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

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

PROVIDER: PRJNA670694 | ENA |

REPOSITORIES: ENA

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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

2022-03-02 | GSE189121 | GEO

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

2022-03-02 | GSE159860 | GEO

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

2022-03-02 | GSE159859 | GEO

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

| PRJNA781586 | ENA

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

| PRJNA670693 | ENA

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

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

Pitt-Hopkins Syndrome.

Project description: Not available

| S-EPMC3366706 | biostudies-literature