Mucopolysaccharidosis type III B (MPS IIIB) is a lysosomal storage disorder caused by mutations in the NAGLU gene encoding N-acetylglucosaminidase. Here, we report the generation of a human induced pluripotent stem cell (iPSC) line from dermal fibroblasts of a MPS IIIB patient. The iPSC line has homozygous mutations of G>A transversion at nucleotide 457 of the NAGLU gene (457G>A), resulting in the substitution of lysine for glutamic acid at codon 153 (Glu153Lys). This iPSC line allows for the study of disease phenotypes and pathophysiology as well as disease modeling in human cells.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6559735 | PMC |
| http://dx.doi.org/10.1016/j.scr.2019.101427 | DOI Listing |
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Article Synopsis
- MPS IIIB is a rare disorder caused by defects in the enzyme NAGLU, leading to brain dysfunction due to the accumulation of heparan sulfate in lysosomes.
- Researchers created a Drosophila (fruit fly) model with various NAGLU mutations to study the disorder's effects on activity and sleep patterns, revealing significant hyperactivity and sleep issues.
- The study found that gene expression changes in mutant flies are linked to problems with nervous system development and synaptic function, suggesting that this fly model could help develop future therapies for MPS IIIB.
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