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Expression of ataxi...
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Jonasson, Jenni
(författare)
Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals
- Artikel/kapitelEngelska2002
Förlag, utgivningsår, omfång ...
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2002-03-02
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Springer,2002
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printrdacarrier
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:umu-3799
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-3799URI
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https://doi.org/10.1007/s00401-001-0514-4DOI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:art swepub-publicationtype
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Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder primarily affecting the cerebellum, brain stem and retina. The disease is caused by an expanded polyglutamine tract in the protein ataxin-7. In this study we analyzed the expression pattern of ataxin-7 in CNS and non-CNS tissue from three SCA7 patients and age-matched controls. SCA7 is a rare autosomal dominant disorder, limiting the number of patients available for analysis. We therefore compiled data on ataxin-7 expression from all SCA7 patients (n=5) and controls (n=7) published to date, and compared with the results obtained in this study. Expression of ataxin-7 was found in neurons throughout the CNS and was highly abundant in Purkinje cells of the cerebellum, in regions of the hippocampus and in cerebral cortex. Ataxin-7 expression was not restricted to regions of pathology, and there were no apparent regional differences in ataxin-7 expression patterns between patients and controls. The subcellular distribution of ataxin-7 was primarily nuclear in all brain regions studied. In cerebellar Purkinje cells, however, differences in subcellular distribution of ataxin-7 were observed between patients and controls of different ages. Here we provide an increased understanding of the distribution of ataxin-7, and the possible implication of subcellular localization of this protein on disease pathology is discussed.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Ström, Anna-LenaUmeå universitet,Institutionen för molekylärbiologi (Medicinska fakulteten)
(författare)
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Hart, Patricia
(författare)
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Brännström, ThomasUmeå universitet,Patologi(Swepub:umu)thbr0001
(författare)
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Forsgren, Lars
(författare)
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Holmberg, MonicaUmeå universitet,Institutionen för molekylärbiologi (Medicinska fakulteten)(Swepub:umu)moho0003
(författare)
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Umeå universitetInstitutionen för molekylärbiologi (Medicinska fakulteten)
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Acta Neuropathologica: Springer104:1, s. 29-370001-63221432-0533
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