Associated Papers
Structures of the mannose-6-phosphate pathway enzyme, GlcNAc-1-phosphotransferase.
Gorelik A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Structural insights into how GlcNAc-1-phosphotransferase directs lysosomal protein transport.
Du S et al.
The Journal of Biological Chemistry, 2022
Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.
Westermann LM et al.
Disease Models & Mechanisms, 2020
[Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review].
Liu N et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Velho RV et al.
Human Mutation, 2019
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
Ludwig NF et al.
The International Journal of Biochemistry & Cell Biology, 2017
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