Polyglutamine Expansions
نویسندگان
چکیده
منابع مشابه
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Cerebellar ataxias with autosomal dominant transmission are rare, but identification of the associated genes has provided insight into the mechanisms that could underlie other forms of genetic or non-genetic ataxias. In many instances, the phenotype is not restricted to cerebellar dysfunction but includes complex multisystemic neurological deficits. The designation of the loci, SCA for spinocer...
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tant to proteasome-mediated degradation than the wildAt least eight diseases share a common mechanism of type polyQ protein. These data suggest that the mutant onset: the expansion of a CAG repeat in the genome, form of a polyQ protein is indeed more resistant to degleading to the production of mutant protein with an exradation than the wild-type form. Intriguingly, mice carpanded polyglutamine...
متن کاملLarge-scale assessment of polyglutamine repeat expansions in Parkinson disease.
OBJECTIVES We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). METHODS We invited researchers from the Genetic Epidemiology of Parkinson's Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, S...
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Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a polyglutamine expansion in huntingtin. There are no treatments that are known to slow the neurodegeneration caused by this mutation. Mutant huntingtin causes disease via a toxic gain-of-function mechanism and has the propensity to aggregate and form intraneuronal inclusions. One therapeutic approach for HD ...
متن کاملCAG Expansions Are Genetically Stable and Form Nontoxic Aggregates in Cells Lacking Endogenous Polyglutamine Proteins
Proteins containing polyglutamine (polyQ) regions are found in almost all eukaryotes, albeit with various frequencies. In humans, proteins such as huntingtin (Htt) with abnormally expanded polyQ regions cause neurodegenerative diseases such as Huntington's disease (HD). To study how the presence of endogenous polyQ aggregation modulates polyQ aggregation and toxicity, we expressed polyQ expande...
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ژورنال
عنوان ژورنال: Neuron
سال: 2000
ISSN: 0896-6273
DOI: 10.1016/s0896-6273(00)81132-0