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Reverse transcriptase inhibitors in Aicardi-Goutières syndrome

ABSTRACT: Reverse transcriptase inhibitors in Aicardi-Goutières syndrome

PROVIDER: PRJEB27958 | ENA |

REPOSITORIES: ENA

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Reverse transcriptase inhibitors in Aicardi-Goutières syndrome

Project description:Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous encephalopathy whose pathology is linked to an abnormal type I interferon response induced by self-derived nucleic acids. Data indicate that endogenous retroelements represent one source of interferon-stimulatory self-nucleic acid. No effective therapies are available for this disorder. In this pilot study involving patients with AGS due to mutations in TREX1, RNASEH2A, RNASEH2B or SAMHD1 three nucleoside analogue reverse transcriptase inhibitors (RTIs) were administered over 12 months. Transcription profiling was done by RNA-seq.

2018-12-12 | E-MTAB-7087 | biostudies-arrayexpress

Bulk RNAseq of post-mortem brain tissue of Aicardi-Goutières Syndrome patients and non-diseased controls

Project description:Post mortem brain tissue of three Patients suffering from Aicardi-Goutières Syndrome from different brain regions was used to isolate RNA and perform RNAseq analysis compared to age matched control patients with no underlying brain pathology.

2023-12-01 | GSE162414 | GEO

Reverse Transcriptase Inhibition Disrupts Repeat Element Life Cycle in Colorectal Cancer

Project description:Colorectal cancer aberrant repeat RNA expression can be therapeutically targeted with reverse transcriptase inhibitors.

2022-03-26 | GSE199097 | GEO

DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières Syndrome astrocytes [RNA-Seq]

Project description:We generated iPS cells knock out (KO) for two Aicardi Goutières syndrome genes, TREX1 and RNASEH2b to model the disease in a human neurological context. Their transcriptomes were analyzed at several differentiation stages: iPSC-derived Neural Stem Cells, iPSC-derived proinflammatory astrocytes and iPSC-derived neurons. We then evaluated when and to which extent the AGS-related transcriptional alterations arised in all KO and WT cells.

2022-01-17 | GSE193711 | GEO

DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières Syndrome astrocytes [DNA-Seq]

Project description:We generated iPS cells knock out (KO) for two Aicardi Goutières syndrome genes, TREX1 and RNASEH2b to model the disease in a human neurological context. However, it has been reported that after precise genome engineering human iPSCs may show severe alterations of the p53 gene. With the aim to evaluate the genome engeneering impact on the p53 pathway in the CRISPR-CAS9 knock out clones we verified integrity of the p53 genome sequence after gene editing.

2022-01-17 | GSE193712 | GEO

E-MTAB-7087

Project description:Reverse transcriptase inhibitors in Aicardi-Gouti�res syndrome

2019-09-09 | E-MTAB-7087 | ExpressionAtlas

DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières Syndrome astrocytes

Project description:DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières Syndrome astrocytes

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Mass spectrum for identifying the interacting proteins of telomerase reverse transcriptase

Project description:The 293T cells overexpressing human telomerase reverse transcriptase (hTERT) were lysed and co-immunoprecipitation was performed using hTERT antibody. Then protein mass spectrum was conducted in order to identify the hTERT-interacting proteins.

2024-01-26 | PXD048859 | Pride

Sequencing of Echinococcus multilocularis telomerase reverse transcriptase gene

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Evolution of a Reverse Transcriptase to Map N1-Methyladenosine in Human mRNA

Project description:Chemical modifications on mRNA are increasingly recognized as a critical regulatory layer of the flow of genetic information, but quantitative tools to monitor RNA modifications in a whole-transcriptome and site-specific manner are lacking. Here we describe a versatile directed evolution platform that rapidly selects for reverse transcriptases that install mutations during reverse transcription at sites of a given type of RNA modification, allowing for site-specific identification of the modification. To develop and validate the platform, we evolved the HIV-1 reverse transcriptase against N1-methyladenosine (m1A). Iterative rounds of selection yielded reverse transcriptases with both robust read-through and high mutation rates at m1A sites. We apply the evolved reverse transcriptase to identify thousands of statistically confident m1A sites in human mRNA, some of which can be detected in antibody-free RNA-seq libraries. Together, this work develops and validates the reverse transcriptase evolution platform and provides new tools, analysis methods, and datasets to study m1A biology.

2019-09-24 | GSE123365 | GEO

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