Sciences",
  "ris": "https://research.draconitic.com/paper/4jpwsbc3sp9e5.ris",
  "sources": [
    {
      "first_seen": "2026-11-04T13:21:10Z",
      "native_id": "W7220841606",
      "source": "openalex",
      "url": "https://doi.org/10.1073/pnas.2608835123"
    }
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  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2403|interferon and immune responses",
      "subfield": "immunology"
    }
  ],
  "title": "MATRIN3 deficiency in human cells triggers an autoinflammatory response via cGAS–STING activation",
  "title_text": "MATRIN3 deficiency in human cells triggers an autoinflammatory response via cGAS–STING activation",
  "type": "peer-reviewed",
  "updated_at": "2026-11-04T13:21:10Z",
  "url": "https://research.draconitic.com/paper/4jpwsbc3sp9e5",
  "venue": "Proceedings of the National Academy of Sciences",
  "versions": []
}