GlcNAc-1-Phosphotransferase (UDP-GlcNAc; lysosomal enzyme N-acetylglu- cosamine-1-phosphotransferase; EC number 2.7.8.17) catalyzes the transfer of GlcNAc-1-phosphate from UDP-GlcNAc to the C-6 oxygen of selected mannose residues in high-mannose-type N-glycan. The product, mannose 6-phosphate ...
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GlcNAc-1-phosphotransferase (GNPT) catalyzes the initial step in the formation of the mannose-6-phosphate tag that labels ~60 lysosomal proteins for transport. Mutations in GNPT cause lysosomal storage disorders such as mucolipidoses. However, the molecular mechanism of GNPT remains unclear. Mammal...
GNPTGmisfoldingmucolipidosis III γp>The lysosomal storage disorder ML III γ is caused by defects in the γ subunit of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase, the enzyme that tags lysosomal enzymes with the mannose 6-phosphate lysosomal targeting signal. In patients ...
T. Braulke, S. Pohl, S. Storch, Molecular analysis of the GlcNac-1-phosphotrans- ferase, J. Inherit. Metab. Dis. 31 (2008) 253-257.T. Braulke, S. Pohl, S. Storch, Molecular analysis of the GlcNAc-1- phosphotransferase, J. Inherit. Metab. Dis. 31 (2008) 253-257....
These studies provide new insights into structural requirements for the assembly of the GlcNAc-1-phosphotransferase complex, and the functions of distinct domains of the α- and γ-subunits.doi:10.1002/1873-3468.12456Velho, Renata VoltoliniDe Pace, Raffaella...
GNPTG encodes the 纬-subunit of GlcNAc-1-phosphotransferase that catalyzes mannose 6-phosphate targeting signal synthesis on soluble lysosomal enzymes. ML III gamma patients are characterized by missorting of lysosomal enzymes. In this report, we describe the probable occurrence of mRNA editing in two...
Here, we demonstrate that two of the MLII missense mutations, c.80T>A (p.Val27Asp) and c.83T>A (p.Val28Asp), prevent the cotranslational insertion of the nascent GlcNAc-1-phosphotransferase polypeptide chain into the endoplasmic reticulum. The remaining four mutations, one of which is ...
GlcNAc-1-phosphotransferase catalyzes the initial step in the formation of the mannose-6-phosphate tag that labels ~60 lysosomal proteins for transport.Mudoi:10.2139/ssrn.3844731Du, ShuoWang, GuopengZhang, ZhiyingMa, ChengyingGao, NingXiao, Junyu...
Pathogenic variants in GNPTAB and GNPTG, encoding different subunits of GlcNAc-1-phosphotransferase, cause mucolipidosis (ML) II, MLIII alpha/beta, and MLIII gamma. This study aimed to investigate the cellular and molecular bases underlying skeletal abnormalities in patients with MLII and MLIII. ...