{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T19:19:39Z","timestamp":1791314379605,"version":"4.3.1"},"reference-count":29,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2015,5,26]],"date-time":"2015-05-26T00:00:00Z","timestamp":1432598400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0127687","type":"journal-article","created":{"date-parts":[[2015,5,26]],"date-time":"2015-05-26T18:24:32Z","timestamp":1432664672000},"page":"e0127687","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":40,"title":["Discovery of Novel Isoforms of Huntingtin Reveals a New Hominid-Specific Exon"],"prefix":"10.1371","volume":"10","author":[{"given":"Albert","family":"Ruzo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismail","family":"Ismailoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Popowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomomi","family":"Haremaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gist F.","family":"Croft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Deglincerti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali H.","family":"Brivanlou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2015,5,26]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"R130","DOI":"10.1186\/gb-2009-10-11-r130","article-title":"BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources","volume":"10","author":"C Wu","year":"2009","journal-title":"Genome Biol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"D561","DOI":"10.1093\/nar\/gks1114","article-title":"BioGPS and MyGene.info: organizing online, gene-centric information","volume":"41","author":"C Wu","year":"2013","journal-title":"Nucleic Acids Res"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1471-213X-5-17","article-title":"Inactivation of the Huntington&apos;s disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo","volume":"5","author":"JM Woda","year":"2005","journal-title":"BMC Dev Biol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1038\/ng1095-155","article-title":"Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington&apos;s disease gene homologue","volume":"11","author":"S Zeitlin","year":"1995","journal-title":"Nat Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1242\/dev.125.8.1529","article-title":"Mouse mutant embryos lacking huntingtin are rescued from lethality by wild-type extraembryonic tissues","volume":"125","author":"I Dragatsis","year":"1998","journal-title":"Development"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1602\/neurorx.2.3.465","article-title":"Knock-in mouse models of Huntington&apos;s disease","volume":"2","author":"LB Menalled","year":"2005","journal-title":"NeuroRx"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/S0165-6147(00)01884-8","article-title":"Mouse models of Huntington&apos;s disease","volume":"23","author":"LB Menalled","year":"2002","journal-title":"Trends Pharmacol Sci"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/S1474-4422(10)70245-3","article-title":"Huntington&apos;s disease: from molecular pathogenesis to clinical treatment","volume":"10","author":"CA Ross","year":"2011","journal-title":"Lancet Neurol"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1093\/hmg\/3.1.85","article-title":"Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat [corrected]","volume":"3","author":"B Lin","year":"1994","journal-title":"Human Molecular Genetics"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1016\/j.jmb.2013.12.028","article-title":"Identification of novel alternative splicing events in the huntingtin gene and assessment of the functional consequences using structural protein homology modelling","volume":"426","author":"AC Hughes","year":"2014","journal-title":"J Mol Biol"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"2366","DOI":"10.1073\/pnas.1221891110","article-title":"Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease","volume":"110","author":"K Sathasivam","year":"2013","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"3883","DOI":"10.1093\/hmg\/dds216","article-title":"Early transcriptional changes linked to naturally occurring Huntington&apos;s disease mutations in neural derivatives of human embryonic stem cells","volume":"21","author":"M Feyeux","year":"2012","journal-title":"Human Molecular Genetics"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.ydbio.2006.03.026","article-title":"Contribution of human embryonic stem cells to mouse blastocysts","volume":"295","author":"D James","year":"2006","journal-title":"Dev Biol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/j.devcel.2009.02.007","article-title":"The miR-430\/427\/302 family controls mesendodermal fate specification via species-specific target selection","volume":"16","author":"A Rosa","year":"2009","journal-title":"Dev Cell"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1089\/scd.2010.0120","article-title":"Derivation of Huntington&apos;s disease-affected human embryonic stem cell lines","volume":"20","author":"CK Bradley","year":"2011","journal-title":"Stem Cells Dev"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"39626","DOI":"10.1074\/jbc.M112.412379","article-title":"Identification of a karyopherin \u03b21\/\u03b22 proline-tyrosine nuclear localization signal in huntingtin protein","volume":"287","author":"CR Desmond","year":"2012","journal-title":"J Biol Chem"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"2600","DOI":"10.1093\/hmg\/ddm217","article-title":"Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity","volume":"16","author":"RS Atwal","year":"2007","journal-title":"Human Molecular Genetics"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"91","DOI":"10.4161\/auto.5201","article-title":"A stress sensitive ER membrane-association domain in Huntingtin protein defines a potential role for Huntingtin in the regulation of autophagy","volume":"4","author":"RS Atwal","year":"2008","journal-title":"Autophagy"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1093\/hmg\/dds554","article-title":"The huntingtin N17 domain is a multifunctional CRM1 and Ran-dependent nuclear and cilial export signal","volume":"22","author":"T Maiuri","year":"2013","journal-title":"Human Molecular Genetics"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1093\/hmg\/ddg156","article-title":"Huntingtin contains a highly conserved nuclear export signal","volume":"12","author":"J Xia","year":"2003","journal-title":"Human Molecular Genetics"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1083\/jcb.200412071","article-title":"Cdk5 phosphorylation of huntingtin reduces its cleavage by caspases: implications for mutant huntingtin toxicity","volume":"169","author":"S Luo","year":"2005","journal-title":"J Cell Biol"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"7862","DOI":"10.1523\/JNEUROSCI.22-18-07862.2002","article-title":"Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington&apos;s disease","volume":"22","author":"CL Wellington","year":"2002","journal-title":"J Neurosci"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1038\/sj.cdd.4401358","article-title":"Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington&apos;s disease","volume":"11","author":"E Hermel","year":"2004","journal-title":"Cell Death Differ"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.nbd.2005.02.013","article-title":"Huntingtin is cleaved by caspases in the cytoplasm and translocated to the nucleus via perinuclear sites in Huntington&apos;s disease patient lymphoblasts","volume":"20","author":"A Sawa","year":"2005","journal-title":"Neurobiology of Disease"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"19831","DOI":"10.1074\/jbc.M001475200","article-title":"Inhibiting caspase cleavage of huntingtin reduces toxicity and aggregate formation in neuronal and nonneuronal cells","volume":"275","author":"CL Wellington","year":"2000","journal-title":"J Biol Chem"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"5254","DOI":"10.1073\/pnas.0914114107","article-title":"Dynamic transcriptomes during neural differentiation of human embryonic stem cells revealed by short, long, and paired-end sequencing","volume":"107","author":"JQ Wu","year":"2010","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"12550","DOI":"10.1073\/pnas.1405839111","article-title":"MRI-localized biopsies reveal subtype-specific differences in molecular and cellular composition at the margins of glioblastoma","volume":"111","author":"BJ Gill","year":"2014","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref28","article-title":"Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses","volume":"15","author":"Y Shi","year":"2012","journal-title":"Nat Neurosci"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1038\/nprot.2012.016","article-title":"Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks","volume":"7","author":"C Trapnell","year":"2012","journal-title":"Nat Protoc"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0127687","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,9]],"date-time":"2022-05-09T12:38:54Z","timestamp":1652099934000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0127687"}},"subtitle":[],"editor":[{"given":"Sandrine","family":"Humbert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2015,5,26]]},"references-count":29,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2015,5,26]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0127687","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,26]]}}}