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TranscriptomicsRNA-seq of Spinocerebellar Ataxia Type2 (SCA2) transgenic mouse lines and age-matched wild-type
Spinocerebellar ataxia type 2 (SCA2) is among the progressive neurodegenerative polyglutamine (polyQ) diseases. It is caused by a CAG repeat expansion in an encoded region of the ATXN2 gene giving rise to an expanded polyQ domain in the encoded ATXN2 protein. SCA2 is an autosomal dominant disorder c...
ORGANISM(S): Mus musculus 
2017-12-09 | E-MTAB-6293 | biostudies-arrayexpress
TranscriptomicsVulnerability of Purkinje cells induced from spinocerebellar ataxia type 6 patient-derived iPS cells [1]
Spinocerebellar ataxia type 6 (SCA6) is a dominantly inherited neurodegenerative disease characterized by loss of Purkinje cells in the cerebellum. SCA6 is caused by CAG trinucleotide repeat expansion in CACNA1A, which encodes Cav2.1, ?1A subunit of P/Q-type calcium channel. However, the pathogenic ...
ORGANISM(S): Homo sapiens 
2016-11-08 | E-GEOD-85347 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of mouse knock in mutant model for spinocerebellar ataxia type 1 and type 7 - symptomatic Sca1154Q/2Q and Sca7266Q/5Q cerebellum
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 
2009-01-09 | E-GEOD-9914 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of ataxin-null (Atxn-null) vs. wild type mice to investigate spinocerebellar ataxia type 1 (SCA1)
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 
2006-12-01 | E-MEXP-886 | biostudies-arrayexpress
GenomicsSpinocerebellar ataxia type 3 RNA-sequencing study
RNA-Sequencing from human post-mortem Spinocerebellar ataxia type 3 patients. This sequencing experiment was carried out to validate that the transcriptional changes of an Ataxin-3 knock-in mouse model (expressing an expansion of 304 CAG/CAAs either heterozygous or homozygous in the murine Ataxin-3 ...
EGAS00001004241 | EGA
TranscriptomicsTranscriptome analysis of Spinocerebellar Ataxia 17 Aug
Transcriptome analysis of extracted total RNA from the the cerebellum and muscle of Spinocerebellar Ataxia 17 knock-in mouse model
ORGANISM(S): Mus musculus 
2015-08-19 | GSE72176 | GEO
TranscriptomicsCapicua-dependent transcriptional changes in adult mouse cerebellum
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 
2011-11-07 | E-GEOD-32051 | biostudies-arrayexpress
GenomicsCardiovascular exercise drives neuroprotection in Spinocerebellar Ataxia 1 via rescue of abherrant splicing
Cardiovascular exercise drives neuroprotection in Spinocerebellar Ataxia 1 via rescue of abherrant splicing
PRJNA1433255 | ENA
UnknownModulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Not available
S-EPMC4132646 | biostudies-literature
GenomicSpinocerebellar Ataxias Natural History

Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCA and this study will focus on types 1, 2, 3, and 6 (SCA 1, SCA 2, SCA 3, also known as Machado-Joseph disease and SCA 6). The diseases ...

phs001332 | dbGaP
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