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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10342917/
https://www.ncbi.nlm.nih.gov/pubmed/37446383
http://dx.doi.org/10.3390/ijms241311204

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