Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis

Acid sphingomyelinase deficiency (ASMD) or Niemann–Pick disease type A (NPA), type B (NPB) and type A/B (NPA/B), is a rare lysosomal storage disease characterized by progressive accumulation of sphingomyelin (SM) in the liver, lungs, bone marrow and, in severe cases, neurons. A disease model was est...

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Detalles Bibliográficos
Autores principales: Gomez-Mariano, Gema, Perez-Luz, Sara, Ramos-Del Saz, Sheila, Matamala, Nerea, Hernandez-SanMiguel, Esther, Fernandez-Prieto, Marta, Gil-Martin, Sara, Justo, Iago, Marcacuzco, Alberto, Martinez-Delgado, Beatriz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454326/
https://www.ncbi.nlm.nih.gov/pubmed/37628828
http://dx.doi.org/10.3390/ijms241612645

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