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UnknownInner ear involvement in Anderson-Fabry disease: long-term follow-up during enzyme replacement therapy.
Not available
S-EPMC2882147 | biostudies-literature
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. 
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 
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
GenomicsFabry nephropathy transcriptome
Fabry nephropathy transcriptome
PRJNA741535 | ENA
ProteomicsExosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by GLA mutations, leading to deficient α-galactosidase A (α-Gal A) activity and progressive glycosphingolipid accumulation. While α-Gal A activity is the diagnostic gold standard, its sensitivity is reduced in late-onset...
ORGANISM(S): Homo sapiens (Human) 
2025-12-08 | PXD069403 | Pride
Child Fabry disease Exosome Biomarkers 
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 
ProteomicsCharacterization of Plasma Proteomic Profile in Fabry Disease: Potential gender- and clinical phenotype-specific Biomarkers
Fabry disease (FD) is a rare metabolic disorder of X-linked lysosomal storage caused by mutations of the GLA gene that induce a deficiency in the activity of the enzyme α-galactosidase A (α-GalA). This deficiency leads to the lysosomal accumulation of globotriaosylsphingosine (lyso-GB3), resulting i...
ORGANISM(S): Homo sapiens (Human) 
2024-04-23 | PXD045528 | Pride
Lc-msms Fabry disease Swath-ms 
UnknownSymptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient Survey.
Not available
S-EPMC6822826 | biostudies-literature
UnknownRisk factors, stroke rates and aspirin prescribing trends in the Canadian Fabry disease initiative cohort.
Not available
S-EPMC12595872 | biostudies-literature
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