Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Effect of knockout of and pathogenic mutations in Hnrnph2 on gene expression in mouse cortex

ABSTRACT: To investigate the effect of knockout of and pathogenic mutatations in Hnrnph2, we generated mouse lines in which endogenous Hnrnph2 has been knocked out, or 2 pathogenic mutations (R206W, P209L) have been knocked into the endogenous Hnrnph2 using CRISPR Cas-9.

ORGANISM(S): Mus musculus

PROVIDER: GSE226526 | GEO | 2023/07/19

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Effect of knockout of and pathogenic mutations in HNRNPH2 on gene expression in human iPSC-derived neurons

Project description:To investigate the effect of knockout of and pathogenic mutatations in HNRNPH2, we generated human iPSC lines in which endogenous HNRNPH2 has been knocked out, or 3 pathogenic mutations (R206W, R206Q, and P209L) have been knocked into the endogenous HNRNPH2 using CRISPR Cas-9.

2023-07-19 | GSE226525 | GEO

Effect of knockout of and pathogenic mutations in Hnrnph2 on gene expression in mouse cortex

Project description:Effect of knockout of and pathogenic mutations in Hnrnph2 on gene expression in mouse cortex

| PRJNA940478 | ENA

Effect of knockout of and pathogenic mutations in HNRNPH2 on gene expression in human and mouse

Project description:Effect of knockout of and pathogenic mutations in HNRNPH2 on gene expression in human and mouse

| PRJNA940476 | ENA

Effect of knockout of and pathogenic mutations in HNRNPH2 on gene expression in human iPSC-derived neurons

Project description:Effect of knockout of and pathogenic mutations in HNRNPH2 on gene expression in human iPSC-derived neurons

| PRJNA940479 | ENA

Preclinical evaluation of antisense oligonucleotide therapy in a mouse model of HNRNPH2-related neurodevelopmental disorder

Project description:Mutations in HNRNPH2 are associated with an X-linked disorder characterized by developmental delay, intellectual disability, motor and gait disturbances, and seizures. Murine models that reproduce key clinical features of HNRNPH2-related neurodevelopmental disorder suggest that it may result from a toxic gain of function of the mutant protein or a complex loss of normal HNRNPH2 function with impaired compensation by its homolog, HNRNPH1. In this study, we tested gapmer antisense oligonucleotides (ASOs) that target murine Hnrnph2 in a non-allele-specific manner. The lead ASO reduced Hnrnph2 mRNA and protein levels while inducing compensatory upregulation of Hnrnph1 in both WT and Hnrnph2 mutant mouse brains. A single intracerebroventricular injection of the Hnrnph2 ASO into neonatal mutant Hnrnph2 mice rescued molecular and audiogenic seizure phenotypes and improved motor and cognitive functions. ASO treatment at the juvenile stage also rescued audiogenic seizures and motor deficits. In contrast, Hnrnph2 ASO administration did not improve survival, body weight, or hydrocephalus. In human iPSC-derived neurons, a human-specific HNRNPH2 research ASO reduced HNRNPH2 and upregulated HNRNPH1 mRNA levels.

2025-11-17 | GSE310115 | GEO

HNRNPH2 variant linked to intellectual disability disrupts myelination by impairing oligodendrocyte differentiation

Project description:Mutations in heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2) lead to an X-linked neurodevelopmental disorders (NDDs) characterized by abnormal brain development and cognitive impairments. However, the underlying cellular and molecular mechanisms remain poorly understood. Here, we report that mice carrying the homologous P213L point mutation exhibit cognitive deficits and behavioral abnormalities resembling intellectual disability (ID). Notably, Hnrnph2P213L mice exhibit significant myelination defects, primarily due to impaired differentiation of oligodendrocyte progenitor cells. Mechanistically, the P213L mutation downregulates myelination-related genes by disrupting the interaction between hnRNPH2 and its target transcripts. Moreover, the myelin-enhancing drug benztropine rescues myelination, restores myelin-related gene expression and ameliorates cognitive deficits, highlighting the role of hnRNPH2 P213L-induced myelin abnormalities in the pathogenesis of ID. This study uncovers a crucial mechanistic link between myelin dysfunction and ID, providing potentially therapeutic ways for X-linked NDDs.

2026-01-01 | GSE313803 | GEO

Effect of knockout of and pathogenic mutations in HNRNPH2 on gene expression in human and mouse

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

2023-07-19 | GSE226527 | GEO

Pathogenic mtDNA mutations inhibit melanoma metastasis

Project description:Pathogenic mtDNA mutations inhibit melanoma metastasis

| PRJNA1154298 | ENA

Pathogenic mtDNA mutations inhibit melanoma metastasis

Project description:We report the transcriptome profiles of A375 melanoma tumors containing distinct mtDNA mutations. This study was performed using subcutaneous tumors implanted into NSG mice, and identifies transcriptomice changes in response to pathogenic mtDNA mutations.

2024-10-25 | GSE276027 | GEO

HNRNPH2 variant linked to intellectual disability disrupts myelination by impairing oligodendrocyte differentiation

Project description:HNRNPH2 variant linked to intellectual disability disrupts myelination by impairing oligodendrocyte differentiation

| PRJNA1381609 | ENA