{
  "abstract": "SIDT2 is a lysosomal membrane protein that—together with LAMP2—has been implicated in a recently described process known as RNAutophagy. Mutations in LAMP2 have long been known to cause Danon disease, a rare lysosomal storage disorder that affects multiple organ systems including brain and skeletal muscle. Recently, we have shown that loss of SIDT2 function in both humans and mice causes brain dysfunction, and it has been previously observed that loss of SIDT2 in mice also leads to muscle damage and reduced muscle strength. Here, we show that changes in the skeletal muscle of Sidt2−/− mice are reminiscent of those seen in Danon disease as evidenced by accumulation of autophagic vacuoles with sarcolemmal features, selective atrophy of fast twitch fibers, and a shared alteration in gene expression. Moreover, we find that loss of SIDT2 not only leads to impaired autophagy in skeletal muscle as previously described but also stimulates a type I interferon response and increased apoptosis.",
  "abstract_shown": true,
  "affiliations": [
    "The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3050, Australia",
    "Department of Medical Biology, University of Melbourne, Parkville, VIC 3050, Australia",
    "Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia",
    "Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia",
    "Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia",
    "Department of Pathology, Boston Children’s Hospital, Boston, MA 02115, USA",
    "Department of Medicine, Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA",
    "Department of Surgery, Division of Cardiovascular Surgery, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA",
    "Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA",
    "Royal Children’s Hospital, Parkville, VIC 3052, Australia"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 16,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Marilou H. Barrios",
      "orcid": "0000-0002-1367-7163"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Tan A. Nguyen",
      "orcid": "0000-0003-2696-9170"
    },
    {
      "affs": [
        2,
        3
      ],
      "name": "Peter J. Houweling",
      "orcid": "0000-0001-6132-2554"
    },
    {
      "affs": [
        0
      ],
      "name": "Daniel Frank"
    },
    {
      "affs": [
        4
      ],
      "name": "Fleur C. Garton"
    },
    {
      "affs": [
        5
      ],
      "name": "Hart G. Lidov"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Ellen Tsui",
      "orcid": "0009-0005-7340-7412"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Alexandra L. Garnham"
    },
    {
      "affs": [
        6
      ],
      "name": "Amrut V. Ambardekar",
      "orcid": "0000-0003-3503-4203"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Gordon K. Smyth",
      "orcid": "0000-0001-9221-2892"
    },
    {
      "affs": [
        6
      ],
      "name": "Luisa Mestroni",
      "orcid": "0000-0003-1116-2286"
    },
    {
      "affs": [
        7
      ],
      "name": "Joseph C. Cleveland"
    },
    {
      "affs": [
        6
      ],
      "name": "Matthew R. G. Taylor",
      "orcid": "0000-0001-9043-0810"
    },
    {
      "affs": [
        2,
        3
      ],
      "name": "Kathryn N. North",
      "orcid": "0000-0003-0841-8009"
    },
    {
      "affs": [
        8
      ],
      "name": "Craig P. Hunter",
      "orcid": "0000-0002-1456-5657"
    },
    {
      "affs": [
        2,
        3,
        9
      ],
      "name": "Ken C. Pang",
      "orcid": "0000-0002-6881-775X"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/9na3a9khztfka.bib",
  "cited_by": 0,
  "doi": "10.3390/ijms27209158",
  "fulltext_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13705246/?tool=EBI",
  "id": "9na3a9khztfka",
  "issns": [
    "1422-0067"
  ],
  "landing_url": "https://www.mdpi.com/1422-0067/27/20/9158",
  "language": "eng",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2713|Autophagy in Disease and Therapy"
    ]
  ],
  "openalex": "W7222280240",
  "pdf_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13705246/pdf/?tool=EBI",
  "pmcid": "PMC13705246",
  "pmid": null,
  "published": "2026-10-01",
  "publisher": "MDPI AG",
  "ris": "https://research.draconitic.com/paper/9na3a9khztfka.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:18:57Z",
      "native_id": "10.3390/ijms27209158",
      "source": "crossref",
      "url": "https://www.mdpi.com/1422-0067/27/20/9158"
    },
    {
      "first_seen": "2026-10-30T12:21:49Z",
      "native_id": "PMC:PMC13705246",
      "source": "europepmc",
      "url": "https://europepmc.org/article/PMC/PMC13705246"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2713|Autophagy in Disease and Therapy",
      "subfield": "epidemiology-public-health"
    }
  ],
  "title": "Loss of Sidt2 in Mice Resembles Danon Disease and Results in Induction of a Type I Interferon Response with Increased Apoptosis",
  "title_text": "Loss of Sidt2 in Mice Resembles Danon Disease and Results in Induction of a Type I Interferon Response with Increased Apoptosis",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:21:49Z",
  "url": "https://research.draconitic.com/paper/9na3a9khztfka",
  "venue": "International Journal of Molecular Sciences",
  "versions": []
}