Massive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type A

Niemann-Pick type A disease (NPA) is a rare lysosomal storage disorder caused by mutations in the gene coding for the lysosomal enzyme acid sphingomyelinase (ASM). ASM deficiency leads to the consequent accumulation of its uncatabolized substrate, the sphingolipid sphingomyelin (SM), causing severe...

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Detalles Bibliográficos
Autores principales: Carsana, Emma Veronica, Lunghi, Giulia, Prioni, Simona, Mauri, Laura, Loberto, Nicoletta, Prinetti, Alessandro, Zucca, Fabio Andrea, Bassi, Rosaria, Sonnino, Sandro, Chiricozzi, Elena, Duga, Stefano, Straniero, Letizia, Asselta, Rosanna, Soldà, Giulia, Samarani, Maura, Aureli, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293875/
https://www.ncbi.nlm.nih.gov/pubmed/35727525
http://dx.doi.org/10.1007/s12031-022-02036-4

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