Elevated glucosylsphingosine in Gaucher disease induced pluripotent stem cell neurons deregulates ly...
Elevated glucosylsphingosine in Gaucher disease induced pluripotent stem cell neurons deregulates lysosomal compartment through mammalian target of rapamycin complex 1
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Hoboken, USA: John Wiley & Sons, Inc
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English
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Hoboken, USA: John Wiley & Sons, Inc
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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 the accumulation of glucosylceramide (GlcCer) and g...
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Elevated glucosylsphingosine in Gaucher disease induced pluripotent stem cell neurons deregulates lysosomal compartment through mammalian target of rapamycin complex 1
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TN_cdi_doaj_primary_oai_doaj_org_article_28529c8f68eb46f1a11a4250551275b4
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_28529c8f68eb46f1a11a4250551275b4
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ISSN
2157-6564
E-ISSN
2157-6580
DOI
10.1002/sctm.20-0386
