GEO DataSets

Analysis of embryonic stem cells without Hdh or with knock-in alleles with different Hdh CAG-polyglutamine repeat sizes. CAG-repeat length is inversely correlated with the age of onset of Huntington's disease (HD) symptoms in humans. Results provide insight into molecular mechanisms underlying HD.

Organism:

Mus musculus

Type:

Expression profiling by array, transformed count, 6 cell line, 3 genotype/variation, 7 other sets

Platform:

GPL1261

Series:

GSE26001

24 Samples

Download data: CEL

(Submitter supplied) Huntington's disease (HD) features a unique disease-initiating mechanism hypothesized to entail an impact of the CAG repeat encoded polyglutamine region on the full-length huntingtin protein, with dominant effects that are continuous with CAG size, in a simple gain of function. To evaluate these predictions, we generated a series of heterozygous Hdh CAG knock-in mouse embryonic stem (ES) cell lines, with 18, 48, 89, 109 CAGs, and found that a continuous analytic strategy efficiently identified, from genome-wide datasets, 73 genes and 172 pathways whose expression varied continuously with CAG length. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Dataset:

GDS4533

Platform:

GPL1261

24 Samples

Download data: CEL

(Submitter supplied) The polyglutamine expansion in huntingtin (Htt) protein is a cause of Huntington’s disease (HD). Htt is an essential gene as deletion of the mouse Htt gene homolog (Hdh) is embryonic lethal in mice. Therefore, in addition to elucidating the mechanisms responsible for polyQ-mediated pathology, it is also important to understand the normal function of Htt protein for both basic biology and for HD. To systematically search for a mouse Htt function, we took advantage of the Hdh +/- and Hdh-floxed mice and generated four mouse embryonic fibroblast (MEF) cells lines which contain a single copy of the Hdh gene (Hdh-HET) and four MEF lines in which the Hdh gene was deleted (Hdh-KO). more...

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL6731

12 Samples

Download data: TXT

(Submitter supplied) Affymetrix MG430 2.0 expression levels of wild-type (STHdhQ7/Q7), 3NP-treated wild-type (STHdhQ7/Q7+3-NP), and mutant (STHdhQ111/Q111) striatal cells Keywords: Pharmacological and genetic HD cell culture models

Organism:

Mus musculus

Type:

Expression profiling by array

Dataset:

GDS2911

Platform:

GPL1261

9 Samples

Download data: CEL

Comparison of striatal cells harboring a mutant huntingtin protein with 111 glutamines to wild type striatal cells treated with 3-nitropropionic acid (3-NP). The size of the polyglutamine tract in huntingtin is correlated with mitochondrial function. 3-NP is a respiratory chain inhibitor.

Organism:

Mus musculus

Type:

Expression profiling by array, transformed count, 2 agent, 2 genotype/variation sets

Platform:

GPL1261

Series:

GSE3583

9 Samples

Download data: CEL

(Submitter supplied) In Huntington’s disease (HD), expanded HTT CAG repeat length correlates strongly with age at motor onset, indicating that it determines the rate of the disease process leading to diagnostic clinical manifestations. Similarly, in normal individuals, HTT CAG repeat length is correlated with biochemical differences that reveal it as a functional polymorphism. Here, we tested the hypothesis that gene expression signatures can capture continuous, length-dependent effects of the HTT CAG repeat. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL570

227 Samples

Download data: CEL

(Submitter supplied) Huntington’s disease (HD) involves marked early neurodegeneration in the striatum whereas the cerebellum is relatively spared despite the ubiquitous expression of full-length mutant huntingtin, implying that inherent tissue-specific differences determine susceptibility to the HD CAG mutation. To understand this tissue specificity, we compared early mutant huntingtin-induced gene expression changes in striatum to those in cerebellum in young Hdh CAG knock-in mice, prior to onset of evident pathological alterations. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Dataset:

GDS3935

Platform:

GPL1261

24 Samples

Download data: CEL

Analysis of striatum and cerebellum of HdhQ111/Q111 CAG knock-ins (expressing full-length huntingtin with 111-glutamines) and wild-type HdhQ7/Q7 mice (expressing full-length huntingtin with 7-glutamines). Results provide insight into tissue-specific differences in susceptibility to HD CAG mutation.

Organism:

Mus musculus

Type:

Expression profiling by array, transformed count, 2 genotype/variation, 2 tissue sets

Platform:

GPL1261

Series:

GSE9038

24 Samples

Download data: CEL

(Submitter supplied) Huntington’s disease (HD), caused by a CAG repeat expansion in the huntingtin (HTT) gene, is characterized by abnormal protein aggregates and motor and cognitive dysfunction. Htt protein is ubiquitously expressed, but the striatal medium spiny neuron (MSN) is most susceptible to neuronal dysfunction and death. Abnormal gene expression represents a core pathogenic feature of HD, but the relative roles of cell-autonomous and non-cell-autonomous effects on transcription remain unclear. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL6885

7 Samples

Download data: TXT

(Submitter supplied) Identification of repeat-associated non-AUG (RAN) translation in trinucleotide (CAG) repeat diseases leads to an emerging concept that CAG repeat diseases are caused by non-polyglutamine products. Nonetheless, the exact contribution of RAN translation to the pathogenesis of CAG repeat diseases remains elusive. Via CRISPR/Cas9-mediated genome editing, we established new knock-in mouse models that harbor expanded CAG repeats in the mouse huntingtin gene, which express RAN translated products or polyglutamine products respectively. more...

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL24247

15 Samples

Download data: TXT