Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease caused by expansion of a glutamine-encoding repeat in ataxin 1 ( ATXN1 ). In all known polyglutamine diseases, the glutamine expansion confers toxic functions onto the protein; however, the mechanism by which th...

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Veröffentlicht in:	Nature 2008-04, Vol.452 (7188), p.713-718
Hauptverfasser:	Zoghbi, Huda Y, Lim, Janghoo, Crespo-Barreto, Juan, Jafar-Nejad, Paymaan, Bowman, Aaron B, Richman, Ronald, Hill, David E, Orr, Harry T
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Animals Ataxin-1 Ataxins Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Drosophila melanogaster Drosophila Proteins - genetics Drosophila Proteins - metabolism Gene expression Genetic disorders Humanities and Social Sciences Humans Medical sciences Mice multidisciplinary Multiprotein Complexes - chemistry Multiprotein Complexes - metabolism Mutation Nerve Tissue Proteins - chemistry Nerve Tissue Proteins - genetics Nerve Tissue Proteins - metabolism Neurological disorders Neurology Nuclear Proteins - chemistry Nuclear Proteins - genetics Nuclear Proteins - metabolism Open Reading Frames - genetics Peptides - genetics Peptides - metabolism Protein Binding Protein Structure, Quaternary Proteins Purkinje Cells - cytology Purkinje Cells - metabolism Repressor Proteins - metabolism Ribonucleoprotein, U2 Small Nuclear - genetics Ribonucleoprotein, U2 Small Nuclear - metabolism RNA Splicing Factors RNA-Binding Proteins - genetics RNA-Binding Proteins - metabolism Science Science (multidisciplinary) Spinocerebellar Ataxias - genetics Spinocerebellar Ataxias - metabolism Spinocerebellar Ataxias - pathology Trinucleotide Repeat Expansion - genetics Two-Hybrid System Techniques
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