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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Detalhes bibliográficos
Publicado no:Stem Cells Transl Med
Main Authors: Srikanth, Manasa P., Jones, Jace W., Kane, Maureen, Awad, Ola, Park, Tea Soon, Zambidis, Elias T., Feldman, Ricardo A.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2021
Assuntos:
Pluripotent Stem Cells
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8235124/
https://ncbi.nlm.nih.gov/pubmed/33656802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/sctm.20-0386
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