The Many Facets of Fabry Disease in the Kidney-Heart Axis

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Original languageEnglish
Article number120
Pages (from-to)1-4
Number of pages4
JournalJournal of Nephrology & Kidney Diseases
Issue number2
Publication statusPublished - 15 Nov 2018

    Research areas

  • Fabry Disease, Kidney-Heart Axis, Gb3, GLA


Lysosomes are ubiquitous throughout all cell-types of the body and an in
herited or acquired metabolic defect can potentially be causative of a disease phenotype as occurs in several lysosomal storage diseases (LSD). Fabry disease (FD) is one of the most prevalent LSD and is characterised by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) which is unable to exert its catabolic and clearance functions, thus leading to the accumulation of a specific type of ceramides—globotriaosylceramides (Gb3) in lysosomes. Many complications arise from FD, affecting manly the cardio-renal axis, the nervous system and skin. Since, this condition affects multi-tissues and organ-systems there is an unmet need to investigate how the molecular landscape is modulated after a single trigger caused by a mutation in GLA.

Bibliographic note

© 2018 Husi H et al.

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