Elevated glucosylsphingosine in Gaucher disease induced pluripotent stem cell neurons deregulates lysosomal compartment through mammalian target of rapamycin complex 1

Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in GBA1, the gene that encodes lysosomal β‐glucocerebrosidase (GCase). Mild mutations in GBA1 cause type 1 non‐neuronopathic GD, whereas severe mutations cause types 2 and 3 neuronopathic GD (nGD). GCase deficiency results in t...

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Detalles Bibliográficos
Autores principales: Srikanth, Manasa P., Jones, Jace W., Kane, Maureen, Awad, Ola, Park, Tea Soon, Zambidis, Elias T., Feldman, Ricardo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Pluripotent Stem Cells
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8235124/
https://www.ncbi.nlm.nih.gov/pubmed/33656802
http://dx.doi.org/10.1002/sctm.20-0386

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8235124/
https://www.ncbi.nlm.nih.gov/pubmed/33656802
http://dx.doi.org/10.1002/sctm.20-0386

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