Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA262959 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Autosomal recessive PGM3 mutations cause a new Congenital Disorder of Glycosylation
| PRJNA262960 | ENA
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Project description:Autosomal recessive TPPII mutations cause a new human immunodeficiency
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Project description:<p>To define a genetic syndrome of severe atopy, elevated serum IgE, immune deficiency, autoimmunity, and motor and neurocognitive impairment, eight patients from two families who had similar syndromic features were studied. Whole exome sequencing was performed to identify disease-causing mutations. A disease segregated with a novel autosomal recessive mutations in a single gene, phosphoglucomutase 3 (PGM3). The result defines a new Congenital Disorder of Glycosylation.</p>
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Project description:Liver tissue from Vps33b liver ko (Vps33bfl/fl-AlfpCre) mice is a model of liver disease associated with ARC syndrome, an autosomal recessive inherited metabolic disorder cause by mutations in VPS33B or VIPAS39. ARC is a multisystem disorder, with liver and kidneys affected in particular. Defects in hepatocyte polarity have been identified. Affymetrix arrays were used to characterise the changes in the liver transcriptome when Vps33b is not expressed. Mouse liver tissue, 10 samples in total, 4 from control mice, 6 from ko mice.
2016-06-10 | E-GEOD-83192 | biostudies-arrayexpress
Project description:Susceptibility to respiratory infections due to autosomal recessive IFIH1 mutations
| PRJNA351275 | ENA
Project description:Liver tissue from Vps33b liver ko (Vps33bfl/fl-AlfpCre) mice is a model of liver disease associated with ARC syndrome, an autosomal recessive inherited metabolic disorder cause by mutations in VPS33B or VIPAS39. ARC is a multisystem disorder, with liver and kidneys affected in particular. Defects in hepatocyte polarity have been identified. Affymetrix arrays were used to characterise the changes in the liver transcriptome when Vps33b is not expressed.
2016-06-10 | GSE83192 | GEO
Project description:Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown. To investigate the function of TANGO2, we knocked out the TANGO2 gene in human cells and mice. We identify that loss of TANGO2 impairs intermediate filament structure, resulting in fragmented mitochondrial networks and formation of cup-like mitochondria. In mice loss of TANGO2 caused heart defects, reduced muscle function and hypoglycemia that were caused by remodelling of intermediate filaments, resulting in changes in the mitochondrial and cytoplasmic proteomes and glycosylation. We identify that TANGO2 binds the small heat shock protein crystallin alpha B (CRYAB) to prevent the aggregation of the intermediate filament desmin and in the absence of TANGO2, mice develop desminopathy, which is consistent with features found in patients carrying mutations either in desmin or CRYAB.
2025-04-21 | GSE276499 | GEO
Project description:Mouse IMCD3 cell lines knocked-down for VPS33B, VIPAR and PLOD3 are used as models of ARC syndrome, an autosomal recessive disorder cause by mutations in VPS33B or VIPAR. Previous work has shown that ARC syndrome causes epithelial cell polarisation defectes and mislocalisation of membrane proteins, so polarised IMCD3 cells were used as an experimental model. Affymetrix arrays were used to characterise the changes to the transcriptome when protein levels of VPS33B, VIPAR and PLOD3 are reduced. mouse IMCD-3 cell lines, 15 samples in total, three biological repeats of each of: wild type, control shRNA, VPS33B shRNA, VIPAR shRNA, PLOD3 shRNA
2016-05-13 | E-GEOD-81376 | biostudies-arrayexpress
Project description:Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown. To investigate the function of TANGO2, we knocked out the TANGO2 gene in human cells and mice. We identify that loss of TANGO2 impairs intermediate filament structure, resulting in fragmented mitochondrial networks and formation of cup-like mitochondria. In mice loss of TANGO2 caused heart defects, reduced muscle function and hypoglycemia that were caused by remodelling of intermediate filaments, resulting in changes in the mitochondrial and cytoplasmic proteomes and glycosylation. We identify that TANGO2 binds the small heat shock protein crystallin alpha B (CRYAB) to prevent the aggregation of the intermediate filament desmin and in the absence of TANGO2, mice develop desminopathy, which is consistent with features found in patients carrying mutations either in desmin or CRYAB.
2025-04-22 | PXD056037 | Pride