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dc.contributor.authorPountney, D.en_US
dc.contributor.authorHuang, Y.en_US
dc.contributor.authorBurns, R.en_US
dc.contributor.authorHaan, E.en_US
dc.contributor.authorThompson, P.en_US
dc.contributor.authorBlumbergs, P.en_US
dc.contributor.authorGai, W.en_US
dc.date.accessioned2017-05-03T15:03:34Z
dc.date.available2017-05-03T15:03:34Z
dc.date.issued2003en_US
dc.date.modified2009-01-13T07:11:00Z
dc.identifier.issn00144886en_US
dc.identifier.doi10.1016/j.expneurol.2003.07.004en_AU
dc.identifier.urihttp://hdl.handle.net/10072/16890
dc.description.abstractNeuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by progressive ataxia and neuronal nuclear inclusions (NIs), similar to the inclusions found in expanded CAG repeat diseases. NIID may be familial or sporadic. The cause of familial NIID is poorly understood, as no CAG expansion has been detected. We examined three cases, from two unrelated families, who had autosomal dominant NIID but normal CAG repeats in genes involved in polyglutamine neurodegenerative diseases. We found that NIs in all three cases were intensely immunopositive for SUMO-1, a protein which covalently conjugates to other proteins and targets them to the nuclear regions (nuclear bodies) responsible for nuclear proteasomal degradation. Electron microscopy demonstrated that SUMO-1 was located on the 10-nm fibrils of NIs. In cultured PC12 cells, we found that inhibition of proteasome function by specific inhibitors resulted in the appearance of SUMO-1-immunopositive nuclear inclusions. Our study suggests that recruitment of SUMO-1 modified proteins into insoluble nuclear inclusions and proteasomal dysfunction may be involved in the pathogenesis of NIs in familial NIID cases.en_US
dc.description.peerreviewedYesen_US
dc.description.publicationstatusYesen_AU
dc.languageEnglishen_US
dc.language.isoen_AU
dc.publisherAcademic Pressen_US
dc.publisher.placeIrelanden_US
dc.publisher.urihttp://www.elsevier.com/locate/yexnren_AU
dc.relation.ispartofpagefrom436en_US
dc.relation.ispartofpageto446en_US
dc.relation.ispartofissue1en_US
dc.relation.ispartofjournalExperimental Neurologyen_US
dc.relation.ispartofvolume184en_US
dc.subject.fieldofresearchcode270107en_US
dc.titleSUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion diseaseen_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Peer Reviewed (HERDC)en_US
dc.type.codeC - Journal Articlesen_US
gro.date.issued2003
gro.hasfulltextNo Full Text


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