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ProteomicsProteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers
Background: Glycogen Storage Disease (GSD) Type Ia and Ib are rare metabolic diseases caused by gene variants in G6PC and SLC37A4 respectively. Patients often suffer from multiple metabolic abnormalities and severe long-term complications. Methods: In this study, we employed comprehensive untargete...
ORGANISM(S): Homo sapiens (Human) 
2026-03-06 | PXD066805 | Pride
Human Liver Gsd i Serum/plasma 
ProteomicsUntargeted proteomics profiling of liver and plasma in fed and fasted Glycogen Storage Disease type Ia (GSD Ia) mice: towards pathophysiological mechanisms and potential protein biomarkers for hepatic GSD Ia
Glycogen storage disease type Ia (GSD Ia) is a rare autosomal recessive disorder caused by a deficiency in glucose 6-phosphatase-α (G6PC). Patients primarily suffer from failure to thrive, hepatomegaly and severe fasting intolerance, biochemically characterized by hypoketotic and hyperlipidemia. Sin...
ORGANISM(S): Mus musculus (Mouse) 
2026-03-16 | PXD054398 | Pride
Proteomics Plasma Liver Gsd ia Biomarkers 
ProteomicsHepatocyte-specific Cas9-mediated editing of G6pc and Slc37a4 elicits comparable biochemical and regulatory responses between glycogen storage disease (GSD) type Ia and Ib mice
Glycogen storage disease type I (GSD I) is an autosomal recessive inborn error of carbohydrate metabolism. Patients with GSD type Ia and Ib exhibit overlapping and distinct symptoms and complications. Notably, GSD Ia patients show more severe hypertriglyceridemia and higher risk of hepatic tumors th...
ORGANISM(S): Mus musculus (Mouse) 
2026-07-02 | PXD066807 | Pride
Mouse Proteomics Liver Gsd i 
TranscriptomicsReduced expression of Semaphorin3A derived from osteoclasts cause lymphatic expansion in GSD mouse model
Gorham-Stout disease (GSD) is a sporadic chronic disease characterized by progressive bone dissolution, absorption, disappearance, and lymphatic vessel infiltration in bone marrow cavities. Although the osteolytic mechanism of GSD has been widely studied, the cause of lymphatic hyperplasia of GSD is...
ORGANISM(S): Mus musculus 
2026-04-01 | GSE229371 | GEO
GenomicsReduced expression of Semaphorin3A derived from osteoclasts cause lymphatic expansion in GSD mouse model
Reduced expression of Semaphorin3A derived from osteoclasts cause lymphatic expansion in GSD mouse model
PRJNA954287 | ENA
TranscriptomicsTranscription profiling of XX and XY sorted mouse somatic support cells and XX and XY mouse whole gonads to identify potential new mammalian gonadal sex determining genes.
Gonadal sex determining (GSD) genes that initiate fetal ovarian and testicular development and differentiation are expressed in the cells of the urogenital ridge that differentiate as somatic support cells (SSCs), i.e., granulosa cells of the ovary and Sertoli cells of the testis. To identify potent...
ORGANISM(S): Mus musculus 
2007-11-30 | E-GEOD-4928 | biostudies-arrayexpress
ProteomicsSemen of gibel carp - Distinct sperm nucleus behaviors between genotypic and temperature-dependent sex determination males are associated with replication and expression-related pathways in a gynogenetic fish
In our study, differential male nucleus events and development behaviors were revealed from the fertilized eggs in response to the sperm from males of genotypic sex determination (GSD) and temperature-dependent sex determination (TSD) in gibel carp. When the eggs of maternal fish were fertilized by ...
ORGANISM(S): Carassius gibelio 
2018-06-14 | PXD008919 | Pride
Gibel carp Semen proteomics Gsd Tsd Itraq 
UnknownClinical and genetic spectrum of GSD type 6 in Korea.
Not available
S-EPMC10233917 | biostudies-literature
TranscriptomicsHepatic ChREBP activation limits NAFLD development in a mouse model for Glycogen Storage Disease type Ia/ Normalization of ChREBP activity in hepatic GSD Ia accelerates liver disease progression and sensitizes towards hepatocellular tumour formation.
abstract1: Glycogen storage disease type Ia (GSD Ia) is an inborn error of metabolism caused by defective glucose-6-phosphatase (G6PC) activity. GSD Ia patients exhibit severe hepatomegaly due to glycogen and triglyceride (TG) accumulation in the liver. We have previously shown that the activity of ...
ORGANISM(S): Mus musculus 
2023-04-22 | GSE143357 | GEO
UnknownProgressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease.
Not available
S-EPMC11633833 | biostudies-literature
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