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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
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 
UnknownBiomarkers of Fabry Nephropathy: Review and Future Perspective.
Not available
S-EPMC7564978 | biostudies-literature
UnknownUrinary Extracellular Vesicles and Their miRNA Cargo in Patients with Fabry Nephropathy.
Not available
S-EPMC8305897 | biostudies-literature
ProteomicsProteomic analysis of cultured primary urinary cells from M. Fabry Patients
We analyzed the proteome of primary urinary cells from patients with M. Fabry as compared to primary urinary cells from healthy control samples
ORGANISM(S): Homo sapiens (Human) 
2018-10-17 | PXD007081 | Pride
Human Puc Fabry's diseaes 
UnknownTelomere Length, Oxidative Stress, and Kidney Damage Biomarkers in Fabry Nephropathy.
Not available
S-EPMC11817696 | biostudies-literature
UnknownReplacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.
Not available
S-EPMC2956889 | biostudies-literature
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