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Comparative analysis of cerebellar gene expression changes occurring in Sca1154Q/2Q and Sca7266Q/5Q knock-in mice; Polyglutamine diseases are inherited neurodegenerative disorders caused by expansion of CAG repeats encoding a glutamine tract in the disease-causing proteins. There are nine disorders...
ORGANISM(S): Mus musculus 
Ataxin 1 (Atxn1) is a protein of unknown function associated with cerebellar neurodegeneration in spinocerebellar ataxia type 1 (SCA1). SCA1 is caused by an expanded polyglutamine within Atxn1 by gain-of-function mechanisms. Lack of Atxn1 in mice triggers motor deficits in the absence of neurodegene...
ORGANISM(S): Mus musculus 
Analysis of cerebella from Capicua (Cic) mutant mice and wild-type controls at 28 days of age (P28). Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative disease caused by expansion of a translated CAG repeat in Ataxin-1 (ATXN1). The transcriptional repressor Cic binds directly to Atxn1...
ORGANISM(S): Mus musculus 
RNA-Seq was performed in post-mortem SCA1 cerebellum at the end stage of the disease and an age/sex-matched control tissue from a healthy individual.
ORGANISM(S): Homo sapiens 
Transcriptomic approach reveals splicing dysregulation in spinocerebellar ataxia type 1
A protein aggregation model of human ataxin-1(Q82) was generated in human mesenchymal cells using the Sleeping Beauty transposon system. These cells inducibly express the pathogenic protein that causes SCA1 disease. Here, we describe the transcriptional changes occurring in cells which contain diffe...
ORGANISM(S): Homo sapiens 
A number of human neurodegenerative diseases result from the expansion of a glutamine repeat within the disease-causing protein. Spinocerebellar ataxia type1 is one such disease, caused by expansion of a polyglutamine tract in the novel protein ataxin-1. To faithfully model SCA1 in the mouse, we gen...
ORGANISM(S): Mus musculus 
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