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Glycogen storage disease type Ib (GSD‐Ib) is caused by mutations of the glucose‐6‐phosphate transporter (G6PT) and characterized by disrupted glucose homeostasis, neutropenia, and neutrophil dysfunction. To investigate the role of G6PT in human adipose‐derived mesenchymal stem cells (hMSCs), the G6PT gene was mutated by CRISPR/Cas9 technology and single cell‐derived G6PT−/− hMSCs were established...
Palmitoyl-protein thioesterase-1 (PPT1) deficiency causes infantile neuronal ceroid lipofuscinosis (INCL), a devastating childhood neurodegenerative storage disorder. We previously reported that neuronal apoptosis in INCL is mediated by endoplasmic reticulum-stress. ER-stress disrupts Ca 2+ -homeostasis and stimulates the expression of Ca 2+ -binding proteins. We report here that in...
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