Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Human pluripotent stem cell-derived astrocyte model in fragile X syndrome

ABSTRACT: Human pluripotent stem cell-derived astrocyte model in fragile X syndrome

PROVIDER: PRJNA949601 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR23993328.fastq.gz	Fastqsanger.gz
	SRR23993329.fastq.gz	Fastqsanger.gz
	SRR23993330.fastq.gz	Fastqsanger.gz
	SRR23993331.fastq.gz	Fastqsanger.gz
	SRR23993332.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 30

Similar Datasets

Human pluripotent stem cell-derived astrocyte model in fragile X syndrome

Project description:The experiment was made to compare gene expression of human control (H1) ES-derived astrocytes and isogenic astrocytes carrying a mutation causing fragile x syndrome.

2023-07-21 | GSE228378 | GEO

Molecular Mechanisms Regulating the Defects in Fragile X Syndrome Neurons Derived from Human Pluripotent Stem Cells

Project description:Fragile X syndrome (FXS) is caused by the absence of the fragile X mental retardation protein (FMRP). We have previously generated FXS-induced pluripotent stem cells (iPSCs) from patients' fibroblasts. In this study, we aimed at unraveling the molecular phenotype of the disease. Our data revealed aberrant regulation of neural differentiation and axon guidance genes in FXS-derived neurons, which are regulated by the RE-1 silencing transcription factor (REST). Moreover, we found REST to be elevated in FXS-derived neurons. As FMRP is involved in the microRNA (miRNA) pathway we employed microRNA-array analyses and uncovered several miRNAs dysregulated in FXS-derived neurons. We found hsa-mir-382 to be down-regulated in FXS-derived neurons, and introduction of mimic-mir-382 into these neurons was sufficient to repress REST and up-regulate its axon guidance target genes. Our data link, FMRP and REST, through the miRNA pathway, and show a new aspect in the development of FXS. Affimetrix miRNA array of two WT and two fragile X syndrome derived neurons

2014-10-28 | E-GEOD-62721 | biostudies-arrayexpress

Molecular convergence between Down syndrome and Fragile X syndrome identified using human pluripotent stem cell models

Project description:The goal of this study was to define molecular overlap between Down syndrome and Fragile X syndrome using human pluripotent stem cells (hPSCs) and in vitro derived glutamatergic neurons.

2022-08-05 | GSE144857 | GEO

Molecular Mechanisms Regulating the Defects in Fragile X Syndrome Neurons Derived from Human Pluripotent Stem Cells

2014-10-28 | GSE62721 | GEO

Molecular convergence between Down syndrome and Fragile X syndrome identified using human pluripotent stem cell models

Project description:Molecular convergence between Down syndrome and Fragile X syndrome identified using human pluripotent stem cell models

| PRJNA605160 | ENA

Label-free Proteomic Analysis of an Astrocyte Model of SLO syndrome

Project description:This dataset contains raw proteomic data collected from the cell pellets and media from an astrocyte model of Smith-Lemli-Opitz Syndrome.

2022-11-08 | MSV000090664 | MassIVE

Integrative analysis identifies key molecular signatures underlying neurodevelopmental deficits in fragile X syndrome

Project description:Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by epigenetic silencing of FMR1 and loss of FMRP expression. Here we describe the establishment of an isogenic human pluripotent embryonic stem cell model of FXS. Using CRISPR/Cas9 to introduce indels in exon 3 of FMR1 and result in complete loss of FMRP (FMR1KO). We show that FMRP-deficient neurons exhibit a number of phenotypic abnormalities including neurite outgrowth and branching deficits and impaired electrophysiological network activity as measured by multi-electrode arrays. RNA-Seq analysis of FMRP-deficient neurons revealed transcriptional dysregulation in pathways related to neurodevelopment, neurotransmission, and the cell cycle

2020-06-09 | PXD011445 | Pride

Integrative analysis identifies key molecular signatures underlying neurodevelopmental deficits in fragile X syndrome

Project description:Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by epigenetic silencing of FMR1 and loss of FMRP expression. Here we describe the establishment of an isogenic human pluripotent embryonic stem cell model of FXS. Using CRISPR/Cas9 to introduce indels in exon 3 of FMR1 and result in complete loss of FMRP (FMR1KO). We show that FMRP-deficient neurons exhibit a number of phenotypic abnormalities including neurite outgrowth and branching deficits and impaired electrophysiological network activity as measured by multi-electrode arrays. RNA-Seq and proteome analysis of FMRP-deficient neurons revealed transcriptional dysregulation in pathways related to neurodevelopment, neurotransmission, and the cell cycle.

2020-06-18 | PXD011630 | Pride

Transcriptomic analysis of human iPS cells derived from fragile X syndrome patients during neural differentiation

Project description:Fragile X syndrome (FXS) is one of the most prevalent inherited intellectual disabilities. The patients carry the expansion of over 200 CGG repeats located at the 5′ untranslated region of fragile X mental retardation 1 (FMR1). As a result, the FMR1 promoter becomes hypermethylated leading to decreased or absent expression of its encoded RNA-binding protein fragile X mental retardation protein (FMRP). We previously generated human induced pluripotent stem (iPS) cells from fibroblasts of a FXS patient (FXS-iPSC) with expanded CGG-repeats at the FMR1 promoter. In the present work, we explored the transcriptional misregulation during the embryonic neurogenesis by in-vitro differentiation of FXS-iPSC into neurons through the intermediate stages. At each differentiation stage, we collected RNA and performed RNA-seq. After an integrated analysis, we found up-regulation of many genes encoding TFs for neuronal differentiation (WNT1, BMP4, POU3F4, TFAP2C, and PAX3), down-regulation of potassium channels (KCNA1, KCNC3, KCNG2, KCNIP4, KCNJ3, KCNK9, and KCNT1) and altered temporal regulation of SHANK1 and NNAT in FXS-iPSC derived neurons, indicating impaired neuronal differentiation and function in FXS patients. Furthermore, we found the cholesterol synthesis genes (e.g., SQLE, LSS, and FASN) are up-regulated during the in-vitro neuronal differentiation of FXS-iPSC, which may contribute to the obesity phenotype of FXS patients. In conclusion, we demonstrated that the FMRP deficiency in FXS patients has significant impact on the gene expression patterns during development, and also discovered many potential candidate genes for the cure of FXS symptoms such as neuronal abnormalities and obesity.

2016-03-04 | GSE76490 | GEO

Aberrant astrocyte protein secretion contributes to altered neuronal development in diverse disorders

Project description:Astrocytes negatively impact neuronal development in a range of neurodevelopmental disorders (NDs), however how they do this, and if mechanisms are shared across multiple disorders, is not known. We developed an in vitro system to ask how astrocyte protein secretion and gene expression change in 3 genetic NDs (Fragile X syndrome (FXS), Rett's syndrome (RTT), Down's syndrome (DS)). This identified disorder specific changes, as well as core proteins that are increased in release in all 3 NDs. We provide a resource of astrocyte secreted proteins and gene expression in health and NDs, as well as novel targets for intervention in diverse NDs.

2022-07-05 | GSE139285 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data