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 (<i>GLA</i>) 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 increa...

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Autores principales: Ulrich Jehn, Samet Bayraktar, Solvey Pollmann, Veerle Van Marck, Thomas Weide, Hermann Pavenstädt, Eva Brand, Malte Lenders
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
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Acceso en línea:https://doaj.org/article/70bbf552057440518a268a3f9bfccd02
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