{
  "abstract": "Danon disease (DD) is a rare X-linked lysosomal storage disorder that predominantly affects cardiac and skeletal muscles, characterized by glycogen and autophagic material accumulation. DD is caused by mutations in LAMP2, encoding a key mediator of lysosome-dependent autophagic degradation. A de novo nonsense mutation c.669 T > G (p. Tyr223Ter, LAMP2Y223*) was identified in a young DD patient. A knock-in mouse carrying the homologous mutation (Lamp2Y228*) successfully recapitulated the typical clinical features of DD, including a short PR interval and pre-excitation pattern. Transmission electron microscopy and immunofluorescence assays showed aberrant autophagolysosomes and glycogen accumulation in both cardiac and skeletal muscle tissues. Mechanistic studies in vivo and in vitro demonstrated the impaired chaperone-mediated autophagy (CMA) and increased glucose uptake through the CMA-dependent RAB10-GLUT4 pathway following mutant LAMP2 expression. These findings identify a RAB10-GLUT4 axis linking LAMP2 deficiency to the enhanced glucose uptake and further implicate this pathway as a contributor of glycogen accumulation in DD.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Cardiovascular Medicine, the Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, No.1, Minde Road, Nanchang, 330006, Jiangxi, People's Republic of China.",
    "Jiangxi Key Laboratory of Molecular Medicine, the Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, 330006, Jiangxi, People's Republic of China.",
    "Department of Genetics Medicine, the Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, 330006, Jiangxi, People's Republic of China.",
    "Department of Neurology, the Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, 330006, Jiangxi, People's Republic of China.",
    "Jiangxi Key Laboratory of Molecular Medicine, the Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, 330006, Jiangxi, People's Republic of China. sain.yong@gmail.com.",
    "Department of Genetics Medicine, the Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, 330006, Jiangxi, People's Republic of China. sain.yong@gmail.com.",
    "Department of Cardiovascular Medicine, the Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, No.1, Minde Road, Nanchang, 330006, Jiangxi, People's Republic of China. ljxefxn@163.com.",
    "Center for Cardiovascular Genetics, Institute of Molecular Medicine, the University of Texas Health Science Center-Houston, Houston, TX, 77030, USA.",
    "Department of Cardiovascular Medicine, the Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, No.1, Minde Road, Nanchang, 330006, Jiangxi, People's Republic of China. hongkui88@163.com.",
    "Jiangxi Key Laboratory of Molecular Medicine, the Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, 330006, Jiangxi, People's Republic of China. hongkui88@163.com.",
    "Department of Genetics Medicine, the Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, 330006, Jiangxi, People's Republic of China. hongkui88@163.com."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 16,
  "authors": [
    {
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        0,
        1
      ],
      "name": "Wei Lai"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Dandan Zhang"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Rong Wan"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Yang Liu"
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    {
      "affs": [
        1,
        2
      ],
      "name": "Yuhao Su"
    },
    {
      "affs": [
        0
      ],
      "name": "Qinmei Xiong"
    },
    {
      "affs": [
        0
      ],
      "name": "Qiongqiong Zhou"
    },
    {
      "affs": [
        0
      ],
      "name": "Jinzhu Hu"
    },
    {
      "affs": [
        3
      ],
      "name": "Xueliang Qi"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Jinyan Xie"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Xia Yan"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Qi Chen"
    },
    {
      "affs": [
        4,
        5
      ],
      "name": "Yang Shen"
    },
    {
      "affs": [
        6
      ],
      "name": "Juxiang Li"
    },
    {
      "affs": [
        7
      ],
      "name": "Ali J Marian"
    },
    {
      "affs": [
        8,
        9,
        10
      ],
      "name": "Kui Hong"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/83ygb0q7x6gw4.bib",
  "cited_by": 0,
  "doi": "10.1186/s13578-026-01625-9",
  "fulltext_url": "https://europepmc.org/articles/PMC13688758",
  "id": "83ygb0q7x6gw4",
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  "landing_url": "https://europepmc.org/article/MED/42907875",
  "language": "eng",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
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  "pdf_url": "https://europepmc.org/articles/PMC13688758?pdf=render",
  "pmcid": "PMC13688758",
  "pmid": "42907875",
  "published": "2026-07-01",
  "publisher": "BMC",
  "ris": "https://research.draconitic.com/paper/83ygb0q7x6gw4.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:57Z",
      "native_id": "MED:42907875",
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    {
      "first_seen": "2026-10-30T13:46:23Z",
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  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2713|Autophagy in Disease and Therapy",
      "subfield": "epidemiology-public-health"
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  ],
  "title": "Enhanced glucose uptake in cardiac and skeletal muscles in Danon disease results from the impaired chaperone-mediated autophagy.",
  "title_text": "Enhanced glucose uptake in cardiac and skeletal muscles in Danon disease results from the impaired chaperone-mediated autophagy.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T13:46:23Z",
  "url": "https://research.draconitic.com/paper/83ygb0q7x6gw4",
  "venue": "Cell & bioscience",
  "versions": []
}