{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:02:39Z","timestamp":1792641759202,"version":"4.5.0"},"reference-count":45,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T00:00:00Z","timestamp":1682294400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32000359"],"award-info":[{"award-number":["32000359"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32170543"],"award-info":[{"award-number":["32170543"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Disease"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1016\/j.nbd.2023.106135","type":"journal-article","created":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T16:45:32Z","timestamp":1683045932000},"page":"106135","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["YIPF5 (p.W218R) mutation induced primary microcephaly in rabbits"],"prefix":"10.1016","volume":"182","author":[{"given":"Xin","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaoyi","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruonan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyu","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongtian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liangxue","family":"Lai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhanjun","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuning","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nbd.2023.106135_bb0005","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms1155","article-title":"Neural stem and progenitor cells shorten S-phase on commitment to neuron production","volume":"2","author":"Arai","year":"2011","journal-title":"Nat. Commun."},{"key":"10.1016\/j.nbd.2023.106135_bb0010","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1093\/brain\/awt021","article-title":"\u2018North Sea\u2019 progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation","volume":"136","author":"Boisse Lomax","year":"2013","journal-title":"Brain."},{"key":"10.1016\/j.nbd.2023.106135_bb0015","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/s00415-014-7369-9","article-title":"Postictal serum creatine kinase for the differential diagnosis of epileptic seizures and psychogenic non-epileptic seizures: a systematic review","volume":"262","author":"Brigo","year":"2015","journal-title":"J. Neurol."},{"key":"10.1016\/j.nbd.2023.106135_bb0020","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1038\/s41467-021-27705-7","article-title":"Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly","volume":"13","author":"Carpentieri","year":"2022","journal-title":"Nat. Commun."},{"key":"10.1016\/j.nbd.2023.106135_bb0025","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1002\/ar.24586","article-title":"Central nervous system development in rabbits (Oryctolagus cuniculus L. 1758)","volume":"304","author":"de Almeida da Anunciacao","year":"2021","journal-title":"Anat. Rec. (Hoboken)."},{"key":"10.1016\/j.nbd.2023.106135_bb0030","doi-asserted-by":"crossref","first-page":"6338","DOI":"10.1172\/JCI141455","article-title":"YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress","volume":"130","author":"De Franco","year":"2020","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.nbd.2023.106135_bb0035","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1016\/S1473-3099(17)30398-5","article-title":"Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management","volume":"18","author":"Devakumar","year":"2018","journal-title":"Lancet Infect. Dis."},{"key":"10.1016\/j.nbd.2023.106135_bb0040","doi-asserted-by":"crossref","first-page":"2911","DOI":"10.1093\/brain\/awaa235","article-title":"YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations","volume":"143","author":"Diaz","year":"2020","journal-title":"Brain."},{"key":"10.1016\/j.nbd.2023.106135_bb0045","doi-asserted-by":"crossref","first-page":"1556","DOI":"10.1091\/mbc.e09-12-1002","article-title":"Yip1A structures the mammalian endoplasmic reticulum","volume":"21","author":"Dykstra","year":"2010","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.nbd.2023.106135_bb0050","doi-asserted-by":"crossref","first-page":"pe7","DOI":"10.1126\/scisignal.3110pe7","article-title":"ER stress in pancreatic beta cells: the thin red line between adaptation and failure","volume":"3","author":"Eizirik","year":"2010","journal-title":"Sci. Signal."},{"key":"10.1016\/j.nbd.2023.106135_bb0055","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1146\/annurev-pathmechdis-031521-034739","article-title":"Pathogenesis of Zika virus infection","volume":"18","author":"Giraldo","year":"2022","journal-title":"Annu. Rev. Pathol"},{"key":"10.1016\/j.nbd.2023.106135_bb0060","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/s41593-017-0038-4","article-title":"Stress-induced unfolded protein response contributes to Zika virus-associated microcephaly","volume":"21","author":"Gladwyn-Ng","year":"2018","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.nbd.2023.106135_bb0065","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1038\/nrm1739","article-title":"The cell biology of neurogenesis","volume":"6","author":"Gotz","year":"2005","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.nbd.2023.106135_bb0070","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1038\/nrneurol.2017.99","article-title":"ER stress and the unfolded protein response in neurodegeneration","volume":"13","author":"Hetz","year":"2017","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.nbd.2023.106135_bb0075","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/s10038-022-01090-5","article-title":"A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome","volume":"68","author":"Hiraide","year":"2023","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.nbd.2023.106135_bb0080","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1262\/jrd.2017-053","article-title":"Rabbit models for biomedical research revisited via genome editing approaches","volume":"63","author":"Honda","year":"2017","journal-title":"J. Reprod. Dev."},{"key":"10.1016\/j.nbd.2023.106135_bb0085","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1146\/annurev.neuro.051508.135600","article-title":"The glial nature of embryonic and adult neural stem cells","volume":"32","author":"Kriegstein","year":"2009","journal-title":"Annu. Rev. Neurosci."},{"key":"10.1016\/j.nbd.2023.106135_bb0090","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.devcel.2015.11.005","article-title":"A dynamic unfolded protein response contributes to the control of cortical neurogenesis","volume":"35","author":"Laguesse","year":"2015","journal-title":"Dev. Cell"},{"key":"10.1016\/j.nbd.2023.106135_bb0095","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/s00441-014-1979-5","article-title":"Progenitor genealogy in the developing cerebral cortex","volume":"359","author":"Laguesse","year":"2015","journal-title":"Cell Tissue Res."},{"key":"10.1016\/j.nbd.2023.106135_bb0100","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.stem.2016.04.017","article-title":"Zika virus disrupts neural progenitor development and leads to microcephaly in mice","volume":"19","author":"Li","year":"2016","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.nbd.2023.106135_bb0105","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1038\/s41421-018-0042-1","article-title":"Disruption of glial cell development by Zika virus contributes to severe microcephalic newborn mice","volume":"4","author":"Li","year":"2018","journal-title":"Cell. Discov."},{"key":"10.1016\/j.nbd.2023.106135_bb0110","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/j.ajhg.2019.08.006","article-title":"Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis","volume":"105","author":"Magini","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.nbd.2023.106135_bb0115","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1750-1172-6-39","article-title":"Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum","volume":"6","author":"Mahmood","year":"2011","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.nbd.2023.106135_bb0120","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1111\/joa.13055","article-title":"New insights into the development of the human cerebral cortex","volume":"235","author":"Molnar","year":"2019","journal-title":"J. Anat."},{"key":"10.1016\/j.nbd.2023.106135_bb0125","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/B978-0-444-52891-9.00013-0","article-title":"Microcephaly","volume":"111","author":"Passemard","year":"2013","journal-title":"Handb. Clin. Neurol."},{"key":"10.1016\/j.nbd.2023.106135_bb0130","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1101\/gad.348866.121","article-title":"Time is of the essence: the molecular mechanisms of primary microcephaly","volume":"35","author":"Phan","year":"2021","journal-title":"Genes Dev."},{"key":"10.1016\/j.nbd.2023.106135_bb0135","article-title":"YIPF5 is essential for innate immunity to DNA virus and facilitates COPII-dependent STING trafficking (vol 203, pg 1560, 2019)","volume":"208","author":"Ran","year":"2022","journal-title":"J. Immunol."},{"key":"10.1016\/j.nbd.2023.106135_bb0140","doi-asserted-by":"crossref","first-page":"130","DOI":"10.3389\/fcell.2019.00130","article-title":"Characteristics and functions of the Yip1 domain family (YIPF), multi-span transmembrane proteins mainly localized to the Golgi apparatus","volume":"7","author":"Shaik","year":"2019","journal-title":"Front. Cell. Dev. Biol."},{"key":"10.1016\/j.nbd.2023.106135_bb0145","doi-asserted-by":"crossref","first-page":"2959","DOI":"10.1007\/s00018-016-2143-z","article-title":"Efficient dual sgRNA-directed large gene deletion in rabbit with CRISPR\/Cas9 system","volume":"73","author":"Song","year":"2016","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.nbd.2023.106135_bb0150","doi-asserted-by":"crossref","first-page":"38176","DOI":"10.18632\/oncotarget.16979","article-title":"Mutation of the Sp1 binding site in the 5\u2032 flanking region of SRY causes sex reversal in rabbits","volume":"8","author":"Song","year":"2017","journal-title":"Oncotarget."},{"key":"10.1016\/j.nbd.2023.106135_bb0155","doi-asserted-by":"crossref","first-page":"3265","DOI":"10.1007\/s00018-019-03354-4","article-title":"Genetic deletion of a short fragment of glucokinase in rabbit by CRISPR\/Cas9 leading to hyperglycemia and other typical features seen in MODY-2","volume":"77","author":"Song","year":"2020","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.nbd.2023.106135_bb0160","doi-asserted-by":"crossref","first-page":"R33","DOI":"10.1016\/j.cub.2003.12.021","article-title":"Vesicle transport: a close collaboration of Rabs and effectors","volume":"14","author":"Spang","year":"2004","journal-title":"Curr. Biol."},{"key":"10.1016\/j.nbd.2023.106135_bb0165","first-page":"2661","article-title":"CRISPR\/Cas9-mediated mutation of PHEX in rabbit recapitulates human X-linked hypophosphatemia (XLH)","volume":"25","author":"Sui","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2023.106135_bb0170","doi-asserted-by":"crossref","DOI":"10.1038\/cddis.2017.147","article-title":"Novel prosurvival function of Yip1A in human cervical cancer cells: constitutive activation of the IRE1 and PERK pathways of the unfolded protein response","volume":"8","author":"Taguchi","year":"2017","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.nbd.2023.106135_bb0175","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1515\/revneuro-2021-0020","article-title":"Defects in early secretory pathway transport machinery components and neurodevelopmental disorders","volume":"32","author":"Tang","year":"2021","journal-title":"Rev. Neurosci."},{"key":"10.1016\/j.nbd.2023.106135_bb0180","doi-asserted-by":"crossref","first-page":"40008","DOI":"10.1074\/jbc.M106189200","article-title":"A membrane protein enriched in endoplasmic reticulum exit sites interacts with COPII","volume":"276","author":"Tang","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.nbd.2023.106135_bb0185","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.tig.2009.09.011","article-title":"Primary microcephaly: do all roads lead to Rome?","volume":"25","author":"Thornton","year":"2009","journal-title":"Trends Genet."},{"key":"10.1016\/j.nbd.2023.106135_bb0190","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1126\/science.aba8853","article-title":"Unconstrained genome targeting with near-PAMless engineered CRISPR-Cas9 variants","volume":"368","author":"Walton","year":"2020","journal-title":"Science."},{"key":"10.1016\/j.nbd.2023.106135_bb0195","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/2045-9769-3-3","article-title":"Generation of knockout rabbits using transcription activator-like effector nucleases","volume":"3","author":"Wang","year":"2014","journal-title":"Cell Regen."},{"key":"10.1016\/j.nbd.2023.106135_bb0200","doi-asserted-by":"crossref","first-page":"15184","DOI":"10.1073\/pnas.1904360116","article-title":"YIPF6 controls sorting of FGF21 into COPII vesicles and promotes obesity","volume":"116","author":"Wang","year":"2019","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.nbd.2023.106135_bb0205","article-title":"ER-to-Golgi trafficking and its implication in neurological diseases","volume":"9","author":"Wang","year":"2020","journal-title":"Cells."},{"key":"10.1016\/j.nbd.2023.106135_bb0210","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.conb.2004.01.003","article-title":"Human microcephaly","volume":"14","author":"Woods","year":"2004","journal-title":"Curr. Opin. Neurobiol."},{"key":"10.1016\/j.nbd.2023.106135_bb0215","doi-asserted-by":"crossref","first-page":"3427","DOI":"10.1016\/j.yexcr.2008.07.023","article-title":"YIPF5 and YIF1A recycle between the ER and the Golgi apparatus and are involved in the maintenance of the Golgi structure","volume":"314","author":"Yoshida","year":"2008","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.nbd.2023.106135_bb0220","doi-asserted-by":"crossref","DOI":"10.1167\/iovs.16-21287","article-title":"CRISPR\/Cas9-mediated mutation of alphaA-Crystallin gene induces congenital cataracts in rabbits","volume":"58","author":"Yuan","year":"2017","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.nbd.2023.106135_bb0225","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1016\/j.omtn.2022.01.019","article-title":"Highly efficient A-to-G base editing by ABE8.17 in rabbits","volume":"27","author":"Zhao","year":"2022","journal-title":"Mol. Ther. Nucleic. Acids."}],"container-title":["Neurobiology of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996123001493?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996123001493?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T05:37:57Z","timestamp":1760852277000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0969996123001493"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6]]},"references-count":45,"alternative-id":["S0969996123001493"],"URL":"https:\/\/doi.org\/10.1016\/j.nbd.2023.106135","relation":{},"ISSN":["0969-9961"],"issn-type":[{"value":"0969-9961","type":"print"}],"subject":[],"published":{"date-parts":[[2023,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"YIPF5 (p.W218R) mutation induced primary microcephaly in rabbits","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nbd.2023.106135","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"106135"}}