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Article: Widespread expression of Huntington's Disease gene (IT15) protein product

TitleWidespread expression of Huntington's Disease gene (IT15) protein product
Authors
Issue Date1995
PublisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/neuron
Citation
Neuron, 1995, v. 14 n. 5, p. 1065-1074 How to Cite?
AbstractHuntington's Disease (HD) is caused by expansion of a CAG repeat within a putative open reading frame of a recently identified gene, IT15. We have examined the expression of the gene's protein product using antibodies developed against the N-terminus and an internal epitope. Both antisera recognize a 350 kDa protein, the predicted size, indicating that the CAG repeat is translated into polyglutamine. The HD protein product is widely expressed, most highly in neurons in the brain. There is no enrichment in the striatum, the site of greatest pathology in HD. Within neurons, the protein is diminished in nuclei and mitochondria and is present in the soluble cytoplasmic compartment, as well as loosely associated with membranes or cytoskeleton, in cell bodies, dendrites, and axons. It is concentrated in nerve terminals, including terminals within the caudate and putamen. Thus, the normal HD gene product may be involved in common intracellular functions, and possibly in regulation of nerve terminal function. The product of the expanded allele is expressed, consistent with a gain of function mechanism for HD at the protein level.
Persistent Identifierhttp://hdl.handle.net/10722/176341
ISSN
2015 Impact Factor: 13.974
2015 SCImago Journal Rankings: 11.464
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorSharp, AHen_US
dc.contributor.authorLoev, SJen_US
dc.contributor.authorSchilling, Gen_US
dc.contributor.authorLi, SHen_US
dc.contributor.authorLi, XJen_US
dc.contributor.authorBao, Jen_US
dc.contributor.authorWagster, MVen_US
dc.contributor.authorKotzuk, JAen_US
dc.contributor.authorSteiner, JPen_US
dc.contributor.authorLo, Aen_US
dc.contributor.authorHedreen, Jen_US
dc.contributor.authorSisodia, Sen_US
dc.contributor.authorSnyder, SHen_US
dc.contributor.authorDawson, TMen_US
dc.contributor.authorRyugo, DKen_US
dc.contributor.authorRoss, CAen_US
dc.date.accessioned2012-11-26T09:10:41Z-
dc.date.available2012-11-26T09:10:41Z-
dc.date.issued1995en_US
dc.identifier.citationNeuron, 1995, v. 14 n. 5, p. 1065-1074en_US
dc.identifier.issn0896-6273en_US
dc.identifier.urihttp://hdl.handle.net/10722/176341-
dc.description.abstractHuntington's Disease (HD) is caused by expansion of a CAG repeat within a putative open reading frame of a recently identified gene, IT15. We have examined the expression of the gene's protein product using antibodies developed against the N-terminus and an internal epitope. Both antisera recognize a 350 kDa protein, the predicted size, indicating that the CAG repeat is translated into polyglutamine. The HD protein product is widely expressed, most highly in neurons in the brain. There is no enrichment in the striatum, the site of greatest pathology in HD. Within neurons, the protein is diminished in nuclei and mitochondria and is present in the soluble cytoplasmic compartment, as well as loosely associated with membranes or cytoskeleton, in cell bodies, dendrites, and axons. It is concentrated in nerve terminals, including terminals within the caudate and putamen. Thus, the normal HD gene product may be involved in common intracellular functions, and possibly in regulation of nerve terminal function. The product of the expanded allele is expressed, consistent with a gain of function mechanism for HD at the protein level.en_US
dc.languageengen_US
dc.publisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/neuronen_US
dc.relation.ispartofNeuronen_US
dc.subject.meshAmino Acid Sequenceen_US
dc.subject.meshAnimalsen_US
dc.subject.meshAntibody Specificityen_US
dc.subject.meshBlotting, Westernen_US
dc.subject.meshBrain - Ultrastructureen_US
dc.subject.meshBrain Chemistryen_US
dc.subject.meshCell Fractionationen_US
dc.subject.meshGene Expressionen_US
dc.subject.meshHumansen_US
dc.subject.meshHuntington Disease - Geneticsen_US
dc.subject.meshImmunohistochemistryen_US
dc.subject.meshMicroscopy, Immunoelectronen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshNerve Tissue Proteinsen_US
dc.subject.meshNuclear Proteinsen_US
dc.subject.meshProteins - Analysis - Chemistry - Geneticsen_US
dc.subject.meshRatsen_US
dc.subject.meshRepetitive Sequences, Nucleic Aciden_US
dc.subject.meshTissue Distributionen_US
dc.titleWidespread expression of Huntington's Disease gene (IT15) protein producten_US
dc.typeArticleen_US
dc.identifier.emailLo, A: amylo@hkucc.hku.hken_US
dc.identifier.authorityLo, A=rp00425en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/0896-6273(95)90345-3-
dc.identifier.pmid7748554-
dc.identifier.scopuseid_2-s2.0-0029034511en_US
dc.identifier.volume14en_US
dc.identifier.issue5en_US
dc.identifier.spage1065en_US
dc.identifier.epage1074en_US
dc.identifier.isiWOS:A1995QY93500019-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridSharp, AH=7102195951en_US
dc.identifier.scopusauthoridLoev, SJ=6506979792en_US
dc.identifier.scopusauthoridSchilling, G=7103323657en_US
dc.identifier.scopusauthoridLi, SH=7409243010en_US
dc.identifier.scopusauthoridLi, XJ=36012660600en_US
dc.identifier.scopusauthoridBao, J=55111823700en_US
dc.identifier.scopusauthoridWagster, MV=6701449835en_US
dc.identifier.scopusauthoridKotzuk, JA=6507822761en_US
dc.identifier.scopusauthoridSteiner, JP=7201651895en_US
dc.identifier.scopusauthoridLo, A=7102780640en_US
dc.identifier.scopusauthoridHedreen, J=7003841229en_US
dc.identifier.scopusauthoridSisodia, S=7102763509en_US
dc.identifier.scopusauthoridSnyder, SH=35406091300en_US
dc.identifier.scopusauthoridDawson, TM=7201651324en_US
dc.identifier.scopusauthoridRyugo, DK=7005274717en_US
dc.identifier.scopusauthoridRoss, CA=8075002800en_US

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