α-Galactosidase a Deficiency in Fabry Disease Leads to Extensive Dysregulated Cellular Signaling Pathways in Human Podocytes

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...

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Detalles Bibliográficos
Autores principales: Jehn, Ulrich, Bayraktar, Samet, Pollmann, Solvey, Van Marck, Veerle, Weide, Thomas, Pavenstädt, Hermann, Brand, Eva, Lenders, Malte
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8583658/
https://www.ncbi.nlm.nih.gov/pubmed/34768768
http://dx.doi.org/10.3390/ijms222111339

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8583658/
https://www.ncbi.nlm.nih.gov/pubmed/34768768
http://dx.doi.org/10.3390/ijms222111339

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