Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Modeling the Neuropathology of Tuberous Sclerosis with Human Stem Cells Reveals a Role for Inflammation and Angiogenic Growth Factors

ABSTRACT: Modeling the Neuropathology of Tuberous Sclerosis with Human Stem Cells Reveals a Role for Inflammation and Angiogenic Growth Factors

PROVIDER: PRJNA314504 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR3208860.fastq.gz	Fastqsanger.gz
	SRR3208870.fastq.gz	Fastqsanger.gz
	SRR3208890.fastq.gz	Fastqsanger.gz
	SRR3208900.fastq.gz	Fastqsanger.gz
	SRR3208910.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 72

Similar Datasets

Modeling the Neuropathology of Tuberous Sclerosis with Human Stem Cells Reveals a Role for Inflammation and Angiogenic Growth Factors [Treatment]

Project description:Tuberous sclerosis complex (TSC) is a rare genetic disease characterized by mTOR hyperfunction induced benign tumor growths in multiple organs and neurological symptoms. Because the molecular pathology is highly complex and the etiology poorly understood we employed a defined human neuronal model with a single mTOR activating mutation to dissect the disease-relevant molecular responses driving the neuropathology. TSC2 deficient neural stem cells showed severely reduced neuronal functional maturation and characteristics of astrogliosis instead. Accordingly, transcriptome analysis uncovered an inflammatory response and increased metabolic activity, while ribosome profiling revealed excessive translation of ribosomal transcripts and higher synthesis rates of angiogenic growth factors. Treatment with mTOR inhibitors corrected translational alterations but not transcriptional dysfunction. These results extend our understanding of the molecular pathophysiology of TSC brain lesions, and suggest phenotype-tailored pharmacological treatment strategies. Rapamycin, AZD-8055, and DMSO were given to two TSC+/+ cell lines and two TSC-/- cell lines after six weeks of differentiation. Cells are harvested after 3 hours treatment and are subject to ribosome profiling and RNA-seq analysis.

2016-07-25 | E-GEOD-78960 | biostudies-arrayexpress

Modeling the Neuropathology of Tuberous Sclerosis with Human Stem Cells Reveals a Role for Inflammation and Angiogenic Growth Factors [Cell Model]

Project description:Tuberous sclerosis complex (TSC) is a rare genetic disease characterized by mTOR hyperfunction induced benign tumor growths in multiple organs and neurological symptoms. Because the molecular pathology is highly complex and the etiology poorly understood we employed a defined human neuronal model with a single mTOR activating mutation to dissect the disease-relevant molecular responses driving the neuropathology. TSC2 deficient neural stem cells showed severely reduced neuronal functional maturation and characteristics of astrogliosis instead. Accordingly, transcriptome analysis uncovered an inflammatory response and increased metabolic activity, while ribosome profiling revealed excessive translation of ribosomal transcripts and higher synthesis rates of angiogenic growth factors. Treatment with mTOR inhibitors corrected translational alterations but not transcriptional dysfunction. These results extend our understanding of the molecular pathophysiology of TSC brain lesions, and suggest phenotype-tailored pharmacological treatment strategies. Two TSC+/- cell lines and two TSC-/- cell lines were independently generated from wild-type human embryonic stem cells by genome editting with zinc finger nucleases. Two cell lines were handled in the same way but without any known human gene editted and they are used as negative controls. Two independent biological replicates of each of the six cell lines are profiled with ribosome profiling technique.

2016-07-25 | E-GEOD-78959 | biostudies-arrayexpress

Modeling the Neuropathology of Tuberous Sclerosis with Human Stem Cells Reveals a Role for Inflammation and Angiogenic Growth Factors [Treatment]

2016-07-25 | GSE78960 | GEO

Modeling the Neuropathology of Tuberous Sclerosis with Human Stem Cells Reveals a Role for Inflammation and Angiogenic Growth Factors [Cell Model]

2016-07-25 | GSE78959 | GEO

Chordoma associated with tuberous sclerosis complex (TSC)

Project description:Chordoma associated with tuberous sclerosis complex (TSC)

| PRJNA807369 | ENA

The Genomic Landscape of Tuberous Sclerosis Complex

Project description:The Genomic Landscape of Tuberous Sclerosis Complex

| PRJNA383009 | ENA

Modeling the Neuropathology of Tuberous Sclerosis with Human Stem Cells Reveals a Role for Inflammation and Angiogenic Growth Factors

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2016-07-25 | E-GEOD-78961 | biostudies-arrayexpress

Genetic analysis of Tuberous Sclerosis Complex (TSC) hypomelanotic macules

Project description:Genetic analysis of Tuberous Sclerosis Complex (TSC) hypomelanotic macules

| PRJNA352300 | ENA

Chordoma associated with tuberous sclerosis complex (TSC)

Project description:Chordoma associated with tuberous sclerosis complex (TSC) are an extremely rare tumor that was described only in 13 cases since 1975. Сhordomas themselves are malignant slow-growing bone tumors thought to arise from vestigial or ectopic notochordal tissue. In total, with CMA we found 180 regions with CNVs in the chordoma tumor sample. The longest section was 58,014 kbp long (arr[GRCh38] 9q21.31q34.3(79267492_137281464)x1-2), harboring region 9q34 that includes TSC1 gene. Also, 12 oncogenes including KRAS and CBX7 were in amplified regions and 92 tumor suppressor genes were in regions with loss status. Four genes that participate in epigenetic regulation, - ELP3, GTF3C4, MBD2, and PHF2 were found to be affected. Moreover, members of the APOBEC3 family were amplified.

2022-02-16 | GSE196823 | GEO

Modeling the Neuropathology of Tuberous Sclerosis with Human Stem Cells Reveals a Role for Inflammation and Angiogenic Growth Factors

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

2016-07-25 | GSE78961 | GEO