{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:50:25Z","timestamp":1790776225257,"version":"4.1.0"},"reference-count":64,"publisher":"American Society for Clinical Investigation","issue":"12","funder":[{"DOI":"10.13039\/501100004923","name":"AFM-T\u00e9l\u00e9thon","doi-asserted-by":"crossref","award":["grant"],"award-info":[{"award-number":["grant"]}],"id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100014865","name":"Fondation Maladies Rares","doi-asserted-by":"crossref","award":["grant"],"award-info":[{"award-number":["grant"]}],"id":[{"id":"10.13039\/100014865","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001677","name":"INSERM","doi-asserted-by":"crossref","award":["ATIP-Avenir"],"award-info":[{"award-number":["ATIP-Avenir"]}],"id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004923","name":"AFM-T\u00e9l\u00e9thon","doi-asserted-by":"crossref","award":["fellowship"],"award-info":[{"award-number":["fellowship"]}],"id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Fondation pour la Recherche M\u00e9dicale","award":["fellowship"],"award-info":[{"award-number":["fellowship"]}]},{"name":"Fondation pour la Recherche M\u00e9dicale","award":["fellowship"],"award-info":[{"award-number":["fellowship"]}]},{"name":"Fondation pour la Recherche M\u00e9dicale","award":["fellowship"],"award-info":[{"award-number":["fellowship"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,10,28]]},"DOI":"10.1172\/jci129788","type":"journal-article","created":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T15:18:04Z","timestamp":1568215084000},"page":"5312-5326","source":"Crossref","is-referenced-by-count":23,"title":["Sonic Hedgehog repression underlies gigaxonin mutation\u2013induced motor deficits in giant axonal neuropathy"],"prefix":"10.1172","volume":"129","author":[{"given":"Yoan","family":"Arribat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina S.","family":"Mysiak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e9a","family":"Lescouz\u00e8res","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexia","family":"Boizot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maxime","family":"Ruiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2275-0817","authenticated-orcid":false,"given":"Mireille","family":"Rossel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7216-3261","authenticated-orcid":false,"given":"Pascale","family":"Bomont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"232","published-online":{"date-parts":[[2019,10,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90346-1"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4883-04.2005"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/0306-4522(94)00555-J"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2005.06.003"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70228-4"},{"issue":"Pt 3","key":"B6","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1113\/jphysiol.2007.142448","article-title":"Corticostriatal synaptic function in mouse models of Huntington\u2019s disease: early effects of huntingtin repeat length and protein load","volume":"585","author":"Milnerwood","year":"2007","journal-title":"J Physiol (Lond)"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4701-07.2007"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.22189"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0912171106"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0715-14.2014"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1603871113"},{"issue":"6","key":"B12","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1542\/peds.49.6.894","article-title":"Giant axonal neuropathy","volume":"49","author":"Berg","year":"1972","journal-title":"Pediatrics"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24321"},{"key":"B14"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1038\/81701"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.035162"},{"key":"B17","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1326-6-25","article-title":"Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice","volume":"6","author":"Ganay","year":"2011","journal-title":"Mol Neurodegener"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1056"},{"key":"B19","doi-asserted-by":"crossref","DOI":"10.1186\/2051-5960-2-47","article-title":"The instability of the BTB-KELCH protein gigaxonin causes giant axonal neuropathy and constitutes a new penetrant and specific diagnostic test","volume":"2","author":"Boizot","year":"2014","journal-title":"Acta Neuropathol Commun"},{"key":"B20","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/bs.mie.2015.07.009","article-title":"Degradation of the intermediate filament family by gigaxonin","volume":"569","author":"Bomont","year":"2016","journal-title":"Meth Enzymol"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-197607000-00006"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2008.05601.x"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw081"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1172\/JCI66387"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg092"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp044"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu556"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-08331-w"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1101\/gad.938601"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1038\/35049541"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1023\/A:1019940932275"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.3.022502.103031"},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2008.11.010"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3598"},{"key":"B35","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2018.00008","article-title":"Signaling through the Primary Cilium","volume":"6","author":"Wheway","year":"2018","journal-title":"Front Cell Dev Biol"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010053"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0505328102"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.4161\/cc.5.21.3406"},{"key":"B39","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006054"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M113.541219"},{"key":"B41","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2015.05.016"},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001721"},{"key":"B43","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.02555","article-title":"Requirement of Smurf-mediated endocytosis of Patched1 in sonic hedgehog signal reception","volume":"3","author":"Yue","year":"2014","journal-title":"Elife"},{"key":"B44","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00960-14"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-0082(03)00052-2"},{"issue":"12","key":"B46","doi-asserted-by":"crossref","first-page":"2385","DOI":"10.1242\/dev.128.12.2385","article-title":"Analysis of the zebrafish smoothened mutant reveals conserved and divergent functions of hedgehog activity","volume":"128","author":"Chen","year":"2001","journal-title":"Development"},{"key":"B47","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2005.04.010"},{"issue":"18","key":"B48","doi-asserted-by":"crossref","first-page":"3497","DOI":"10.1242\/dev.128.18.3497","article-title":"Zebrafish smoothened functions in ventral neural tube specification and axon tract formation","volume":"128","author":"Varga","year":"2001","journal-title":"Development"},{"key":"B49","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33508"},{"key":"B50","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00364"},{"key":"B51","doi-asserted-by":"publisher","DOI":"10.1038\/35023008"},{"key":"B52","doi-asserted-by":"publisher","DOI":"10.1038\/nature04117"},{"key":"B53","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1997.8604"},{"key":"B54","doi-asserted-by":"crossref","DOI":"10.3389\/fncel.2013.00086","article-title":"Sonic hedgehog and Wnt: antagonists in morphogenesis but collaborators in axon guidance","volume":"7","author":"Avil\u00e9s","year":"2013","journal-title":"Front Cell Neurosci"},{"key":"B55","doi-asserted-by":"publisher","DOI":"10.1242\/dev.120154"},{"key":"B56","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.08.017"},{"key":"B57","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10884"},{"key":"B58","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-357"},{"issue":"1","key":"B59","doi-asserted-by":"crossref","first-page":"98","DOI":"10.3171\/2018.7.PEDS18292","article-title":"A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases","volume":"23","author":"Rubino","year":"2018","journal-title":"J Neurosurg Pediatr"},{"issue":"8","key":"B60","doi-asserted-by":"crossref","DOI":"10.3390\/ijms19082423","article-title":"Emerging roles of Sonic Hedgehog in adult neurological diseases: neurogenesis and beyond","volume":"19","author":"Chen","year":"2018","journal-title":"Int J Mol Sci"},{"key":"B61","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2010.06642.x"},{"key":"B62","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-1012-2"},{"key":"B63","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.09.012"},{"issue":"14","key":"B64","article-title":"Hedgehog (Hh) reporter activity assay","volume":"4","author":"Zhao","year":"2014","journal-title":"Bio-Protoc"}],"container-title":["Journal of Clinical Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jci.org\/articles\/view\/129788\/files\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T17:31:12Z","timestamp":1691083872000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jci.org\/articles\/view\/129788"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,28]]},"references-count":64,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2019,10,22]]},"published-print":{"date-parts":[[2019,10,22]]}},"alternative-id":["10.1172\/JCI129788"],"URL":"https:\/\/doi.org\/10.1172\/jci129788","relation":{},"ISSN":["0021-9738","1558-8238"],"issn-type":[{"value":"0021-9738","type":"print"},{"value":"1558-8238","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,28]]}}}