Sort   by:  
 Page size 
GenomicsFabry nephropathy transcriptome
Fabry nephropathy transcriptome
PRJNA741535 | ENA
ProteomicsPodocyte injury in Fabry nephropathy
Current therapies for Fabry disease are based on reversing intra-cellular accumulation of globotriaosylceramide (Gb3) by enzyme replacement (ERT) or chaperone mediated stabilization, thereby alleviating lysosome dysfunction. However, the therapeutic effect in the regression of end-organ damage (ie. ...
ORGANISM(S): Homo sapiens (Human) 
2023-07-20 | PXD029618 | Pride
Nephropathy Crispr/cas9 Fabry disease  podocyte 
ProteomicsProteomic anlaysis of Fabry iPSC derived cardiomyocytes treated with GLA modRNA
Recent studies in non-human model systems have shown therapeutic potential of modified mRNA (modRNA) treatments for lysosomal storage diseases. Here, we assessed the efficacy of a modRNA treatment to restore the expression of the α-galactosidase (GLA) gene in a human cardiac model generated from ...
ORGANISM(S): Homo sapiens (Human) 
2023-07-20 | PXD038361 | Pride
Cardiomyocytes Ipsc Fabry 
ProteomicsEnzyme replacement therapy for Fabry disease: possible strate-gies to improve its efficacy
Enzyme Replacement Therapy is the only therapeutic option for Fabry patients with completely absent AGAL activity. However, it has many limitations, in terms of costs, high rh-protein re-quired, and side effects; thus, its optimization would be beneficial for patients. In this paper, we describe pre...
ORGANISM(S): Homo sapiens (Human) 
2023-05-10 | PXD039168 | Pride
Fabry disease  drug repositioning  interactome  gla  fabrazyme  replagal. 
UnknownInner ear involvement in Anderson-Fabry disease: long-term follow-up during enzyme replacement therapy.
Not available
S-EPMC2882147 | biostudies-literature
GenomicsPodocyte injury in Fabry nephropathy
Podocyte injury in Fabry nephropathy
PRJNA773084 | ENA
UnknownGastrointestinal Symptoms of Patients with Fabry Disease.
Not available
S-EPMC4736195 | biostudies-literature
UnknownIncreased arterial diameters in the posterior cerebral circulation in men with Fabry disease.
Not available
S-EPMC3903616 | biostudies-literature
TranscriptomicsFabry nephropathy transcriptome
Fabry nephropathy (FN) is a rare disorder caused by mutations in the alpha-galactosidase A gene. In this study we aim at providing a framework allowing selection of biomarkers and drug-targets. Two independent Fabry Nephropathy cohorts (FA.NO and CH.RO) were subjected to RNAseq from archival kidney ...
ORGANISM(S): Homo sapiens 
2023-07-17 | GSE178947 | GEO
GenomicsNatural History and Structural Functional Relationships in Fabry Renal Disease - LDN 6702
Natural History and Structural Functional Relationships in Fabry Renal Disease - LDN 6702
PRJNA378854 | ENA
Sort   by:  
 Page size