{
  "abstract": "Despite their significance, the genetic and molecular bases of neurodevelopmental disorders remain poorly understood. In this study, using human brain organoids and mouse models, we show that loss of NDE1, a gene closely associated with microcephaly, disrupts progenitor identity, prolongs mitosis, and alters regional patterning in the forebrain. NDE1 knockout leads to a caudal identity shift of neural progenitor cells in the organoids and mouse brains, coinciding with aberrant ERK signaling. Notably, downstream activation of the ERK pathway restored rostral PAX6 expression in human brain organoids. Parallel analyses of Nde1 knockout mice confirmed disrupted regional patterning of the forebrain. Together, our data establish NDE1 as a critical regulator of early human brain regionalization and elucidate molecular mechanisms underlying the structural abnormalities observed in NDE1-associated microcephaly.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel",
    "Department of Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel",
    "Department of Mechanical Engineering, University of Michigan, Ann Arbor, MI USA",
    "Division of Developmental Biology, Center for Stem Cell and Organoid Medicine, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH USA",
    "Department of Biomedical Engineering, University of Michigan, Ann Arbor, MI USA",
    "Department of Cell & Developmental Biology, University of Michigan Medical School, Ann Arbor, MI USA"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 11,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Rami Yair Tshuva"
    },
    {
      "affs": [
        2
      ],
      "name": "Jeyoon Bok"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Mio Nonaka"
    },
    {
      "affs": [
        2,
        3
      ],
      "name": "Xufeng Xue",
      "orcid": "0000-0002-9379-8589"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Bidisha Bhattacharya",
      "orcid": "0009-0001-1294-1516"
    },
    {
      "affs": [
        0
      ],
      "name": "Aditya Kshirsagar"
    },
    {
      "affs": [
        0
      ],
      "name": "Tsviya Olender",
      "orcid": "0000-0002-4194-6420"
    },
    {
      "affs": [
        0
      ],
      "name": "Miri Danan-Gotthold",
      "orcid": "0000-0002-6819-6308"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Tamar Sapir"
    },
    {
      "affs": [
        2,
        4,
        5
      ],
      "name": "Jianping Fu",
      "orcid": "0000-0001-9629-6739"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Orly Reiner",
      "orcid": "0000-0001-7560-9599"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/61ekphx6wcx88.bib",
  "cited_by": 0,
  "doi": "10.1038/s41467-026-78201-9",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13714267/",
  "id": "61ekphx6wcx88",
  "issns": [
    "2041-1723"
  ],
  "landing_url": "https://doi.org/10.1038/s41467-026-78201-9",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Article"
    ],
    [
      "openalex",
      "2806|Neurogenesis and neuroplasticity mechanisms"
    ]
  ],
  "openalex": "W7214638823",
  "pdf_url": "https://www.nature.com/articles/s41467-026-78201-9_reference.pdf",
  "pmcid": "PMC13714267",
  "pmid": "42946741",
  "published": "2026-09-28",
  "publisher": "Nature Publishing Group",
  "ris": "https://research.draconitic.com/paper/61ekphx6wcx88.ris",
  "sources": [
    {
      "first_seen": "2026-11-01T12:21:48Z",
      "native_id": "PMC13714267",
      "source": "pmc",
      "url": "https://doi.org/10.1038/s41467-026-78201-9"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2806|Neurogenesis and neuroplasticity mechanisms",
      "subfield": "neuroscience"
    }
  ],
  "title": "NDE1-Mediated Regulation of Neural Progenitor Regional Identity and Its Implication in Microcephaly",
  "title_text": "NDE1-Mediated Regulation of Neural Progenitor Regional Identity and Its Implication in Microcephaly",
  "type": "peer-reviewed",
  "updated_at": "2026-11-01T12:21:48Z",
  "url": "https://research.draconitic.com/paper/61ekphx6wcx88",
  "venue": "Nature Communications",
  "versions": []
}