{
  "abstract": "The spliceosome is the core molecular machinery for RNA splicing, and its dysfunction can disrupt gene expression programs during neurodevelopment. With the widespread application of whole-genome sequencing, transcriptome sequencing, and long-read sequencing, the spectrum of spliceosome-related neurodevelopmental disorders has been continuously expanding. This review summarizes the genetic features, clinical phenotypes, and molecular mechanisms of pathogenic variants at three levels of the spliceosome: small nuclear RNAs, small nuclear ribonucleoproteins, and spliceosome assembly/regulatory factors. It further discusses tissue selectivity and phenotypic heterogeneity of spliceosome-related disorders, and highlights emerging research strategies and advances in RNA-targeted therapies, with the aim of informing mechanistic exploration and clinical research.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Endocrinology, Genetics and Metabolism, Fuzhou First General Hospital Affiliated to Fujian Medical University (Fuzhou Children's Hospital of Fujian), Fuzhou 350005, China"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 3,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "HUANG Xiao-Zhen"
    },
    {
      "affs": [
        0
      ],
      "name": "CHEN Hong"
    },
    {
      "affs": [
        0
      ],
      "name": "CHEN Rui-Min"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/6swgrx9tjwpq1.bib",
  "cited_by": 0,
  "doi": "10.7499/j.issn.1008-8830.2606178",
  "fulltext_url": "https://www.zgddek.com/fileup/1008-8830/HTML_EN/2026-10-1298.html",
  "id": "6swgrx9tjwpq1",
  "issns": [
    "1008-8830",
    "2096-9228"
  ],
  "landing_url": "https://doi.org/10.7499/j.issn.1008-8830.2606178",
  "language": "zh",
  "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": [
    [
      "lcc",
      "RJ1-570"
    ],
    [
      "openalex",
      "1312|RNA Research and Splicing"
    ]
  ],
  "openalex": "W7223238935",
  "pdf_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13684104/pdf/ZGDDEKZZ-28-10-1298.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-23",
  "publisher": "Hunan Xiangya Medical Periodical Press Co., Ltd.",
  "ris": "https://research.draconitic.com/paper/6swgrx9tjwpq1.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T13:43:33Z",
      "native_id": "65329c79dff144f99bea2e78b5f3ab1f",
      "source": "doaj",
      "url": "https://doi.org/10.7499/j.issn.1008-8830.2606178"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|RNA Research and Splicing",
      "subfield": "molecular-biology"
    }
  ],
  "title": "Spliceosome defects and neurodevelopmental disorders",
  "title_text": "Spliceosome defects and neurodevelopmental disorders",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T13:43:33Z",
  "url": "https://research.draconitic.com/paper/6swgrx9tjwpq1",
  "venue": "中国当代儿科杂志",
  "versions": []
}