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Liver organoids generated from individuals carrying PiZZ variant of alpha-1-antitrypsin contain high lipid content

ABSTRACT: Liver organoids generated from individuals carrying PiZZ variant of alpha-1-antitrypsin contain high lipid content

PROVIDER: PRJNA910152 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR22576133_1.fastq.gz	Fastqsanger.gz
	SRR22576133_2.fastq.gz	Fastqsanger.gz
	SRR22576134_1.fastq.gz	Fastqsanger.gz
	SRR22576134_2.fastq.gz	Fastqsanger.gz
	SRR22576135_1.fastq.gz	Fastqsanger.gz

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Similar Datasets

Liver organoids generated from individuals carrying PiZZ variant of alpha-1-antitrypsin contain high lipid content

Project description:We generated hepatic organoids from MZ and ZZ patients with the aim to investigate their lipid status To discover genes related to lipid metabolism likely involved in lipid deposits.

2023-12-31 | GSE220537 | GEO

The Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study (GRADS) Alpha-1 study [A1AT]

Project description:Whole genome mRNA and microRNA profiling of bronchoalveolar lavage (BAL) and peripheral blood mononuclear cell (PBMC) in Alpha-1 Antitrypsin Deficiency patients with PiZZ or PiMZ alpha-1 antitrypsin genotypes

2020-11-03 | GSE109515 | GEO

Modeling of Alpha-1 Antitrypsin Deficiency with Syngeneic Human iPSC-Hepatocytes Reveals Metabolic Dysfunction and Cellular Heterogeneity in PiMZ and PiZZ Hepatic Cells (scRNA-Seq)

Project description:Individuals homozygous for the "Z" mutation in alpha-1 antitrypsin deficiency are known to be at increased risk for liver disease. It has also become clear that some degree of risk is similarly conferred by the heterozygous state. A lack of model systems that recapitulate heterozygosity in human hepatocytes has limited the ability to study the impact of a single Z alpha-1 antitrypsin (ZAAT) allele on hepatocyte biology. Here, we describe the derivation of syngeneic induced pluripotent stem cells (iPSCs) engineered to determine the effects of ZAAT heterozygosity in iPSC-hepatocytes (iHeps). We find that heterozygous MZ iHeps exhibit an intermediate disease phenotype and share with ZZ iHeps alterations in AAT protein processing and downstream perturbations including altered endoplasmic reticulum (ER) and mitochondrial morphology, reduced mitochondrial respiration, and branch-specific activation of the unfolded protein response in cell subpopulations. Our model of MZ heterozygosity thus provides evidence that a single Z allele is sufficient to disrupt hepatocyte homeostatic function.

2022-12-06 | GSE198234 | GEO

Modeling of Alpha-1 Antitrypsin Deficiency with Syngeneic Human iPSC-Hepatocytes Reveals Metabolic Dysfunction and Cellular Heterogeneity in PiMZ and PiZZ Hepatic Cells

Project description:Modeling of Alpha-1 Antitrypsin Deficiency with Syngeneic Human iPSC-Hepatocytes Reveals Metabolic Dysfunction and Cellular Heterogeneity in PiMZ and PiZZ Hepatic Cells

| PRJNA814251 | ENA

Transcriptomic analysis of human small intestinal organoids (hSIOs) from PiMM and PiZZ patients

Project description:Transcriptomic analysis was performed on human small intestinal organoids (hSIOs) generated from induced pluripotent stem cells (iPSCs) from PiMM and PiZZ patients. This analysis revealed that accumulation of mutant Z alpha1 antitripsin in intestinal cells induces activation of pathways related to stress, including protein processing in ER and immune response, while dowregulates the expression of genes related to cell cycle, DNA repair, and stemness.

2026-06-29 | GSE291018 | GEO

Comprehensive characterization of hepatic inflammatory changes in a mouse model of alpha-1 antitrypsin deficiency

Project description:In this study, we sought to thoroughly characterize the liver pathophysiology of a human transgenic mouse model for alpha-1 antitrypsin deficiency (AATD) with a strong manifestation of AATD-mediated liver disease. Male and female transgenic mice for normal variant human alpha-1 antitrypsin (Pi*M) and mutant human alpha-1 antitrypsin (Pi*Z) at 3 and 6 months of age with a C57BL/6J background were subjected to study. The progression of hepatic accumulation of mutant alpha-1 antitrypsin (ZAAT), hepatocyte injury, steatosis, liver inflammation and fibrotic features of this mouse model were monitored by performing an in vivo study.

2023-03-19 | GSE206619 | GEO

Modeling of Alpha-1 Antitrypsin Deficiency with Syngeneic Human iPSC-Hepatocytes Reveals Metabolic Dysfunction and Cellular Heterogeneity in PiMZ and PiZZ Hepatic Cells (scRNA-Seq)

Project description:Modeling of Alpha-1 Antitrypsin Deficiency with Syngeneic Human iPSC-Hepatocytes Reveals Metabolic Dysfunction and Cellular Heterogeneity in PiMZ and PiZZ Hepatic Cells (scRNA-Seq)

| PRJNA814257 | ENA

Project description: Not available

| S-EPMC9916468 | biostudies-literature

Modeling of Alpha-1 Antitrypsin Deficiency with Syngeneic Human iPSC-Hepatocytes Reveals Metabolic Dysfunction and Cellular Heterogeneity in PiMZ and PiZZ Hepatic Cells (bulk RNA-Seq)

| PRJNA814258 | ENA

Accumulation of mutant Z α1-Antitrypsin impairs intestinal function in mice

Project description:We found that accumulation of mutant Z α1-Antitrypsin in intestinal cells, and in particular in Paneth cells, induces activation of proteotoxic pathways leading to impaired intestinla homeostasis in PiZ mice.

2026-06-29 | GSE291017 | GEO

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