2021
DOI: 10.3390/ijms222111339
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Abstract: Fabry disease (FD) is caused by mutations in the α-galactosidase A (GLA) gene encoding the lysosomal AGAL enzyme. Loss of enzymatic AGAL activity and cellular accumulation of sphingolipids (mainly globotriaosylcermide) may lead to podocyturia and renal loss of function with increased cardiovascular morbidity and mortality in affected patients. To identify dysregulated cellular pathways in FD, we established a stable AGAL-deficient podocyte cell line to perform a comprehensive proteome analysis. Imbalanced prot… Show more

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Cited by 12 publications
(7 citation statements)
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References 33 publications
(50 reference statements)
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“…Of note treatment with induction of α-Gal A expression normalized protein expression only in part. A similar abnormal protein expression was also observed in endothelial and epithelial cells, suggesting a FD-specific rather than a cell-specific intracellular pathways disruption [51].…”
Section: Secondary Pathways Of Cellular Damage Beyond Storagesupporting
confidence: 58%
“…Of note treatment with induction of α-Gal A expression normalized protein expression only in part. A similar abnormal protein expression was also observed in endothelial and epithelial cells, suggesting a FD-specific rather than a cell-specific intracellular pathways disruption [51].…”
Section: Secondary Pathways Of Cellular Damage Beyond Storagesupporting
confidence: 58%
“…Jehn et al [ 63 ] recently described alterations in the lysosomal pathway in the context of FD. In particular, they reported an increased expression in lysosomal hydrolases that was potentially due to Gb3 accumulation in lysosomes.…”
Section: Resultsmentioning
confidence: 99%
“…Besides, podocytes are relatively resistant to ERT as GL-3 deposits can persist post ERT [ 30 ]. In vitro studies generating transient and stable GLA knockout FD podocyte cell lines [ 31 , 32 ] have shown dysregulated cellular signaling pathways in human podocytes. IVS4+1326C>T identified in our case was associated with mild α-GalA enzyme deficiency that manifested predominantly as Fabry podocytopathy.…”
Section: Discussionmentioning
confidence: 99%