Abstract
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.
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 language | English |
|---|---|
| Article number | 120 |
| Pages (from-to) | 1-4 |
| Number of pages | 4 |
| Journal | Journal of Nephrology and Kidney Diseases |
| Volume | 1 |
| Issue number | 2 |
| Publication status | Published - 15 Nov 2018 |
Keywords
- Fabry Disease
- Kidney-Heart Axis
- Gb3
- GLA