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Localization signals within ataxin-3 influence the formation of intranuclear aggregates in spinocerebellar ataxia type 3

PMA Antony, J Boy, B Henderson, T Stamminger, O Rieß, T Schmidt · Aktuelle Neurologie · 2007 · Heft 09

Dokument
1137125
CareLit-ID
Jahr
2007
Publikation
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Metadaten
DOI
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Bibliografische Angaben

Zeitschrift
Aktuelle Neurologie
Autor:innen
PMA Antony, J Boy, B Henderson, T Stamminger, O Rieß, T Schmidt
Ausgabe
Heft 09 / 2007
Seiten
–
Erschienen: 2007-09-11 00:00:00
ISSN
0302-4350
DOI
10.1055/s-2007-987448

Zusammenfassung

Spinocerebellar Ataxia Type 3 (SCA3) or Machado-Joseph disease (MJD), is an autosomal dominantly inherited neurodegenerative disorder caused by the expansion of a CAG stretch in the MJD1 gene resulting in an expanded polyglutamine repeat in the encoded ataxin-3 protein. SCA3 therefore belongs to the group of the so called polyglutamine diseases. Ataxin-3 is mainly localized in the cytoplasm. However, one hallmark of SCA3 is the formation of ataxin-3 containing intranuclear aggregates. We recently demonstrated in vivo using transgenic mouse models the importance of intracellular localization of expanded ataxin-3…

Schlagworte

Ataxin-3 Ataxia Amino Acids Lead Ataxin-3-Protein Aktuelle Neurologie