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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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| Vydáno v: | Stem Cells Transl Med |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley & Sons, Inc.
2021
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| Témata: | |
| On-line přístup: | 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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