{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T00:25:44Z","timestamp":1759883144679,"version":"build-2065373602"},"reference-count":48,"publisher":"Cambridge University Press (CUP)","license":[{"start":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T00:00:00Z","timestamp":1744588800000},"content-version":"unspecified","delay-in-days":103,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Acta Neuropsychiatr."],"published-print":{"date-parts":[[2025]]},"abstract":"<jats:title>Abstract<\/jats:title>\n\t  <jats:sec id=\"S0924270825000171_as1\">\n\t    <jats:title>Objective:<\/jats:title>\n\t    <jats:p>Kabuki syndrome is a rare multisystem congenital disorder characterised by specific facial malformations and several other symptoms, including motor impairments, increased susceptibility to infections, immune mediators\u2019 deficits, anxiety, and stereotyped behaviours. Considering the reports of motor impairments in Kabuki syndrome patients, the first hypothesis of the present study was that this motor dysfunction was a consequence of striatal dopaminergic modulation. The second hypothesis was that the peripheral immune system dysfunctions were a consequence of neuroinflammatory processes. To study these hypotheses, the mutant <jats:italic>bapa<\/jats:italic> mouse was used as it is a validated experimental model of Kabuki syndrome.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0924270825000171_as2\">\n\t    <jats:title>Methods:<\/jats:title>\n\t    <jats:p>Exploratory behaviour, anxiety-like behaviour (light-dark test), repetitive\/stereotyped behaviour (spontaneous and induced self-grooming), and tyrosine hydroxylase (TH), astrocyte glial fibrillary acidic protein (GFAP), and ionised calcium-binding adaptor molecule 1 (Iba1) striatal expressions were evaluated in female adult <jats:italic>bapa<\/jats:italic> and control mice.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0924270825000171_as3\">\n\t    <jats:title>Results:<\/jats:title>\n\t    <jats:p>Female <jats:italic>bapa<\/jats:italic> mice did not present anxiety-like behaviour, but exploratory hyperactivity and stereotyped behaviour both on the spontaneous and induced self-grooming tests. Striatal TH, GFAP, and Iba1 expressions were also increased in <jats:italic>bapa<\/jats:italic> mice.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0924270825000171_as4\">\n\t    <jats:title>Conclusion:<\/jats:title>\n\t    <jats:p>The exploratory hyperactivity and the stereotyped behaviour occurred in detriment of the striatal dopaminergic system hyperactivity and a permanent neuroinflammatory process.<\/jats:p>\n\t  <\/jats:sec>","DOI":"10.1017\/neu.2025.17","type":"journal-article","created":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T06:14:56Z","timestamp":1744611296000},"update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":0,"title":["Behavioural impairments in a mouse model of Kabuki syndrome associated with dopaminergic and neuroinflammatory modulations"],"prefix":"10.1017","volume":"37","author":[{"given":"Thalles F.","family":"Biondi","sequence":"first","affiliation":[{"name":"Paulista 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