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Disease-causing Missense Mutations within the N-terminal Transmembrane Domain of GlcNAc-1-phosphotransferase Impair Endoplasmic Reticulum Translocation or Golgi Retention
Transport of newly synthesized lysosomal enzymes to the lysosome requires tagging of these enzymes with the mannose 6-phosphate moiety by UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase), encoded by two genes, GNPTAB and GNPTG. GNPTAB encodes the α a...
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| Publicado no: | Hum Mutat |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7292759/ https://ncbi.nlm.nih.gov/pubmed/32220096 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24019 |
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