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PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors

ABSTRACT: PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors

PROVIDER: PRJNA1178102 | ENA |

REPOSITORIES: ENA

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PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors

Project description:Enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles (ventriculomegaly) is a defining feature of congenital hydrocephalus (CH) and an underrecognized concomitant of autism. Here, we show that de novo mutations in the autism risk gene, PTEN, are among the most frequent monogenic causes of CH and primary ventriculomegaly. Mouse Pten-mutant ventriculomegaly results from aqueductal stenosis due to hyperproliferation of periventricular Nkx2.1+ neuroprogenitor cells (NPCs) and increased CSF production from hyperplastic choroid plexus. Pten-mutant ventriculomegalic cortices exhibit network dysfunction from increased activity of Nkx2.1+ NPC-derived inhibitory interneurons. Raptor deletion or post-natal everolimus treatment corrects ventriculomegaly, rescues cortical deficits, and increases survival by antagonizing mTORC1-dependent Nkx2.1+ NPC pathology. Thus, PTEN mutations concurrently alter CSF dynamics and cortical networks by dysregulating Nkx2.1+ NPCs. These results implicate a non-surgical treatment for CH, demonstrate a genetic association of ventriculomegaly and ASD, and help explain neurodevelopmental phenotypes refractory to CSF shunting in select CH patients.

2025-04-01 | GSE280368 | GEO

Pten cell autonomously regulates HSC mobilization and function via G-CSF independent mechanisms

Project description:gene expression in control, Pten deficient and G-CSF mobilized hematiopoietic stem cells HSCs isolated from control bone marrow, Pten deficient spleens and G-CSF treated spleens

2015-09-22 | E-GEOD-61655 | biostudies-arrayexpress

Pten cell autonomously regulates HSC mobilization and function via G-CSF independent mechanisms

Project description:gene expression in control, Pten deficient and G-CSF mobilized hematiopoietic stem cells

2015-09-22 | GSE61655 | GEO

CSF

Project description:CSF

| PRJEB14301 | ENA

Single-nucleus RNA sequencing of human periventricular white matter in vascular dementia [snRNA-Seq]

Project description:Single-nucleus RNA sequencing of human periventricular white matter comparing healthy age-matched controls with vascular dementia patients.

2024-12-06 | GSE282111 | GEO

Spatial Transcriptomics reveals brain regional gene expression profiles in murine model of Periventricular Heterotopia

Project description:Periventricular Heterotopia (PH) is a malformation of cerebral cortical development characterized by the presence of neurons along the wall of lateral ventricles. The most notable neurological symptoms are seizures that usually first appear when PH becomes evident during the teenage years. Heterozygous loss of function mutations within the FLNA gene in Xq28 are the most frequent cause of familial PH, while the genotype-phenotype correlation has not been well established. We generated a mouse model of PH by conditionally deleting Flna in neural progenitors along with a Flnb null mutation. In this mouse model, periventricular neurons are predominantly generated in postnatal ages. To understand the pathogenesis of PH and the mechanism of postnatal- adult neurogenesis, we assessed transcriptomic alterations resulting from Flna and Flnb double loss of function in the ventricular/subventricular zone (V-SVZ), upper cortical layers, and periventricular neurons, respectively. This dataset reveals spatially-dependent differential gene expressions between PH and their normal control counterparts at 3 months of age.

2024-03-04 | GSE256342 | GEO

BRG1 occupancy profiling by high throughput sequencing from control and PTEN knockdown 22RV-1 cells

Project description:To identify the downstream targets and pathways mediated by BRG1, chromatin immunoprecipitation followed by sequencing (ChIP–seq) was performed in control and PTEN-knockdown 22RV-1 cells. Total 6279 genes showed the enhanced BRG1 occupancies in PTEN-knockdown cells as compared to that in control cells. Genome-wide analysis revealed that PTEN loss lead to increase BRG1 intervals specifically localized at enhancers, but not distal promoter regions. We therefore reasoned ablation of BRG1 might impair enhancer configurations in PTEN-deficient cells.

2019-01-14 | GSE115615 | GEO

Transcriptomic analysis of age-associated periventricular lesions reveals dysregulation of the immune response

Project description:Age-associated Periventricular white matter lesions (PVL), reflecting white matter injury, are a common feature of the ageing brain. The aim of this study was to evaluate the transcriptomic profile of PVL using microarray analysis, in order to identify which pathways and/or gene expression changes may contribute to the pathogenesis of these lesions.

2020-11-18 | GSE157363 | GEO

Aging reduces liver resiliency by dysregulating Hedgehog signaling

Project description:Aging reduces liver resiliency by dysregulating Hedgehog signaling

| PRJNA753307 | ENA

Project description:GM-CSF receptor-β deficient (Csf2rb–/– or KO) mice develop a lung disease identical to hereditary pulmonary alveolar proteinosis (hPAP) in humans with recessive CSF2RA or CSF2RB mutations that impair GM-CSF receptor function. We performed pulmonary macrophage transplantation (PMT) of bone marrow derived macrophages (BMDMs) without myeloablation in Csf2rb–/–mice. BMDMs were administered by endotracheal instillation into 2 month-old Csf2rb–/– mice. Results demonstrated that PMT therapeutic of hPAP in Csf2rb–/– mice was highly efficacious and durable. Alveolar macrophages were isolated by bronchoalveolar lavage one year after administration subjected to microarray analysis to determine the effects of PMT therapy on the global gene expression profile.

2014-10-01 | GSE60528 | GEO

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