{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:19:01Z","timestamp":1747149541449,"version":"3.40.5"},"reference-count":46,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T00:00:00Z","timestamp":1695859200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100018625","name":"Science and Technology Innovation Plan Of Shanghai Science and Technology Commission","doi-asserted-by":"publisher","award":["22ZR1414000"],"award-info":[{"award-number":["22ZR1414000"]}],"id":[{"id":"10.13039\/501100018625","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2018YFA0801000"],"award-info":[{"award-number":["2018YFA0801000"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020441","name":"Shanghai Center for Brain Science and Brain-Inspired Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020441","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Biallelic mutations in AP4S1, the \u03c34 subunit of the adaptor protein complex 4 (AP\u20104), lead to autosomal recessive spastic paraplegia 52 (SPG52). It is a subtype of AP\u20104\u2010associated hereditary spastic paraplegia (AP\u20104\u2010HSP), a complex childhood\u2010onset neurogenetic disease characterized by progressive spastic paraplegia of the lower limbs. This disease has so far lacked effective treatment, in part due to a lack of suitable animal models. Here, we used CRISPR\/Cas9 technology to generate a truncation mutation in the <jats:italic>ap4s1<\/jats:italic> gene in zebrafish. The <jats:italic>ap4s1<\/jats:italic> truncation led to motor impairment, delayed neurodevelopment, and distal axonal degeneration. This animal model is useful for further research into AP\u20104 and AP\u20104\u2010HSP.<\/jats:p>","DOI":"10.1002\/jdn.10303","type":"journal-article","created":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T10:22:36Z","timestamp":1695896556000},"page":"753-764","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<i>Ap4s1<\/i> truncation leads to axonal defects in a zebrafish model of spastic paraplegia 52"],"prefix":"10.1002","volume":"83","author":[{"given":"Yiduo","family":"Li","sequence":"first","affiliation":[{"name":"State Key Laboratory of Medical Neurobiology, Ministry of Education Frontiers Center for Brain Science, and Institutes of Brain Science Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cuizhen","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Neurobiology, Ministry of Education Frontiers Center for Brain Science, and Institutes of Brain Science Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6625-5426","authenticated-orcid":false,"given":"Gang","family":"Peng","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Neurobiology, Ministry of Education Frontiers Center for Brain Science, and Institutes of Brain Science Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,9,28]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29524"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz310"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000273"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0092-8674(02)00735-3"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51018"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-28609-w"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-06172-7"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.542"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007363"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-cellbio-100818-125234"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0301-0082(02)00075-8"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2021.102335"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcab221"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38561"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz307"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pro.3870"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.80865"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.3390\/vetsci9020092"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21176198"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1080\/15548627.2019.1615302"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07422"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1002030302"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2020.07.001"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-0082(03)00052-2"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1155\/2021\/6673343"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E22-05-0177"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23939"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.902510202"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23147665"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2019.01311"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1042\/BSR20140069"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbior.2022.100945"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E21-09-0473"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.06.007"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.67453"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1097-4695(199812)37:4<622::aid-neu10>3.0.co;2-s"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcac335"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1218311110"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(19)30235-2"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.639239"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2007.05.164"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2019.101575"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12264-021-00755-z"},{"key":"e_1_2_11_45_1","doi-asserted-by":"publisher","DOI":"10.1159\/000328516"},{"key":"e_1_2_11_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2020.108249"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgg.2021.08.019"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10303","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T10:30:17Z","timestamp":1702981817000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.10303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,28]]},"references-count":46,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/jdn.10303"],"URL":"https:\/\/doi.org\/10.1002\/jdn.10303","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"type":"print","value":"0736-5748"},{"type":"electronic","value":"1873-474X"}],"subject":[],"published":{"date-parts":[[2023,9,28]]},"assertion":[{"value":"2023-04-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}