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TranscriptomicsElucidating a normal function of huntingtin by analysis of huntingtin-null mouse embryonic fibroblasts
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 i...
ORGANISM(S): Mus musculus 
2008-04-12 | E-GEOD-11139 | biostudies-arrayexpress
GenomicsMutant Huntingtin promotes neuronal death through cell autonomous microglial activation via myeloid lineage- determining factors
Huntington's Disease (HD) is a fatal neurodegenerative disorder caused by an extended polyglutamine repeat in the N-terminus of the huntingtin (Htt) protein. Reactive microglia and elevated cytokine levels are observed in the brains of HD patients, but the extent to which neuroinflammation results f...
ORGANISM(S): Mus musculus 
2014-03-02 | E-GEOD-54443 | biostudies-arrayexpress
TranscriptomicsDiscovery of novel isoforms of Huntingtin reveals a new hominid-specific exon
Huntington’s disease (HD) is a devastating neurological disorder that is caused by an expansion of the poly-Q tract in exon 1 of the Huntingtin gene (HTT). HTT is an evolutionarily conserved and ubiquitously expressed protein that has been linked to a variety of functions including transcriptional r...
ORGANISM(S): Homo sapiens 
2015-06-10 | E-GEOD-66769 | biostudies-arrayexpress
ProteomicsHuntingtin interactome in human striatal neurons derived from iPSCs upon the induction of double strand break (DSB) DNA damage response
Huntington’s Disease (HD), a progressive neurodegenerative disorder with no disease-modifying therapies, is caused by a CAG repeat expansion in the HD gene encoding polyglutamine-expanded huntingtin (HTT) protein. Mechanisms of HD cellular pathogenesis and cellular functions of the normal and mutan...
ORGANISM(S): Homo sapiens (Human) 
2026-03-16 | PXD059660 | Pride
Huntington’s disease Protein interactions Huntingtin Dna damage Neurodegeneration 
GenomicsExtensive changes in DNA methylation are associated with expression of mutant huntingtin [MeDIP-seq]
The earliest stages of Huntington’s disease are marked by changes in gene expression that are caused in an indirect and poorly understood manner by polyglutamine expansions in the huntingtin protein (HTT). To explore the hypothesis DNA methylation may be altered in cells expressing mutated HTT, we ...
ORGANISM(S): Mus musculus 
2013-01-24 | E-GEOD-43430 | biostudies-arrayexpress
TranscriptomicsContinuous analysis captures cellular states that reflect dominant effects of the HTT CAG repeat in human lymphoblastoid cell lines.
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 biochemica...
ORGANISM(S): Homo sapiens 
2013-05-03 | E-GEOD-34721 | biostudies-arrayexpress
ProteomicsHTT-OMNI: A Web-based Platform for Huntingtin Interaction Exploration and Multi-omics Data Integration
We have developed a web-based platform for HTT PPI visualization, exploration, and multi-omic integration called HTT-OMNI. We demonstrate the utility of this platform not only for exploring and filtering existing huntingtin (HTT) PPIs, but also for investigating user-generated omics datasets. For ex...
ORGANISM(S): Mus musculus (Mouse) 
2022-08-15 | PXD034158 | Pride
Computational tool Huntington's disease Ip-ms Protein interactions 
GenomicsExtensive changes in DNA methylation are associated with expression of mutant huntingtin [RRBS]
The earliest stages of Huntington’s disease are marked by changes in gene expression that are caused in an indirect and poorly understood manner by polyglutamine expansions in the huntingtin protein (HTT). To explore the hypothesis DNA methylation may be altered in cells expressing mutated HTT, we ...
ORGANISM(S): Mus musculus 
2013-01-24 | E-GEOD-43432 | biostudies-arrayexpress
ProteomicsPTMs of HTT protein - Post-translational modifications (PTMs), identified on endogenous huntingtin, cluster within proteolytic domains between HEAT repeats
Post-translational modifications (PTMs) of proteins regulate various cellular processes. PTMs of polyglutamine-expanded huntingtin (Htt) protein, causative of Huntington’s disease (HD), are likely modulators of HD pathogenesis. Previous studies have identified and characterized several PTMs on exo...
ORGANISM(S): Homo sapiens (Human) Mus musculus (Mouse) 
2017-06-29 | PXD005753 | Pride
Huntingtin Hd Human and mouse brain 
TranscriptomicsExtensive changes in DNA methylation are associated with expression of mutant huntingtin [mRNA-seq]
The earliest stages of Huntington’s disease are marked by changes in gene expression that are caused in an indirect and poorly understood manner by polyglutamine expansions in the huntingtin protein (HTT). To explore the hypothesis DNA methylation may be altered in cells expressing mutated HTT, we ...
ORGANISM(S): Mus musculus 
2013-01-24 | E-GEOD-43431 | biostudies-arrayexpress
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