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Small molecule activation of a pseudoexon triggers huntingtin-lowering (AmpliSeq)

ABSTRACT: Small molecule activation of a pseudoexon triggers huntingtin-lowering (AmpliSeq)

PROVIDER: PRJNA683141 | ENA |

REPOSITORIES: ENA

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Small molecule activation of a pseudoexon triggers huntingtin-lowering

Project description:Small molecule activation of a pseudoexon triggers huntingtin-lowering

| PRJNA683073 | ENA

Small molecule activation of a pseudoexon triggers huntingtin-lowering (AmpliSeq)

Project description:Huntington’s disease (HD) is a hereditary neurodegenerative disorder caused by abnormal expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the huntingtin gene (HTT). The resultant mutant protein is ubiquitously expressed and drives pathogenesis of HD through a toxic gain-of-function mechanism. Animal models of HD have demonstrated that reducing huntingtin protein (HTT) levels alleviates HD-associated motor and neuropathological abnormalities, confirming the importance of huntingtin-lowering as a therapeutic approach. Several therapies in development repress HTT transcription or translation, including antisense oligonucleotides, virally-delivered microRNAs, and zinc finger protein transcription factors. However, they all require invasive procedures to reach the central nervous system (CNS) and do not distribute evenly to target areas in the brain. Systemically distributed therapeutics are needed to address the CNS and peripheral dysfunctions associated with HD. Here we report the discovery of small molecule splicing modifiers that lower HTT expression by selective modulation of pre-mRNA splicing. These compounds promote the inclusion of a pseudoexon containing a premature termination codon triggering HTT mRNA degradation and a reduction of HTT protein levels in vitro and in vivo. These orally bioavailable small molecules represent a non-invasive treatment option for HD and our findings support their continued development for the treatment of HD.

2021-07-01 | GSE162812 | GEO

Small molecule activation of a pseudoexon triggers huntingtin-lowering (RNA-Seq)

Project description:Small molecule activation of a pseudoexon triggers huntingtin-lowering (RNA-Seq)

| PRJNA683140 | ENA

Small molecule activation of a pseudoexon triggers huntingtin-lowering (RNA-Seq)

2021-07-01 | GSE162813 | GEO

Small molecule activation of a pseudoexon triggers huntingtin-lowering

Project description:This SuperSeries is composed of the SubSeries listed below.

2021-07-01 | GSE162814 | GEO

Neuronal and astrocytic contributions to Huntington’s disease dissected following mutant Huntingtin (mHTT) lowering

Project description:We used cell-specific zinc finger protein (ZFP) transcriptional repressors to lower mHTT and experimentally evaluated the consequences of neuronal and astrocytic mHTT lowering on HD pathophysiology using cell-type specific RNA-seq

2022-12-15 | GSE211891 | GEO

Astrocyte molecular signatures during Huntington’s disease progression and following huntingtin lowering with zinc finger protein transcriptional repressors

Project description:Astrocyte molecular signatures during Huntington’s disease progression and following huntingtin lowering with zinc finger protein transcriptional repressors

| PRJNA513983 | ENA

AmpliSeq transcriptome profiling of human adipose tissue senescent progenitor cells

Project description:Transcriptomic profile of human adipose tissue progenitor cells was performed as follows. For AmpliSeq transcriptome sequencing library construction, AmpliSeq™ Library PLUS, AmpliSeq Transcriptome Human Gene Expression Panel and AmpliSeq CD indexes SetA kits were purchased from Illumina and sequencing libraries were constructed as described in AmpliSeq for Illumina Transcriptome Human Gene Expression Panel reference guide (Illumina). Equimolar concentrations of libraries were pooled at 4 nM and denatured and diluted as described in Denature and Dilute Libraries Guide (Illumina) and adjusted to final concentration of 1.4 pM. Resulting library was sequenced on NextSeq 500 using NextSeq 500/550 High Output v2 kit with 2 X 151 bp cycle. Generated raw files were converted to FASTQ files and used for data analysis. AmpliSeq transcriptome FASTQ files were analyzed on Array studio V10.0 (Omicsoft, Qiagen). Following raw read QC, first and last 10 bases were trimmed and mapped to reference genome Human.B38. The read count data was generated using GeneModel RefGene20170606. Resulting data was normalized by DESeq package, transformed to log2 value and used for ANOVA analyses.

2023-01-12 | GSE222749 | GEO

Huntingtin Lowering Strategies.

Project description: Not available

| S-EPMC7139361 | biostudies-literature

Molecular phenotyping of a test compound (small-molecule neurotransmitter receptor antagonist) in primary human hepatocytes

Project description:Expression profiles of 917 pathway repoter genes were determined by AmpliSeq-RNA in primary human hepatocytes treated with Diclofenac and a test compound 3 hours after treatment. Vehicle control, diclofenac, and three doses of the test compound (small-molecule neurotransmitter receptor antagonist) were applied to three primary cell lines, with three biological replicates in each group. In some treatment groups read-outs were only available for two samples. All together 41 samples were profiled.

2015-07-01 | E-GEOD-64588 | biostudies-arrayexpress

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