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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10318493 | PMC |
| http://dx.doi.org/10.1016/j.jbc.2023.104875 | DOI Listing |
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Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells.
J Biol Chem
October 2024
Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium. Electronic address:
Article Synopsis
- - Glycosylation-deficient CHO cell lines, specifically Lec5 and Lec9, have been key to understanding N-glycosylation, but the reasons behind their glycosylation defects remained unclear until now.
- - Dolichol synthesis from polyprenol was found to occur in three steps involving the enzymes DHRSX and SRD5A3, with Lec5 and Lec9 cells showing increased levels of polyprenol and decreased dolichol, indicating a deficiency in DHRSX.
- - Long-read genome sequencing revealed that the DHRSX gene was missing in Lec5 and Lec9 cells, while the SRD5A3 gene was intact, confirming that the glycosylation defects
In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts.
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Glycomine Inc., San Carlos, CA, USA. Electronic address:
PMM2-CDG is the most common congenital disorder of glycosylation (CDG). Patients with this disease often carry compound heterozygous mutations of the gene encoding the phosphomannomutase 2 (PMM2) enzyme. PMM2 converts mannose-6-phosphate (M6P) to mannose-1-phosphate (M1P), which is a critical upstream metabolite for proper protein N-glycosylation.
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