{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T00:30:37Z","timestamp":1792715437283,"version":"4.5.0"},"reference-count":172,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP-115033"],"award-info":[{"award-number":["MOP-115033"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Autosomal recessive primary microcephaly (MCPH) is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability. MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism. In this review, we discuss the key proteins mutated in MCPH. To date, MCPH-causing mutations have been identified in twelve different genes, many of which encode proteins that are involved in cell cycle regulation or are present at the centrosome, an organelle crucial for mitotic spindle assembly and cell division. We highlight recent findings on MCPH proteins with regard to their role in cell cycle progression, centrosome function, and early brain development.<\/jats:p>","DOI":"10.1155\/2014\/547986","type":"journal-article","created":{"date-parts":[[2014,12,8]],"date-time":"2014-12-08T21:02:44Z","timestamp":1418072564000},"page":"1-13","source":"Crossref","is-referenced-by-count":95,"title":["Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly"],"prefix":"10.1155","volume":"2014","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5025-2172","authenticated-orcid":true,"given":"Marine","family":"Barbelanne","sequence":"first","affiliation":[{"name":"Institut de Recherches Cliniques de Montr\u00e9al, 110 avenue des Pins Ouest, Montr\u00e9al, QC, Canada H2W 1R7"},{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, QC, Canada H3C 3J7"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William Y.","family":"Tsang","sequence":"additional","affiliation":[{"name":"Institut de Recherches Cliniques de Montr\u00e9al, 110 avenue des Pins Ouest, Montr\u00e9al, QC, Canada H2W 1R7"},{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, QC, Canada H3C 3J7"},{"name":"Division of Experimental Medicine, McGill University, Montr\u00e9al, QC, Canada H3A 1A3"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2006.06.006"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-39"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2012-302882"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1086\/429930"},{"key":"5","first-page":"129","volume-title":"Microcephaly","volume":"111","year":"2013"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181b8799a"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200104000-00003"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2013.04.016"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2009.09.011"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2009.11.002"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1101\/gad.169037"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.4161\/cc.5.20.3358"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1086\/341283"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1038\/ng995"},{"key":"15","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/ng1539","volume":"37","year":"2005","journal-title":"Nature Genetics"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1038\/ng.682"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhs212"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2005.10.005"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-169X.2012.01350.x"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-cellbio-101011-155801"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.023465"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.4161\/cc.5.4.2481"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1038\/ng.683"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.4161\/cc.4.9.2029"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.01.017"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.03.016"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.06.003"},{"key":"28","doi-asserted-by":"publisher","DOI":"10.1038\/ng.971"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt374"},{"key":"30","doi-asserted-by":"publisher","DOI":"10.1134\/S0006297908060023"},{"key":"31","doi-asserted-by":"publisher","DOI":"10.1126\/science.1209037"},{"key":"32","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-010-0323-9"},{"key":"33","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.10.036"},{"key":"34","doi-asserted-by":"publisher","DOI":"10.1186\/2046-2530-2-9"},{"key":"35","doi-asserted-by":"publisher","DOI":"10.4172\/2329-8847.1000113"},{"key":"36","doi-asserted-by":"publisher","DOI":"10.1101\/gad.894001"},{"key":"37","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2345"},{"key":"38","doi-asserted-by":"publisher","DOI":"10.1016\/S0070-2153(99)49021-0"},{"key":"39","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-012-1102-6"},{"key":"40","doi-asserted-by":"publisher","DOI":"10.1086\/301966"},{"key":"41","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejcb.2014.01.005"},{"key":"42","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1210595"},{"key":"43","doi-asserted-by":"publisher","DOI":"10.1038\/embor.2008.128"},{"key":"44","doi-asserted-by":"publisher","DOI":"10.4161\/cc.8.19.9411"},{"key":"45","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1895"},{"key":"46","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M804080200"},{"key":"47","doi-asserted-by":"publisher","DOI":"10.4161\/cc.5.3.2412"},{"key":"48","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200810159"},{"key":"49","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2342"},{"key":"50","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000826"},{"key":"51","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0009242"},{"key":"52","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2013.04.017"},{"key":"53","doi-asserted-by":"publisher","DOI":"10.1038\/nature09327"},{"key":"54","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34417"},{"key":"55","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.107326"},{"key":"56","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-178"},{"key":"57","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2001.5948"},{"key":"58","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2013.12.016"},{"key":"59","doi-asserted-by":"publisher","DOI":"10.1098\/rsob.130065"},{"key":"60","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms4885"},{"key":"61","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1014664107"},{"key":"62","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E07-04-0371"},{"key":"63","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201007030"},{"key":"64","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201106093"},{"key":"65","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0087016"},{"key":"66","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2011.04.007"},{"key":"67","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2010.05.017"},{"key":"68","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.020248"},{"key":"69","doi-asserted-by":"publisher","DOI":"10.4161\/cc.8.8.8205"},{"key":"70","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2010.03.036"},{"key":"71","doi-asserted-by":"publisher","DOI":"10.1242\/dev.040410"},{"key":"72","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds386"},{"key":"73","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E07-10-1051"},{"key":"74","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2011.09.017"},{"key":"75","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201110013"},{"key":"76","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2007.09.005"},{"key":"77","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.093724"},{"key":"78","doi-asserted-by":"publisher","DOI":"10.1086\/379085"},{"key":"79","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00304.x"},{"key":"80","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201169"},{"key":"81","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.027706"},{"key":"82","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-006-0042-4"},{"key":"83","doi-asserted-by":"publisher","DOI":"10.1080\/01677060701508594"},{"key":"84","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32312"},{"key":"85","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32749"},{"key":"86","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.062380"},{"key":"87","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.03.013"},{"key":"88","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.076398"},{"key":"89","doi-asserted-by":"publisher","DOI":"10.1177\/0883073809346850"},{"key":"90","doi-asserted-by":"publisher","DOI":"10.1086\/316909"},{"key":"91","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E06-04-0371"},{"key":"92","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2121-11-85"},{"key":"93","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0604066103"},{"issue":"4","key":"94","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1242\/jcs.96.4.605","volume":"96","year":"1990","journal-title":"Journal of Cell Science"},{"issue":"5","key":"95","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1242\/jcs.115.5.913","volume":"115","year":"2002","journal-title":"Journal of Cell Science"},{"key":"96","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1010494107"},{"issue":"2","key":"97","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1242\/dev.108.2.251","volume":"108","year":"1990","journal-title":"Development"},{"key":"98","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2013.10.006"},{"key":"99","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0049303"},{"key":"100","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi220"},{"key":"101","doi-asserted-by":"publisher","DOI":"10.3892\/or_00000007"},{"key":"102","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-07-5262"},{"key":"103","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0097059"},{"key":"104","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3373"},{"key":"105","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2005.08.004"},{"key":"106","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2007.07.002"},{"key":"107","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.129502"},{"key":"108","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1319656110"},{"key":"109","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201006049"},{"key":"110","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201007107"},{"key":"111","doi-asserted-by":"publisher","DOI":"10.1038\/nature09445"},{"key":"112","doi-asserted-by":"publisher","DOI":"10.1126\/science.1199325"},{"key":"113","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.01.008"},{"key":"114","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2012.280"},{"key":"115","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2013.03.011"},{"key":"116","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2006.07.059"},{"key":"117","doi-asserted-by":"publisher","DOI":"10.1038\/nature05318"},{"key":"118","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2011.378"},{"key":"119","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E04-02-0121"},{"key":"120","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2008.05.012"},{"key":"121","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2013.06.002"},{"key":"122","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201212060"},{"key":"123","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2013.56"},{"key":"124","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1889"},{"key":"125","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2009.05.016"},{"key":"126","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2009.05.018"},{"key":"127","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2005.11.074"},{"key":"128","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms1367"},{"key":"129","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.20.7813-7825.2000"},{"key":"130","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2527"},{"key":"131","doi-asserted-by":"publisher","DOI":"10.1093\/molbev\/mst231"},{"key":"132","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003022"},{"key":"133","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01655.x"},{"key":"134","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.104109"},{"key":"135","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.099887"},{"key":"136","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1320"},{"key":"137","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1220"},{"key":"138","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.089888"},{"key":"139","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00175-07"},{"key":"140","doi-asserted-by":"publisher","DOI":"10.1038\/21429"},{"key":"141","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2008.09.016"},{"key":"142","doi-asserted-by":"publisher","DOI":"10.1007\/s00709-013-0488-9"},{"key":"143","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E13-03-0149"},{"key":"144","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2012.06.001"},{"key":"145","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.113506"},{"key":"146","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200402022"},{"key":"147","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2007.09.021"},{"key":"148","doi-asserted-by":"publisher","DOI":"10.1002\/cm.20433"},{"key":"149","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E12-08-0577"},{"key":"150","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E08-11-1115"},{"key":"151","doi-asserted-by":"publisher","DOI":"10.1038\/ng.725"},{"key":"152","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2012.10.016"},{"key":"153","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0069986"},{"key":"154","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2012.12.030"},{"key":"155","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M805872200"},{"key":"156","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.10.043"},{"key":"157","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt072"},{"key":"158","doi-asserted-by":"publisher","DOI":"10.1038\/sj.embor.7400527"},{"key":"159","doi-asserted-by":"publisher","DOI":"10.1042\/BC20080109"},{"key":"160","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3629"},{"key":"161","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1201570"},{"key":"162","doi-asserted-by":"publisher","DOI":"10.4161\/cc.8.17.9521"},{"issue":"10","key":"163","first-page":"2077","volume":"11","year":"1995","journal-title":"Oncogene"},{"key":"164","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2004.08.002"},{"key":"165","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2013.02.012"},{"key":"166","doi-asserted-by":"publisher","DOI":"10.1002\/stem.616"},{"key":"167","doi-asserted-by":"publisher","DOI":"10.1126\/science.1151174"},{"key":"168","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2746"},{"key":"169","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200385"},{"key":"170","doi-asserted-by":"publisher","DOI":"10.1086\/302777"},{"key":"171","doi-asserted-by":"publisher","DOI":"10.1086\/302640"},{"key":"172","doi-asserted-by":"publisher","DOI":"10.1086\/316910"}],"container-title":["BioMed Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2014\/547986.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2014\/547986.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2014\/547986.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,24]],"date-time":"2022-04-24T01:58:41Z","timestamp":1650765521000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/bmri\/2014\/547986\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":172,"alternative-id":["547986","547986"],"URL":"https:\/\/doi.org\/10.1155\/2014\/547986","relation":{},"ISSN":["2314-6133","2314-6141"],"issn-type":[{"value":"2314-6133","type":"print"},{"value":"2314-6141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}