{
  "abstract": "Mutations in the survival of motor neuron 1 (SMN1) can reduce functional SMN protein levels, which causes spinal muscular atrophy (SMA), a disease affecting the nervous system and peripheral tissues, including the immune system. Yet, SMN expression across immune cell subsets and the effect of SMN-modulating therapies on the immune system remain underexplored. We found that in neonatal mouse spleens, SMN expression was highest in B cells, and was massively reduced in SMA mice. In human PBMCs from adults, DCs and monocytes expressed the highest SMN levels, whereas patients with SMA showed reduced DC frequencies and increased B cell frequencies. Patients receiving systemic versus CNS-restricted therapy showed similar differences in immune cell composition and SMN expression levels. Similarly, an exploratory cohort including untreated patients did not show a substantial treatment-specific effect relative to controls. To assess the effect of differentiation on SMN, we analyzed PMA-treated THP-1 cells and found enhanced aberrant SMN splicing and increased SMN+ Cajal bodies. SMN levels varied across immune cell types, and reduced SMN levels were associated with altered immune cell composition. Immune alterations and decreased SMN levels were observed in both treated and untreated patients with SMA and may have contributed to dysfunctions of the immune system.",
  "abstract_shown": true,
  "affiliations": [
    "TWINCORE–Centre for Experimental and Clinical Infection Research, a joint venture between the Hannover Medical School and the Helmholtz Centre for Infection Research, Hannover, Germany.",
    "Centre for Individualised Infection Medicine (CiiM), a joint venture between the Helmholtz Centre for Infection Research and Hannover Medical School, Hannover, Germany.",
    "Department of Gastroenterology, Hepatology, Infectious Diseases and Endocrinology, and",
    "Cluster of Excellence RESIST (EXC 2155), Hannover Medical School, Hannover, Germany.",
    "Hannover Biomedical Research School (HBRS) and Center for Infection Biology (ZIB), Hannover, Germany.",
    "Biomedical Research in End-Stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany.",
    "Institute of Biosciences and BioResources, National Research Council (CNR), Naples, Italy.",
    "Department of Biology, University of Naples Federico II, Naples, Italy.",
    "Center for Systems Neuroscience (ZSN), Hannover, Germany.",
    "PRACTIS Clinician Scientist Program, Dean’s Office for Academic Career Development, and",
    "Department of Neurology and Clinical Neurophysiology, Hannover Medical School, Hannover, Germany",
    "Clinic for Pediatric Kidney, Liver, Metabolic, and Neurological Diseases, Hannover Medical School, Hannover, Germany.",
    "Department of Neurology, Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Medicine Essen, Essen, Germany.",
    "Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany.",
    "DIAKOVERE Henriettenstift, Clinic for Neurology and Clinical Neurophysiology, Hannover, Germany.",
    "Laboratory of Molecular Neurosciences, Department of Psychiatry, Social Psychiatry and Psychotherapy, Hannover Medical School, Hannover, Germany."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 18,
  "authors": [
    {
      "affs": [
        0,
        1,
        2,
        3
      ],
      "name": "Ines Tapken"
    },
    {
      "affs": [
        0,
        4
      ],
      "name": "Katharina Rahmel-Stein"
    },
    {
      "affs": [
        0,
        5
      ],
      "name": "Christine Ehlers"
    },
    {
      "affs": [
        6,
        7
      ],
      "name": "Federica Cieri"
    },
    {
      "affs": [
        8
      ],
      "name": "Nora T. Detering"
    },
    {
      "affs": [
        8
      ],
      "name": "Tobias Schüning"
    },
    {
      "affs": [
        9,
        10
      ],
      "name": "Bogdan Bjelica"
    },
    {
      "affs": [
        11
      ],
      "name": "Charlotte Mindermann"
    },
    {
      "affs": [
        12
      ],
      "name": "Svenja Neuhoff"
    },
    {
      "affs": [
        12
      ],
      "name": "Linda-Isabell Schmitt"
    },
    {
      "affs": [
        12
      ],
      "name": "Markus Leo"
    },
    {
      "affs": [
        12
      ],
      "name": "Tim Hagenacker"
    },
    {
      "affs": [
        11
      ],
      "name": "Sabine Illsinger"
    },
    {
      "affs": [
        6
      ],
      "name": "Elia Di Schiavi"
    },
    {
      "affs": [
        0,
        5,
        13
      ],
      "name": "Theresa Graalmann"
    },
    {
      "affs": [
        10,
        14
      ],
      "name": "Susanne Petri"
    },
    {
      "affs": [
        0,
        3
      ],
      "name": "Ulrich Kalinke",
      "orcid": "0000-0003-0503-9564"
    },
    {
      "affs": [
        7,
        15
      ],
      "name": "Peter Claus",
      "orcid": "0000-0003-3824-9445"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/36n9ky84vjc9z.bib",
  "cited_by": 1,
  "doi": "10.1172/jci203540",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13722399/",
  "id": "36n9ky84vjc9z",
  "issns": [
    "0021-9738",
    "1558-8238"
  ],
  "landing_url": "https://doi.org/10.1172/jci203540",
  "language": "en",
  "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": [
    [
      "heading",
      "Research Article"
    ],
    [
      "openalex",
      "2716|Neurogenetic and Muscular Disorders Research"
    ]
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  "openalex": "W7204182263",
  "pdf_url": "http://www.jci.org/articles/view/203540/files/pdf",
  "pmcid": "PMC13722399",
  "pmid": "42640738",
  "published": "2026-08-25",
  "publisher": "American Society for Clinical Investigation",
  "ris": "https://research.draconitic.com/paper/36n9ky84vjc9z.ris",
  "sources": [
    {
      "first_seen": "2026-11-03T12:22:54Z",
      "native_id": "PMC13722399",
      "source": "pmc",
      "url": "https://doi.org/10.1172/jci203540"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2716|Neurogenetic and Muscular Disorders Research",
      "subfield": "human-genetics"
    }
  ],
  "title": "Immune cell–specific SMN expression and sustained immune alterations in treated spinal muscular atrophy",
  "title_text": "Immune cell–specific SMN expression and sustained immune alterations in treated spinal muscular atrophy",
  "type": "peer-reviewed",
  "updated_at": "2026-11-03T12:22:54Z",
  "url": "https://research.draconitic.com/paper/36n9ky84vjc9z",
  "venue": "The Journal of Clinical Investigation",
  "versions": []
}