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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
TranscriptomicsSelective loss of 5hmC links to A-T Purkinje cell vulnerability
This SuperSeries is composed of the SubSeries listed below. 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 uniquely vulnerable to ATM-...
ORGANISM(S): Homo sapiens 
2015-10-30 | E-GEOD-61169 | biostudies-arrayexpress
TranscriptomicsSelf-organization of polarized cerebellar plate neuroepithelium in three-dimensional culture of human pluripotent stem cells
During cerebellar development, the main portion of the cerebellar plate neuroepithelium (NE) gives birth to Purkinje cells and interneurons, while the germinal zone at its dorsal edge, called the rhombic lip (RL), generates granule cells and cerebellar nuclei neurons. However, it remains elusive how...
ORGANISM(S): Homo sapiens 
2015-04-15 | E-GEOD-63015 | 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
GenomicsMeDIP analysis of 5mC and 5hmC marks in human ataxia-telangiectasia cerebellum
Genomic DNA was prepared, fragmented, and immunoprecipitated with antibodies specific for 5mC or 5hmC prior to standard sequencing. 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 i...
ORGANISM(S): Homo sapiens 
2015-10-30 | E-GEOD-61133 | 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 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
TranscriptomicsBAC-trap studies of Purkinje cells in normal and FMR1 mutant mice
The molecular mechanism(s) leading to Purkinje neuron loss in the neurodegenerative disorder Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) are limited by the complex morphology of this cell type. Purkinje neurons are notoriously difficult to isolate and maintain in culture presenting considera...
ORGANISM(S): Mus musculus 
2014-05-01 | E-GEOD-57034 | biostudies-arrayexpress
TranscriptomicsNorth American Brain Expression Consortium: Laser capture microdissection of Cerebellar Purkinje Cells
Previous studies in bulk tissue suggest that there are abundant expression quantitative trait loci (eQTLs) in human brain. This sample series is of cerebellar Purkinje cells isolated using laser capture microdissection from human cases without neurological disease but of known genotypes. These data ...
ORGANISM(S): Homo sapiens 
2013-01-01 | E-GEOD-37205 | biostudies-arrayexpress
TranscriptomicsGene expression of cerebellar Purkinje cells
We performed gene-expression analysis of mouse Purkinje cells as a model M-bM-^@M-^\single-type neuronM-bM-^@M-^]. DNA microarray analysis detected at least 7,055 genes in Purkinje cells, most of which are classified into functional molecule categories. Our comparative analysis between Purkinje cell...
ORGANISM(S): Mus musculus 
2013-01-17 | E-GEOD-26749 | biostudies-arrayexpress
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