Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Mechanisms of IRF2BPL-related Disorders and Identification of a Potential Therapeutic Strategy

ABSTRACT: Mechanisms of IRF2BPL-related Disorders and Identification of a Potential Therapeutic Strategy

PROVIDER: PRJNA784981 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR17077900_1.fastq.gz	Fastqsanger.gz
	SRR17077900_2.fastq.gz	Fastqsanger.gz
	SRR17077901_1.fastq.gz	Fastqsanger.gz
	SRR17077901_2.fastq.gz	Fastqsanger.gz
	SRR17077902_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 192

Similar Datasets

Mechanisms of IRF2BPL-related Disorders and Identification of a Potential Therapeutic Strategy

Project description:NEDAMSS is a recently discovered neurological disorder caused by heterozygous truncations in the intron-less transcriptional regulator, IRF2BPL. Here, we reprogram patient skin fibroblasts to astrocytes and neurons to study mechanisms of this newly described disease. While full-length wild-type IRF2BPL is primarily localized to the nucleus, we find that truncated patient variants sequester the wild-type protein to the cytoplasm and cause aggregation. Moreover, patient astrocytes fail to support neuronal survival in co-culture assays and exhibit aberrant mitochondria and respiratory dysfunction. Treatment with small molecule Copper ATSM rescues neuronal survival and restores mitochondrial function. Importantly, the in vitro findings are recapitulated in vivo, where co-expression of full-length and truncated IRF2BPL in Drosophila results in cytoplasmic accumulation of full-length IRF2BPL. Moreover, flies harboring heterozygous truncations of the IRF2BPL ortholog (Pits) display progressive motor defects that are ameliorated by CuATSM treatment. Our findings provide insights into mechanisms involved in NEDAMSS and reveal a promising treatment for this severe disorder.

2022-12-14 | GSE189909 | GEO

Whole Genome Sequencing Reveals Potential Therapeutic Strategy for Monomorphic Epitheliotropic Intestinal T-cell Lymphoma

Project description:Whole Genome Sequencing Reveals Potential Therapeutic Strategy for Monomorphic Epitheliotropic Intestinal T-cell Lymphoma

| EGAS00001003876 | EGA

Targeting low levels of MIF expression as a potential therapeutic strategy for ALS

Project description:Targeting low levels of MIF expression as a potential therapeutic strategy for ALS

| PRJNA1032865 | ENA

Treatment of neurologic disorders by brain-wide microglia replacement using a non-conditioning strategy

Project description:Genetic evidence indicates that microglial dysfunctions contribute to the development and progression of various neurologic diseases, emphasizing microglia replacement as a promising therapeutic strategy. However, traditional bone marrow transplantation (BMT) aimed at replenishing brain microglia faces challenges due to low efficiency and potential brain injury from preconditioning with irradiation or chemotherapy. Moreover, the BM-derived cells that migrate to the brain fail to replicate the characteristics of resident microglia. Here, we present a simple yet highly effective microglia transplantation strategy devoid of any conditioning, termed "Tri-Cyclic Microglial Depletion for Transplantation" (TCMDT). This approach leverages three cycles of microglial depletion using the CSF1R inhibitor PLX3397, creating a critical window for the efficient engraftment of exogenous microglia. Notably, transplanting primary cultured microglia via the TCMDT strategy achieves their full restoration to the identity and functions of native microglia. To evaluate the therapeutic potential, we applied our strategy to a Sandhoff disease mouse model, a form of neurodegenerative lysosomal storage disorder (LSD) caused by Hexb deficiency. The results revealed that our strategy facilitated the efficient replacement of deficient microglia, leading to a notable decrease in neurodegeneration and an enhancement in motor performance. Similarly, in an Alzheimer's disease (AD) mouse model carrying the Trem2 R47H mutation, our transplantation strategy corrected microglial dysfunction and alleviated AD-related pathology. Overall, our study presents a practical approach for microglia replacement that is simple, efficient, and safe, offering significant therapeutic potential for treating microglia-associated disorders.

2025-03-06 | GSE272257 | GEO

Exploring the Effect and Mechanisms of Telomerase Inhibition as A Novel Therapeutic Strategy for Glioma

Project description:The obejctive of this study is to establish the therapeutic role of 6-thio-dG for gliomas in vitro and in vivo and to elucidate the anti-tumor mechanisms of 6-thio-dG in glioma cells. And the ultimate goal of this proposal is to demonstrate the potential of 6-thio-dG as a novel strategy for primary and recurrent glioma.

2021-09-13 | GSE160619 | GEO

Therapeutic Endoscopic Ultrasound for Gastrointestinal Disorders: A Multicenter Registry Study

Project description:The purpose of this retrospective chart-review registry study is to evaluate the safety profile, efficacy profile and cost-effectiveness of the various therapeutic endoscopic ultrasound (EUS) procedures (for benign and malignant gastrointestinal disorders). 1. To assess the clinical and technical success rates of EUS-Guided interventions 2. To document the impact of therapeutic EUS procedures on the management of gastrointestinal disorders including malignancies through cost effective analyses. 3. Compare endoscopic interventions to non-endoscopic interventions for the same clinical indications and evaluate safety and efficacy.

| 2390184 | ecrin-mdr-crc

Wnt activation as a therapeutic strategy in medulloblastoma

Project description:Wnt activation as a therapeutic strategy in medulloblastoma

| PRJNA543788 | ENA

Chemo-senolytic therapeutic potential against angiosarcoma

Project description:Chemo-senolytic therapeutic potential against angiosarcoma

| PRJNA1030406 | ENA

Therapeutic potential of human microglial transplantation in a chimeric model of CSF1R-related leukoencephalopathy

Project description:Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, autosomal dominant primary microgliopathy caused by mutations in colony-stimulating factor 1 receptor (CSF1R). CSF1R signaling is necessary for microglial differentiation and survival. As a result, ALSP patient brains have fewer microglia and exhibit an array of neuropathologies including axonal spheroids, white matter abnormalities, reactive astrocytosis, and brain calcification. To explore the therapeutic potential of transplanting healthy human microglia, we generated ‘hFIRE’ mice, a xenotolerant mouse model of ALSP that lacks murine microglia. Remarkably, transplantation of induced pluripotent stem cell (iPSC)-derived microglial progenitors enabled rapid CNS-wide microglial engraftment, restoring a homeostatic microglial gene signature and preventing diverse ALSP-related neuropathologies. To further examine a potential autologous approach, ALSP-patient derived iPSCs were CRISPR-corrected, rescuing mutation-induced deficits in microglial proliferation, enabling brain-wide microglial engraftment, and reducing pre-existing spheroid, astroglial, and calcification pathologies within just 6 weeks. Together with the accompanying study by Munro and Colleagues, these results demonstrate the utility of FIRE mice to model diverse ALSP neuropathologies and provide initial evidence that iPSC-microglia could be further developed as a promising new therapeutic strategy for ALSP and perhaps other microglia-associated neurological disorders.

2024-04-24 | GSE253623 | GEO

Exploring the Effect and Mechanisms of Telomerase Inhibition as A Novel Therapeutic Strategy for Glioma [2224, DBTGR-05MG, A172]

2021-09-13 | GSE180874 | GEO