{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T19:20:27Z","timestamp":1786216827999,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,3,25]],"date-time":"2020-03-25T00:00:00Z","timestamp":1585094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Thrasher Foundation"},{"name":"Spastic Paraplegia Foundation (SPF) Inc."},{"name":"CureSPG47 Inc"},{"name":"Lovejoy Award"},{"name":"University of Siena \u201cPegaso Scholarship\u201d"},{"name":"the Italian Ministry of Health","award":["#RC2017-2018-2019"],"award-info":[{"award-number":["#RC2017-2018-2019"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in <jats:italic>AP4S1<\/jats:italic> which encodes a subunit of the adaptor protein complex 4 (AP\u20104). Using next\u2010generation sequencing, we identified three novel unrelated SPG52 patients from a cohort of patients with cerebral palsy. The discovered variants in <jats:italic>AP4S1<\/jats:italic> lead to reduced AP\u20104 complex formation in patient\u2010derived fibroblasts. To further understand the role of <jats:italic>AP4S1<\/jats:italic> in neuronal development and homeostasis, we engineered the first zebrafish model of AP\u20104 deficiency using morpholino\u2010mediated knockdown of <jats:italic>ap4s1<\/jats:italic>. In this model, we discovered several phenotypes mimicking SPG52, including altered CNS development, locomotor deficits, and abnormal neuronal excitability.<\/jats:p>","DOI":"10.1002\/acn3.51018","type":"journal-article","created":{"date-parts":[[2020,3,26]],"date-time":"2020-03-26T04:40:18Z","timestamp":1585197618000},"page":"584-589","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Loss of <i>ap4s1<\/i> in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52"],"prefix":"10.1002","volume":"7","author":[{"given":"Angelica","family":"D\u2019Amore","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine IRCCS Stella Maris Foundation Pisa Italy"},{"name":"Department of Biology University of Pisa Pisa Italy"},{"name":"Department of Neurology &amp; The F.M. 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