{
  "abstract": "Angelman syndrome (AS) is a neurogenetic disorder caused by the loss of function in the maternally inherited UBE3A gene, leading to a spectrum of symptoms that include developmental delays, intellectual disability, and motor impairments. While genetic and molecular mechanisms of AS are increasingly well characterized, a critical gap remains in understanding how disruptions in neuronal connectivity at the circuit level contribute to its pathophysiology. Here, we aimed to address this gap by investigating cortical connectivity alterations in a mouse model of AS. Using wide-field calcium imaging, we monitored real-time neuronal activity across the entire dorsal cortex in awake animals. Our results revealed widespread cortical hyperconnectivity in AS mice compared to wild-type controls, particularly in regions involved in motor and sensory processing. Notably, this pattern of aberrant connectivity persisted across two distinct time points in adulthood, suggesting a stable and enduring network dysfunction. These findings indicate that the absence of UBE3A function drives persistent disruptions of functional connectivity, which may underlie key clinical manifestations of AS.",
  "abstract_shown": true,
  "affiliations": [
    "Neuroscience Institute, CNR, via Giuseppe Moruzzi 1, Pisa, Italy",
    "International School of Advanced Studies, via Gentile III Da Varano, Camerino (MC), Italy",
    "European Laboratory for Non-Linear Spectroscopy, University of Florence, via Nello Carrara 1, Sesto Fiorentino (FI), Italy",
    "Nanoscience Institute, CNR, NEST-SNS, Piazza San Silvestro 12, Pisa, Italy",
    "IRCCS Stella Maris Foundation, viale del Tirreno 341, Calambrone (PI), Italy"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 8,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Manuel Scorrano",
      "orcid": "0009-0000-9573-2332"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Elena Montagni",
      "orcid": "0000-0003-1106-7115"
    },
    {
      "affs": [
        0
      ],
      "name": "Abenezer Tarekegne Legesse",
      "orcid": "0009-0005-8575-9028"
    },
    {
      "affs": [
        0
      ],
      "name": "Ludovica Iovino"
    },
    {
      "affs": [
        3
      ],
      "name": "Chiara De Cesari",
      "orcid": "0009-0004-2305-966X"
    },
    {
      "affs": [
        3
      ],
      "name": "Ilaria Tonazzini"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Anna Letizia Allegra Mascaro"
    },
    {
      "affs": [
        0,
        4
      ],
      "name": "Laura Baroncelli",
      "orcid": "0000-0001-6739-2860"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/dr7ayky2ajzf7.bib",
  "cited_by": 0,
  "doi": "10.1038/s41398-026-04254-5",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13710969/",
  "id": "dr7ayky2ajzf7",
  "issns": [
    "2158-3188"
  ],
  "landing_url": "https://doi.org/10.1038/s41398-026-04254-5",
  "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",
      "1311|Genetic Syndromes and Imprinting"
    ]
  ],
  "openalex": "W7204621776",
  "pdf_url": "https://www.nature.com/articles/s41398-026-04254-5_reference.pdf",
  "pmcid": "PMC13710969",
  "pmid": "42934221",
  "published": "2026-08-29",
  "publisher": "Nature Publishing Group",
  "ris": "https://research.draconitic.com/paper/dr7ayky2ajzf7.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T12:21:49Z",
      "native_id": "PMC13710969",
      "source": "pmc",
      "url": "https://doi.org/10.1038/s41398-026-04254-5"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genetic Syndromes and Imprinting",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Cortical dynamics in Angelman syndrome: novel insights from a preclinical mouse model",
  "title_text": "Cortical dynamics in Angelman syndrome: novel insights from a preclinical mouse model",
  "type": "peer-reviewed",
  "updated_at": "2026-10-31T12:21:49Z",
  "url": "https://research.draconitic.com/paper/dr7ayky2ajzf7",
  "venue": "Translational Psychiatry",
  "versions": []
}