Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [human]

ABSTRACT: Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [human]

PROVIDER: PRJNA529023 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR8785220.fastq.gz	Fastqsanger.gz
	SRR8785215.fastq.gz	Fastqsanger.gz
	SRR8785216.fastq.gz	Fastqsanger.gz
	SRR8785217.fastq.gz	Fastqsanger.gz
	SRR8785218.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 6

Similar Datasets

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug

Project description:Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug

| PRJNA529019 | ENA

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [human]

Project description:Williams syndrome (WS), caused by a heterozygous microdeletion in 7q11.23, is a neurodevelopmental disorder characterized by hypersociability and neurocognitive abnormalities. Of the deleted genes, general transcription factor II-i (Gtf2i) has been linked to hypersociability in WS, though the underlying mechanisms are poorly understood. We show that selective deletion of Gtf2i in forebrain excitatory neurons caused neuroanatomical defects, fine motor deficits, increased sociability and anxiety. Unexpectedly, 70% of the genes with significantly decreased mRNA levels in the mutant mouse cortex are involved in myelination, and mutant mice had reduced mature oligodendrocyte cell numbers, reduced myelin thickness and impaired axonal conductivity. Restoring myelination properties with clemastine or increasing axonal conductivity rescued the behavioural deficits. Frontal cortex from WS patients similarly showed reduced myelin thickness, mature oligodendrocyte cell numbers and mRNA levels of myelination-related genes. Our study provides molecular and cellular evidence for myelination deficits in WS linked to neuronal deletion of Gtf2i.

2019-03-26 | GSE128840 | GEO

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [mouse P30]

2019-03-26 | GSE128839 | GEO

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [mouse P1]

2019-03-26 | GSE128838 | GEO

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [mouse P1]

Project description:Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [mouse P1]

| PRJNA529020 | ENA

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [mouse P30]

Project description:Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug [mouse P30]

| PRJNA529021 | ENA

Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioural and myelin alterations rescuable by a remyelinating drug

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

2019-03-26 | GSE128841 | GEO

Gtf2i-encoded transcription factor Tfii-i regulates myelination

Project description:The transcriptional regulatory network governing the differentiation and functionality of oligodendrocytes is essential for the formation and maintenance of the myelin sheath, and hence for the proper function of the nervous system. Perturbations in the intricate interplay of transcriptional effectors within this network can lead to a variety of nervous system pathologies. In this study, we have identified Gtf2i-encoded general transcription factor II-I (Tfii-i) as a regulator of key myelination-related genes. To assess how Tfii-i absence from oligodendrocytes alters myelin properties on a molecular level, we compared the biochemically-enriched myelin fraction purified from brains of Gtf2i-KO and control mice by label-free quantitative mass spectrometry using the MSE-type data-independent acquisition (DIA) mode. We found an increased protein abundance of several key myelin proteins such as Mbp and Mog, while the abundance of Gpr37 was decreased, overall indicating a molecular hypermyelination phenotype in the absence of Tfii-i. These results, together with findings from - among others - structural, electrophysiological and behavioral approaches, show that Gtf2i deletion from myelinating glia cells in mice led to functional alterations in CNS myelin, which resulted in faster axonal conduction and improved motor coordination.

2025-07-14 | PXD054341 | Pride

Gtf2i-encoded transcription factor Tfii-i regulates myelination via Sox10 and Mbp regulatory elements

Project description:The transcriptional regulatory network governing the differentiation and functionality of oligodendrocytes is essential for the formation and maintenance of the myelin sheath, and hence for the proper function of the nervous system. Perturbations in the intricate interplay of transcriptional effectors within this network can lead to a variety of nervous system pathologies. In this study, we have identified Gtf2i-encoded general transcription factor II-I (Tfii-i), as a regulator of key myelination-related genes. Gtf2i deletion from myelinating glia cells in mice led to functional alterations in CNS myelin, including elevated mRNA and protein expression levels of the central myelin component Mbp, enhanced connectivity properties, and thicker myelin wrapping axons with increased diameters. These changes resulted in faster axonal conduction across the corpus callosum, and improved motor coordination. In the PNS, Gtf2i deletion from Schwann cells led to hypermyelination of the tibial branch of the sciatic nerve. Furthermore, we show that, in myelinating oligodendrocytes, Tfii-i directly binds to regulatory elements of Sox10 and Mbp. These findings add to our understanding of myelination regulation and specifically elucidate a cell-autonomous mechanism for Tfii-i in myelinating glia transcriptional network.

2025-07-10 | GSE285541 | GEO

Dissecting the evolving transcriptional landscape of the remyelinating spinal cord

Project description:Demyelination, or the loss of myelin in the central nervous system (CNS) is a hallmark of multiple sclerosis (MS) and occurs in various forms of CNS injury and neurodegenerative diseases. The replenishing of myelin, termed remyelination, also occurs spontaneously following demyelination. The lysolecithin-induced focal demyelination model enables the investigation into the mechanisms of spontaneous remyelination, providing insight into the molecular basis underlying an evolving remyelinating microenvironment. Here, we present a detailed analysis using high-resolution single-nucleus RNA sequencing to investigate gene expression dynamics across all cell types involved in the remyelination process. We examine three specific time points following focal demyelinating injury. By delineating activation states within the heterogeneous cell populations of demyelinated lesions, we highlight changes in gene expression within subclusters of each cell type from the early stages of injury response to the initiation and maintenance of remyelination. Our findings reveal how shifts in microglial, astrocytic and fibroblast activities within lesions are associated with efficient oligodendrocyte differentiation during remyelination.

2025-02-03 | GSE278643 | 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