{
  "abstract": "KCNQ1 encodes a voltage-gated potassium channel implicated in peripheral and neurological disorders, but its role in human neurodevelopment remains unclear. We generated KCNQ1 knockout (KO) human induced pluripotent stem cells and differentiated them into neural stem cells (NSCs) and cortical neurons. KCNQ1 -deficient NSCs show impaired neurite outgrowth, linked to reduced cell adhesion and disrupted neural cell adhesion molecule signalling, a phenotype reproduced by pharmacological KCNQ1 inhibition. Multi-omics and follow-up analyses reveal mitochondrial dysfunction, including reduced mitochondrial copy number and ATP synthase expression. KO cells also show impaired insulin signalling, with diminished insulin receptor gene expression and altered RAS-MAPK and PI3K-AKT pathways. In differentiated neuronal cultures, KCNQ1 loss decreases synaptic activity and maintains an immature transcriptional profile. Together, these findings identify a role for KCNQ1 in regulating cell adhesion, mitochondrial function, insulin signalling, and neuronal maturation, expanding our understanding of processes that may contribute to neurological manifestations associated with KCNQ1 -related disorders.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 23,
  "authors": [
    {
      "name": "Dorothea Schall"
    },
    {
      "name": "Baran E. Güler"
    },
    {
      "name": "Siamand Alibrahim"
    },
    {
      "name": "Mahmudul Hasan",
      "orcid": "0009-0001-8577-6128"
    },
    {
      "name": "Naeem Ahmad",
      "orcid": "0000-0002-6523-492X"
    },
    {
      "name": "Joanna Widomska"
    },
    {
      "name": "Claudio Acuna",
      "orcid": "0000-0002-8849-6260"
    },
    {
      "name": "Mairéad Sullivan"
    },
    {
      "name": "Ralph Röth"
    },
    {
      "name": "Chang Liu"
    },
    {
      "name": "Linda Blaier"
    },
    {
      "name": "Katalin Vincze",
      "orcid": "0000-0002-4668-1134"
    },
    {
      "name": "Karin Burau",
      "orcid": "0009-0008-6814-2298"
    },
    {
      "name": "Simone Macri"
    },
    {
      "name": "Daniela Mauceri",
      "orcid": "0000-0003-1225-4633"
    },
    {
      "name": "Marcin Luzarowski"
    },
    {
      "name": "Ágota Apáti",
      "orcid": "0000-0003-0380-8139"
    },
    {
      "name": "János M. Réthelyi",
      "orcid": "0000-0002-3641-012X"
    },
    {
      "name": "Geert Poelmans"
    },
    {
      "name": "Gudrun A. Rappold",
      "orcid": "0000-0002-3126-1508"
    },
    {
      "name": "Barbara Franke",
      "orcid": "0000-0003-4375-6572"
    },
    {
      "name": "Jeffrey C. Glennon"
    },
    {
      "name": "Simone Berkel",
      "orcid": "0000-0002-5134-2217"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/594g10dwe7ay3.bib",
  "cited_by": 0,
  "doi": "10.1038/s42003-026-11111-0",
  "fulltext_url": null,
  "id": "594g10dwe7ay3",
  "issns": [
    "2399-3642"
  ],
  "landing_url": "https://www.nature.com/articles/s42003-026-11111-0",
  "language": null,
  "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",
      "1312|Ion channel regulation and function"
    ]
  ],
  "openalex": "W7221639067",
  "pdf_url": "https://www.nature.com/articles/s42003-026-11111-0.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-13",
  "publisher": "Springer Science and Business Media LLC",
  "ris": "https://research.draconitic.com/paper/594g10dwe7ay3.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:50Z",
      "native_id": "10.1038/s42003-026-11111-0",
      "source": "crossref",
      "url": "https://www.nature.com/articles/s42003-026-11111-0"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Ion channel regulation and function",
      "subfield": "molecular-biology"
    }
  ],
  "title": "KCNQ1 disruption alters human neuronal development through mitochondrial and insulin signalling pathways",
  "title_text": "KCNQ1 disruption alters human neuronal development through mitochondrial and insulin signalling pathways",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:50Z",
  "url": "https://research.draconitic.com/paper/594g10dwe7ay3",
  "venue": "Communications Biology",
  "versions": []
}