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Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome III

ABSTRACT: We evaluate cellular phenotypic abnormalities and alterations in molecular pathways due to mutations in the gene TCF4 in cells derived from Pitt-Hopkins patients, in comparison with respective controls (parents).

ORGANISM(S): Homo sapiens

PROVIDER: GSE159860 | GEO | 2022/03/02

REPOSITORIES: GEO

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Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome

Project description:We evaluate cellular phenotypic abnormalities and alterations in molecular pathways due to mutations in the gene TCF4 in cells derived from Pitt-Hopkins patients, in comparison with respective controls (parents).

2022-03-02 | GSE159392 | GEO

Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome IV

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Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome II

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Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome III

Project description:Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome III

| PRJNA670694 | ENA

Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome

Project description:Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome

| PRJNA668757 | ENA

Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome IV

Project description:Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome IV

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Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome II

Project description:Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome II

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GNPS - Pitt Hopkins

Project description:Data was collected on a LC-MS/MS system (c18 column) positive mode. Data from the children diagnosed with Pitt Hopkins disease and their healthy parents.

2019-01-23 | MSV000083357 | GNPS

Disordered breathing in Pitt Hopkins syndrome involves disruption of parafacial respiratory neurons and aberrant expression of Nav1.8.

Project description:Pitt-Hopkins syndrome (PTHS) is a rare autism spectrum-like disorder characterized by intellectual disability, developmental delays and breathing problems involving episodes of hyperventilation followed by apnea. PTHS is caused by functional haploinsufficiency of the gene encoding transcription factor 4 (Tcf4). Despite the severity of this disease, virtually nothing is known regarding mechanisms contributing to PTHS behavioral abnormalities, and candidate therapeutic targets are lacking. Here, we show that a Tcf4 truncation (Tcf4tr/+) mouse model of PTHS recapitulates respiratory phenotypes observed in PTHS patients. The basis of this behavior deficit involves selective loss of putative expiratory parafacial neurons and compromised function of neurons in the retrotrapezoid nucleus that regulate breathing in response to tissue CO2/H+. We also show that central Nav1.8 channels can be targeted pharmacologically to improve respiratory function at the cellular and behavioral levels in Tcf4tr/+ mice, thus establishing Nav1.8 as a high priority target with therapeutic potential in PTHS.

2021-09-02 | GSE174417 | GEO

Knockdown of the schizophrenia susceptibility gene TCF4 alters gene expression and proliferation of progenitor cells from the developing human neocortex.

Project description:BACKGROUND: Common variants in the TCF4 gene are among the most robustly supported genetic risk factors for schizophrenia. Rare TCF4 deletions and loss-of-function point mutations cause Pitt-Hopkins syndrome, a developmental disorder associated with severe intellectual disability. METHODS: In order to explore molecular and cellular mechanisms by which TCF4 perturbation could interfere with human cortical development, we experimentally reduced the endogenous expression of TCF4 in a neural progenitor cell line derived from the developing human cerebral cortex using RNA interference. Effects on genome-wide gene expression were assessed by microarray, followed by Gene Ontology and pathway analysis of differentially expressed genes. Effects on cell proliferation were assessed using high content imaging. RESULTS: Genes that were differentially expressed following TCF4 knockdown were highly enriched for involvement in the cell cycle. Consistent with the gene expression data, TCF4 knockdown was associated with reduced proliferation of cortical progenitor cells in vitro. CONCLUSIONS: Our data indicate effects of TCF4 perturbation on human cortical progenitor cell proliferation, a process that could contribute to cognitive deficits in Pitt-Hopkins Syndrome and risk for schizophrenia.

2016-10-01 | GSE62085 | GEO

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