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

Marco Fernandes, Holger Husi

Research output: Contribution to journalArticlepeer-review

73 Citations (Scopus)
91 Downloads (Pure)


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


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


Dive into the research topics of 'The Many Facets of Fabry Disease in the Kidney-Heart Axis'. Together they form a unique fingerprint.

Cite this