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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
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 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
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
GenomicsTranscriptomic approach reveals splicing dysregulation in spinocerebellar ataxia type 1
Transcriptomic approach reveals splicing dysregulation in spinocerebellar ataxia type 1
PRJNA971864 | ENA
TranscriptomicsEpigenetic therapy for Friedreich ataxia.
We set out to investigate whether a histone deacetylase inhibitor (HDACi) would be effective in an in vitro model for the neurodegenerative disease Friedreich ataxia (FRDA) and to evaluate safety and surrogate markers of efficacy in a phase I clinical trial in patients. In the neuronal cell model, H...
ORGANISM(S): Homo sapiens 
2015-01-29 | E-GEOD-65399 | biostudies-arrayexpress
ProteomicsPolyQ-expanded ataxin-1 formed insoluble protein inclusions perturbing translation in a spinocerebellar ataxia type-1 model
Spinocerebellar ataxia type-1 is caused by an abnormally expanded polyglutamine (polyQ) tract in ataxin-1 protein. These expansions are responsible for protein misfolding and self-assembly into intranuclear inclusion bodies (IIBs) that are linked to neuronal death. Here, we describe a nuclear protei...
ORGANISM(S): Homo sapiens (Human) 
2020-02-18 | PXD012709 | Pride
Ataxin-1 Sleeping beauty transposon Protein network Polyglutamine Afm Ribosome Nucleolus. Spinocerebellar ataxia type-1 Rna-seq 
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
TranscriptomicsMutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2 [01_fibroblasts_patientAndcarrier]
Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To as...
ORGANISM(S): Homo sapiens 
2014-09-15 | E-GEOD-61320 | biostudies-arrayexpress
TranscriptomicsMutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2 [02_fibroblasts_transfected]
Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To as...
ORGANISM(S): Homo sapiens 
2014-09-15 | E-GEOD-61321 | biostudies-arrayexpress
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