Disease‐causing missense mutations within the N‐terminal transmembrane domain of GlcNAc‐1‐phosphotransferase impair endoplasmic reticulum translocation or Golgi retention
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24019
Abstract: 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… read more here.
Keywords: phosphotransferase; mutations within; terminal transmembrane; golgi ... See more keywords
LYSET/TMEM251- a novel key component of the mannose-6-phosphate pathway.
Sign Up to like & getrecommendations! Published in 2023 at "Autophagy"
DOI: 10.1080/15548627.2023.2167376
Abstract: Degradation of macromolecules delivered to lysosomes by processes such as autophagy or endocytosis is crucial for cellular function. Lysosomes require more than 60 soluble hydrolases in order to catabolize such macromolecules. These soluble hydrolases are… read more here.
Keywords: phosphate; lyset tmem251; mannose phosphate; glcnac phosphotransferase ... See more keywords
Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins
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DOI: 10.1126/science.abn5637
Abstract: Mammalian cells can generate amino acids through macropinocytosis and lysosomal breakdown of extracellular proteins, which is exploited by cancer cells to grow in nutrient-poor tumors. Through genetic screens in defined nutrient conditions, we characterized LYSET,… read more here.
Keywords: amino acids; glcnac phosphotransferase; extracellular proteins; cancer ... See more keywords
The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection
Sign Up to like & getrecommendations! Published in 2022 at "Science"
DOI: 10.1126/science.abn5648
Abstract: Lysosomes are key degradative compartments of the cell. Transport to lysosomes relies on GlcNAc-1-phosphotransferase–mediated tagging of soluble enzymes with mannose 6-phosphate (M6P). GlcNAc-1-phosphotransferase deficiency leads to the severe lysosomal storage disorder mucolipidosis II (MLII). Several… read more here.
Keywords: viral infection; infection; glcnac phosphotransferase; phosphotransferase ... See more keywords