Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish
Abstract
:1. Introduction
2. Sphingolipidoses
2.1. Gaucher Disease
2.2. Fabry Disease
2.3. Niemann–Pick Disease
2.4. Krabbe Disease
2.5. Farber Lipogranulomatosis
2.6. GM1 and GM2 Gangliosidoses
2.6.1. GM1 Gangliosidosis
2.6.2. GM2 Gangliosidosis
AB Variant
Tay–Sachs Disease
Sandhoff Disease
2.7. Metachromatic Leukodystrophy
3. Sphingolipids in Zebrafish
3.1. Zebrafish Lipidomics
3.2. Sphingolipid Metabolizing Enzymes in Zebrafish
4. Zebrafish as an Animal Model for Sphingolipidoses: The “Zebra-Sphinx” Platform
4.1. Gaucher Disease
4.2. Fabry Disease
4.3. Niemann–Pick Disease
4.4. Krabbe Disease
4.5. Farber Lipogranulomatosis
4.6. GM2 Gangliosidoses
4.6.1. Tay–Sachs Disease
4.6.2. Sandhoff Disease
4.7. Metachromatic Leukodystrophy
5. Concluding Remarks
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
References
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Disease | OMIM | Affected Gene | Deficient Protein | Main Accumulated Metabolite |
---|---|---|---|---|
Gaucher | #230800 (type I) #230900 (type II) #231000 (type III) | GBA1 | Acid β-glucocerebrosidase | Glucosylceramide |
Fabry | #301500 | GLA | α-Galactosidase A | Globotriaosylceramide |
Niemann–Pick | #257200 (type A) #607616 (type B) | SMPD1 | Acid sphingomyelinase | Sphingomyelin |
#257220 (type C1) | NPC1 | NPC intracellular cholesterol transporter 1 | Cholesterol | |
#607625 (type C2) | NPC2 | NPC intracellular cholesterol transporter 2 | ||
Krabbe | #245200 | GALC | β-Galactosylceramidase | β-Galactosylsphingosine |
Farber lipogranulomatosis | #228000 | ASAH1 | Acid ceramidase | Ceramide |
GM1 gangliosidosis | #230500 (type I) #230600 (type II) #230650 (type III) | GBL1 | β-Galactosidase | GM1 ganglioside |
GM2 gangliosidosis | #272750 (AB variant) | GM2A | GM2 activator protein | GM2 ganglioside |
#272800 (Tay-Sachs) | HEXA | Hexosaminidase α-subunit | ||
#268800 (Sandhoff) | HEXB | Hexosaminidase β-subunit | ||
Metachromatic leukodystrophy | #250100 | ARSA | Arylsulfatase A | Sulfo-galactosylceramide |
Disease | Human Gene | Zebrafish Orthologous | Zebrafish Model |
---|---|---|---|
Gaucher | GBA1 | gba1 | MO [138] Spontaneous mutation [138] TALEN [139] CRISPR/Cas9 [117,140] |
Fabry | GLA | gla | CRISPR/Cas9 [131] |
Niemann–Pick | SMPD1 NPC1 NPC2 | smpd1 npc1 npc2 | CRISPR/Cas9 [122] MO [141] CRISPR/Cas9 [142,143,144,145] |
Krabbe | GALC | GALCa GALCb | MO [146] |
Farber lipogranulomatosis | ASAH1 | asah1a asah1b | MO [147] CRISPR/Cas9 [111] |
GM2 gangliosidosis | HEXA HEXB | hexa hexb | MO [148,149] CRISPR/Cas9 [150] |
Metachromatic leukodystrophy | ARSA | arsa | MO [148] |
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Mignani, L.; Guerra, J.; Corli, M.; Capoferri, D.; Presta, M. Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish. Int. J. Mol. Sci. 2023, 24, 4747. https://doi.org/10.3390/ijms24054747
Mignani L, Guerra J, Corli M, Capoferri D, Presta M. Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish. International Journal of Molecular Sciences. 2023; 24(5):4747. https://doi.org/10.3390/ijms24054747
Chicago/Turabian StyleMignani, Luca, Jessica Guerra, Marzia Corli, Davide Capoferri, and Marco Presta. 2023. "Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish" International Journal of Molecular Sciences 24, no. 5: 4747. https://doi.org/10.3390/ijms24054747