Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions
Abstract
:1. Introduction
2. Clinical Manifestation of FD
3. Storage Cells and Secondary Storage Lipids
4. Pathophysiology
5. Diagnosis
6. α-GalA: Reaction Mechanism and Activity-Based Probes (ABPs)
7. Present α-GalA-Centered Therapy Approaches
8. A4GALT: Reaction Mechanism and Enzymatic Products
9. A4GALT Inhibitors and Future Directions
10. Concluding Remarks
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Kok, K.; Zwiers, K.C.; Boot, R.G.; Overkleeft, H.S.; Aerts, J.M.F.G.; Artola, M. Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions. Biomolecules 2021, 11, 271. https://doi.org/10.3390/biom11020271
Kok K, Zwiers KC, Boot RG, Overkleeft HS, Aerts JMFG, Artola M. Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions. Biomolecules. 2021; 11(2):271. https://doi.org/10.3390/biom11020271
Chicago/Turabian StyleKok, Ken, Kimberley C. Zwiers, Rolf G. Boot, Hermen S. Overkleeft, Johannes M. F. G. Aerts, and Marta Artola. 2021. "Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions" Biomolecules 11, no. 2: 271. https://doi.org/10.3390/biom11020271