Letter: Exon 19 of the GNPTAB Gene is Indispensable for the Catalytic Activity of the Enzyme

This publication has 8 references indexed in Scilit:

• Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II
  Orphanet Journal of Rare Diseases, 2026
• Molecular insights into the regulation of GNPTαβ by LYSET
  Nature Communications, 2026
• Protocol to measure endogenous GlcNAc-1-phosphotransferase activity in SK-MEL-30 cells
  STAR Protocols, 2025
• Structure of a truncated human GlcNAc-1-phosphotransferase variant reveals the basis for its hyperactivity
  Journal of Biological Chemistry, 2024
• Structure of the human GlcNAc-1-phosphotransferase αβ subunits reveals regulatory mechanism for lysosomal enzyme glycan phosphorylation
  Nature Structural & Molecular Biology, 2022
• Development of an Antisense Oligonucleotide-Mediated Exon Skipping Therapeutic Strategy for Mucolipidosis II: Validation at RNA Level
  Human Gene Therapy, 2020
• A Key Enzyme in the Biogenesis of Lysosomes Is a Protease That Regulates Cholesterol Metabolism
  Science, 2011
• Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity
  Clinical Genetics, 2010