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

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

PROVIDER: PRJNA797369 | ENA |

REPOSITORIES: ENA

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

| PRJNA797374 | ENA

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

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

| PRJNA797375 | ENA

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

Project description:DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières Syndrome astrocytes [scRNA-Seq]

| PRJNA797376 | ENA

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

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

Project description:The contribution of the different CNS cell types to Aicardi-Goutiéres Syndrome pathogenesis is still unclear. With the aim to elucidate how oligodendrocytes, neurons and astrocytes impact AGS human phenotype we interrogate transcriptomes of the different cell populations performing single-cell RNA-Seq (scRNASeq). We compared cells deriving from AGS patient-derived iPSC harboring mutations in TREX1 (AGS1) or RNASEH2B (AGS2) to healthy donor control (WT) cells differentiated into mixed neuronal/glial cell populations.

2022-01-17 | GSE193710 | GEO

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

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

2022-01-17 | GSE193714 | GEO

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

Reverse transcriptase inhibitors in Aicardi-Goutières syndrome

Project description:Reverse transcriptase inhibitors in Aicardi-Goutières syndrome

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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

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