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Printable Handouts
Navigable Slide Index
- Introduction
- Speaker's personal background
- Clinical expression of Gaucher disease (GD)
- Molecular basis of Gaucher disease
- Enzyme deficiency & lysosomal lipid accumulation
- Type 1 Gaucher disease
- Genetic & phenotypic heterogeneity
- Discordant monozygotic Gaucher twins
- Sources of GlcCer substrate
- Gaucher cells driving visceral pathology
- Is type 1 GD only a disorder of macrophages?
- Disease; storage cells; therapeutic correction
- Therapies for type 1 Gaucher disease
- Enzyme replacement therapy
- Disease; storage cells; biomarkers
- Protein biomarkers
- Chitotriosidase: a marker for Gaucher disease
- Gaucher cells as source of chitotriosidase
- Chitotriosidase: the human macrophage chitinase
- Plasma chitotriosidase changes upon ERT
- Use in clinical management of type 1 GD patients
- Chitotriosidase plasma levels
- Pitfalls with chitotriosidase measurement
- Superior substrate for chitotriosidase assay
- Chitotriosidase deficiency
- Chemokine CCL18/PARC
- Elevated CCL18 levels in Gaucher serum
- Protein composition of Gaucher cells: proteomics
- Galectin-3: newly discovered protein abnormality
- Markers of skeletal disease in Gaucher patients
- MIP-1alpha and MIP-1beta in GD plasma
- Gaucher cells don't produce MIP-1beta or alpha
- Plasma MIP-1beta and skeletal disease
- Potential lipid biomarkers
- Increased plasma GlcCer and GM3 in type 1 GD
- Increased plasma GlcSph in type 1 GD
- Plasma GlcSph correction by ERT
- Plasma GlcSph and disease manifestations
- Glucosylsphingosine: a cytotoxic compound
- Plasma GlcSph: a Gaucher biomarker
- Other pathologies related to Gaucher disease
- Skin pathophysiology
- Brain pathophysiology: different hypotheses
- Bone disease
- Osteoporosis in Gaucher disease
- Metabolic abnormalities
- Impaired insulin sensitivity
- Growth retardation
- Increased risk for cancer
- Increased risk for parkinsonism
- Immune system: the missing link?
- Acknowledgements
Topics Covered
- Gaucher disease
- Clinical manifestations
- Primary defect: gene, enzyme, storage material
- Visceral pathology: organomegaly and haematological complications
- Gaucher cells: lipid-laden macrophages
- Circulating markers for storage cells
- Therapy
- Other pathological aspects of Gaucher disease: bone, brain, body metabolism
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Aerts, J.M. (2013, January 30). Gaucher disease: from lysosomal storage to immunopathology [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 31, 2025, from https://doi.org/10.69645/SCCV5128.Export Citation (RIS)
Publication History
- Published on January 30, 2013
Financial Disclosures
- Prof. Johannes M.F.G. Aerts has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Gaucher disease: from lysosomal storage to immunopathology
                  Published on January 30, 2013
                  
                    
                      
                        
                      
                    
                  
                  
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