{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T12:35:34Z","timestamp":1793190934469,"version":"4.5.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2011,5,1]],"date-time":"2011-05-01T00:00:00Z","timestamp":1304208000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":810,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2011,5]]},"DOI":"10.1016\/j.ajhg.2011.04.003","type":"journal-article","created":{"date-parts":[[2011,5,2]],"date-time":"2011-05-02T01:41:04Z","timestamp":1304300464000},"page":"536-547","source":"Crossref","is-referenced-by-count":222,"title":["Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly"],"prefix":"10.1016","volume":"88","author":[{"given":"Fowzan\u00a0S.","family":"Alkuraya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuyu","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carina","family":"Emery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ganeshwaran\u00a0H.","family":"Mochida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed\u00a0S.","family":"Al-Dosari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian\u00a0M.","family":"Felie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.\u00a0Sean","family":"Hill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brenda\u00a0J.","family":"Barry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer\u00a0N.","family":"Partlow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Generoso\u00a0G.","family":"Gascon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amal","family":"Kentab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Jan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ranad","family":"Shaheen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanyi","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher\u00a0A.","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2011.04.003_bib1","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.ajhg.2011.04.003_bib2","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/j.semcdb.2010.07.008","article-title":"Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies","volume":"21","author":"Wynshaw-Boris","year":"2010","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2011.04.003_bib3","doi-asserted-by":"crossref","first-page":"2838","DOI":"10.1001\/jama.1993.03510230076039","article-title":"Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13","volume":"270","author":"Dobyns","year":"1993","journal-title":"JAMA"},{"key":"10.1016\/j.ajhg.2011.04.003_bib4","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0092-8674(00)80899-5","article-title":"Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein","volume":"92","author":"Gleeson","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2011.04.003_bib5","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/79246","article-title":"Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations","volume":"26","author":"Hong","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.04.003_bib6","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1002\/humu.20572","article-title":"Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)","volume":"28","author":"Poirier","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2011.04.003_bib7","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/nature09327","article-title":"Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations","volume":"467","author":"Bilg\u00fcvar","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2011.04.003_bib8","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1038\/ng.682","article-title":"WDR62 is associated with the spindle pole and is mutated in human microcephaly","volume":"42","author":"Nicholas","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.04.003_bib9","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/ng.683","article-title":"Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture","volume":"42","author":"Yu","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.04.003_bib10","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1002\/ajmg.1320180320","article-title":"Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly","volume":"18","author":"Dobyns","year":"1984","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2011.04.003_bib11","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1017\/S0317167100025981","article-title":"Lissencephaly","volume":"3","author":"Norman","year":"1976","journal-title":"Can. J. Neurol. Sci."},{"key":"10.1016\/j.ajhg.2011.04.003_bib12","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1083\/jcb.150.3.681","article-title":"The LIS1-related NUDF protein of Aspergillus nidulans interacts with the coiled-coil domain of the NUDE\/RO11 protein","volume":"150","author":"Efimov","year":"2000","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2011.04.003_bib13","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1016\/S0896-6273(00)00145-8","article-title":"LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome","volume":"28","author":"Feng","year":"2000","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2011.04.003_bib14","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.neuron.2004.09.023","article-title":"Mitotic spindle regulation by Nde1 controls cerebral cortical size","volume":"44","author":"Feng","year":"2004","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2011.04.003_bib15","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.cell.2010.02.035","article-title":"LIS1 and NudE induce a persistent dynein force-producing state","volume":"141","author":"McKenney","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2011.04.003_bib16","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1111\/j.1399-0004.2007.00888.x","article-title":"Lissencephaly and LIS1: Insights into the molecular mechanisms of neuronal migration and development","volume":"72","author":"Wynshaw-Boris","year":"2007","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2011.04.003_bib17","doi-asserted-by":"crossref","first-page":"2441","DOI":"10.1093\/hmg\/ddn144","article-title":"Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination","volume":"17","author":"Pawlisz","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2011.04.003_bib18","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.cell.2008.01.026","article-title":"Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division","volume":"132","author":"Yingling","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2011.04.003_bib19","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.ajhg.2011.03.019","article-title":"The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis","volume":"88","author":"Bakircioglu","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.04.003_bib20","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1016\/j.cub.2007.05.077","article-title":"Cenp-F links kinetochores to Ndel1\/Nde1\/Lis1\/dynein microtubule motor complexes","volume":"17","author":"Vergnolle","year":"2007","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ajhg.2011.04.003_bib21","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/S0896-6273(00)00146-X","article-title":"A LIS1\/NUDEL\/cytoplasmic dynein heavy chain complex in the developing and adult nervous system","volume":"28","author":"Sasaki","year":"2000","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2011.04.003_bib22","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1083\/jcb.200610112","article-title":"NudE and NudEL are required for mitotic progression and are involved in dynein recruitment to kinetochores","volume":"178","author":"Stehman","year":"2007","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2011.04.003_bib23","doi-asserted-by":"crossref","first-page":"6048","DOI":"10.1038\/sj.onc.1209637","article-title":"Centrosomal proteins Nde1 and Su48 form a complex regulated by phosphorylation","volume":"25","author":"Hirohashi","year":"2006","journal-title":"Oncogene"},{"key":"10.1016\/j.ajhg.2011.04.003_bib24","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1038\/ng995","article-title":"ASPM is a major determinant of cerebral cortical size","volume":"32","author":"Bond","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.04.003_bib25","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/ng1539","article-title":"A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size","volume":"37","author":"Bond","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.04.003_bib26","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1002\/ajmg.a.32312","article-title":"Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally","volume":"146A","author":"Desir","year":"2008","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2011.04.003_bib27","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1016\/j.str.2007.09.015","article-title":"The structure of the coiled-coil domain of Ndel1 and the basis of its interaction with Lis1, the causal protein of Miller-Dieker lissencephaly","volume":"15","author":"Derewenda","year":"2007","journal-title":"Structure"},{"key":"10.1016\/j.ajhg.2011.04.003_bib28","doi-asserted-by":"crossref","first-page":"10762","DOI":"10.1073\/pnas.0805139105","article-title":"A quantitative atlas of mitotic phosphorylation","volume":"105","author":"Dephoure","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2011.04.003_bib29","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1128\/MCB.00878-06","article-title":"NDEL1 phosphorylation by Aurora-A kinase is essential for centrosomal maturation, separation, and TACC3 recruitment","volume":"27","author":"Mori","year":"2007","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2011.04.003_bib30","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1128\/MCB.23.4.1239-1250.2003","article-title":"Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle","volume":"23","author":"Yan","year":"2003","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2011.04.003_bib31","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1038\/86737","article-title":"A motif-based profile scanning approach for genome-wide prediction of signaling pathways","volume":"19","author":"Yaffe","year":"2001","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ajhg.2011.04.003_bib32","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1016\/S0896-6273(00)00147-1","article-title":"NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein","volume":"28","author":"Niethammer","year":"2000","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2011.04.003_bib33","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.neuron.2004.09.030","article-title":"Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning","volume":"44","author":"Shu","year":"2004","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2011.04.003_bib34","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1038\/leu.2009.290","article-title":"The NDE1 gene is disrupted by the inv(16) in 90% of cases with CBFB-MYH11-positive acute myeloid leukemia","volume":"24","author":"Van der Reijden","year":"2010","journal-title":"Leukemia"},{"key":"10.1016\/j.ajhg.2011.04.003_bib35","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1242\/jcs.059337","article-title":"Functional interplay between LIS1, NDE1 and NDEL1 in dynein-dependent organelle positioning","volume":"123","author":"Lam","year":"2010","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.ajhg.2011.04.003_bib36","doi-asserted-by":"crossref","first-page":"7812","DOI":"10.1128\/MCB.25.17.7812-7827.2005","article-title":"Complete loss of Ndel1 results in neuronal migration defects and early embryonic lethality","volume":"25","author":"Sasaki","year":"2005","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2011.04.003_bib37","doi-asserted-by":"crossref","first-page":"3113","DOI":"10.1093\/hmg\/ddi339","article-title":"Recruitment of katanin p60 by phosphorylated NDEL1, an LIS1 interacting protein, is essential for mitotic cell division and neuronal migration","volume":"14","author":"Toyo-Oka","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2011.04.003_bib38","doi-asserted-by":"crossref","first-page":"2471","DOI":"10.1038\/emboj.2008.182","article-title":"LIS1 and NDEL1 coordinate the plus-end-directed transport of cytoplasmic dynein","volume":"27","author":"Yamada","year":"2008","journal-title":"EMBO J."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711001443?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711001443?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,3,20]],"date-time":"2021-03-20T03:19:30Z","timestamp":1616210370000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929711001443"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5]]},"references-count":38,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011,5]]}},"alternative-id":["S0002929711001443"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2011.04.003","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2011,5]]}}}