Exploring the pathophysiologic cascade leading to osteoclastogenic activation in gaucher disease monocytes generated via CRISPR/Cas9 technology
Gaucher disease (GD) is caused by biallelic pathogenic variants in the acid β-glucosidase gene (GBA1), leading to a deficiency in the β-glucocerebrosidase (GCase) enzyme activity resulting in the intracellular accumulation of sphingolipids. Skeletal alterations are one of the most disabling features...
Guardado en:
| Autores principales: | Ormazabal, Maximiliano Emanuel, Pavan, Eleonora, Vaena, Emilio, Ferino, Dania, Biasizzo, Jessica, Mucci, Juan Marcos, Serra, Fabrizio, Cifù, Adriana, Scarpa, Maurizio, Rozenfeld, Paula Adriana, Dardis, Andrea Elena |
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| Formato: | Articulo |
| Lenguaje: | Inglés |
| Publicado: |
2023
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| Materias: | |
| Acceso en línea: | http://sedici.unlp.edu.ar/handle/10915/161002 |
| Aporte de: |
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