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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
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
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
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
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
TranscriptomicsSmall RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich's ataxia patients
Friedreich’s ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients showed additional non-neurological features such as scoliosis, diabetes and cardiac complications. Hypertrophic cardiomyopathy,...
ORGANISM(S): Homo sapiens 
2017-10-18 | E-GEOD-105052 | biostudies-arrayexpress
UnknownStage-dependent biomarker changes in spinocerebellar ataxia type 3.
Not available
S-EPMC10168503 | biostudies-literature
UnknownRegional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.
Not available
S-EPMC9521507 | biostudies-literature
TranscriptomicsTranscription profiling of human lymphoblast cells from a Freidriechs Ataxia patient incubated with pyrrole-imidazole polyamides targeted to the GAA triplet repeat in the intron 1 reveals polyamides alleviate transcription inhibition associated with long repeat srepeats in Friedreicha??s ataxia
Lymphoblast cells from a patient with Freidriech's Ataxia were incubated with pyrrole-imidazole polyamides targeted to the GAA triplet repeat in the intron 1. The polyamides were shown in cell culture to increase levels of endogenous frataxin mRNA. A normal sibling derived lymphoblast cell line wa...
ORGANISM(S): Homo sapiens 
2008-06-13 | E-GEOD-5040 | biostudies-arrayexpress
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