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A zebrafish model of combined saposin deficiency identifies acid sphingomyelinase as a potential therapeutic target

Sphingolipidoses are a subcategory of lysosomal storage diseases (LSDs) caused by mutations in enzymes of the sphingolipid catabolic pathway. Like many LSDs, neurological involvement in sphingolipidoses leads to early mortality with limited treatment options. Given the role of myelin loss as a major...

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Detalles Bibliográficos
Autores principales: Zhang, Tejia, Alonzo, Ivy, Stubben, Chris, Geng, Yijie, Herdman, Chelsea, Chandler, Nancy, Doane, Kim P., Pluimer, Brock R., Trauger, Sunia A., Peterson, Randall T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10320721/
https://www.ncbi.nlm.nih.gov/pubmed/37183607
http://dx.doi.org/10.1242/dmm.049995