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MetabolomicsMetabolomics analysis of Friedreich's ataxia (FRDA) (part I)
Not available
ORGANISM(S): Homo sapiens 
ST002244 | MetabolomicsWorkbench
MetabolomicsLipidomics analysis of Friedreich's ataxia (FRDA) (part II)
Not available
ORGANISM(S): Homo sapiens 
ST002243 | MetabolomicsWorkbench
MetabolomicsMetabolome analysis in the diagnosis of childhood cerebellar ataxia
Not available
ORGANISM(S): Homo sapiens 
ST001518 | MetabolomicsWorkbench
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
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
MetabolomicsA pathogenic role for histone H3 copper reductase activity in a yeast model of Friedreich’s Ataxia
Not available
ORGANISM(S): Saccharomyces cerevisiae 
ST001954 | MetabolomicsWorkbench
TranscriptomicsEZH2-mediated H3K27 trimethylation mediates neurodegeneration in ataxia-telangiectasia
The symptoms of ataxia-telangiectasia (A-T) include a progressive neurodegeneration caused by ATM protein deficiency. We previously found that nuclear accumulation of histone deacetylase-4, HDAC4, contributes to this degeneration; we now report that increased histone H3K27 trimethylation (H3K27me3) ...
ORGANISM(S): Mus musculus 
2013-10-25 | E-GEOD-50951 | biostudies-arrayexpress
TranscriptomicsAtaxia-telangiectasia cerebellar cortex expression
Cerebellar cortex expression in ataxia-telangiectasia patients and normal controls. The neurodegenerative disease known as ataxia-telangiectasia (A-T) is caused by the absence of the ATM (A-T mutated) protein. A long-standing mystery surrounding A-T is why cerebellar Purkinje cells (PCs) appear uni...
ORGANISM(S): Homo sapiens 
2015-10-30 | E-GEOD-61019 | biostudies-arrayexpress
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
TranscriptomicsHuman iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks
Control (CRL2429 C11) and A-T (MC3/AT30) iPSC were differentiated according to Erceg et al to generate cerebellar precursors Examination of changes in gene expression after a 34 day differentiation protocol in control and A-T iPSC
ORGANISM(S): Homo sapiens 
2017-10-02 | E-GEOD-75852 | biostudies-arrayexpress
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