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
Identification, functional and structural characterization of novel aminoglycoside phosphotransferase APH(3″)-Id from Streptomyces rimosus subsp. rimosus ATCC 10970.
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DOI: 10.1016/j.abb.2019.06.008
Abstract: In this study, we identified a new gene (aph(3″)-Id) coding for a streptomycin phosphotransferase by using phylogenetic comparative analysis of the genome of the oxytetracycline-producing strain Streptomyces rimosus ATCC 10970. Cloning the aph(3″)-Id gene in… read more here.
Keywords: phosphotransferase; phosphotransferase aph; atcc 10970; aph ... See more keywords
Structures of the mannose-6-phosphate pathway enzyme, GlcNAc-1-phosphotransferase
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2203518119
Abstract: Significance Lysosomes are cellular organelles containing a variety of degradative enzymes. The protein N-acetylglucosamine-1-phosphotransferase (GNPT) is responsible for directing these enzymes to be delivered to lysosomes. Genetic mutations in GNPT cause the diseases mucolipidosis types… read more here.
Keywords: phosphate pathway; enzyme glcnac; mannose phosphate; structures mannose ... See more keywords
The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection
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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
Autoinducer 2 Signaling via the Phosphotransferase FruA Drives Galactose Utilization by Streptococcus pneumoniae, Resulting in Hypervirulence
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DOI: 10.1128/mbio.02269-16
Abstract: ABSTRACT Communication between bacterial cells is crucial for the coordination of diverse cellular processes that facilitate environmental adaptation and, in the case of pathogenic species, virulence. This is achieved by the secretion and detection of… read more here.
Keywords: phosphotransferase; gram positive; system; pneumoniae ... See more keywords