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Science, ISSN 0036-8075, 7/2011, Volume 333, Issue 6038, pp. 87 - 90
Mucolipidosis II is a severe lysosomal storage disorder caused by defects in the α and β subunits of the hexameric N-acetylglucosamine-1-phosphotransferase... 
Enzymes | Phenotypes | REPORTS | Stem cells | Cell lines | HeLa cells | Lysosomes | Protein precursors | Amino acids | Embryonic stem cells | Cholesterols | CELLS | CONVERTASE | MULTIDISCIPLINARY SCIENCES | SITE-1 PROTEASE | GLCNAC-1-PHOSPHOTRANSFERASE | UDP-N-ACETYLGLUCOSAMINE | PHOSPHOTRANSFERASE | CLEAVAGE | IDENTIFICATION | ELEMENT-BINDING PROTEINS | SUBUNIT | Chondrocytes - cytology | Cricetulus | Humans | Lysosomes - enzymology | Proprotein Convertases - genetics | Protein Subunits - metabolism | Morphogenesis | Transferases (Other Substituted Phosphate Groups) - metabolism | Lysosomes - metabolism | Mucolipidoses - metabolism | Serine Endopeptidases - genetics | CHO Cells | Cell Line | Cricetinae | Mucolipidoses - enzymology | Enzyme Precursors - chemistry | Proprotein Convertases - metabolism | Lipid Metabolism | Mucolipidoses - genetics | Cholesterol - metabolism | Lysosomes - ultrastructure | Enzyme Precursors - metabolism | Mucolipidoses - pathology | Animals | Mannosephosphates - metabolism | Mice | N-Acetylgalactosamine-4-Sulfatase - metabolism | Protein Subunits - chemistry | RNA, Small Interfering | Serine Endopeptidases - metabolism | HeLa Cells | Transferases (Other Substituted Phosphate Groups) - chemistry | Osteogenesis | Proteases | Physiological aspects | Biosynthesis | Research | Metabolism | Cholesterol | Homeostasis
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 09/2018, Volume 19, Issue 1, pp. 162 - 7
Background: Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta... 
GlcNAc-1-phosphotransferase | Mucolipidosis III alpha/beta | GNPTAB | Pseudo-hurler polydystrophy | P.Q802 | Nonsense variant | MUCOPOLYSACCHARIDOSES | PHENOTYPE | SUBUNITS | LYSOSOMAL STORAGE DISORDERS | TANDEM MASS-SPECTROMETRY | TRANSPLANTATION | GENETIC-VARIATION | GENETICS & HEREDITY | OUTCOMES | I-CELL-DISEASE | Iduronate Sulfatase - metabolism | Transferases (Other Substituted Phosphate Groups) - genetics | Humans | beta-Hexosaminidase alpha Chain - metabolism | Child, Preschool | Lysosomes - enzymology | Male | Mucolipidoses - diagnosis | N-Acetylgalactosamine-4-Sulfatase - genetics | Chondroitinsulfatases - metabolism | beta-Hexosaminidase alpha Chain - genetics | Lysosomes - pathology | Transferases (Other Substituted Phosphate Groups) - deficiency | Iduronidase - genetics | Chondroitinsulfatases - genetics | Iduronidase - metabolism | Mucolipidoses - enzymology | Gene Expression Regulation | Mucolipidoses - genetics | Codon, Nonsense | Genes, Recessive | Mucolipidoses - pathology | Pedigree | Iduronate Sulfatase - genetics | N-Acetylgalactosamine-4-Sulfatase - metabolism | Case studies | Gene mutations | Genetic variation | Mucolipidoses | Transferases | Genetic research | Genetic aspects | Health aspects | Neonates | Inborn errors of metabolism | Transplants & implants | Nonsense mutation | Systematic review | Mannose | Mucopolysaccharidosis | Microcephaly | Genetic screening | Hernia | Genotype & phenotype | Enzymatic activity | Bone marrow | Genotypes | Age | Enzymes | Phenotypes | Hydrolase | Medical screening | Mucolipidosis | Microencephaly | Arylsulfatase | Birth weight | Phosphotransferase | Mutation | Galactose
Journal Article
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2014, Volume 124, Issue 7, pp. 2947 - 2962
Journal Article
PLoS ONE, ISSN 1932-6203, 2014, Volume 9, Issue 10, p. e109768
UDP-GlcNAc: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is an alpha(2)beta(2)gamma(2) hexameric enzyme that catalyzes the synthesis of the... 
LACKING | ACID-HYDROLASES | ALPHA/BETA | MULTIDISCIPLINARY SCIENCES | GNPTG GENE | ENZYME N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE | MICE | MUTATIONS | IDENTIFICATION | SUBUNIT | DEGENERATION | Spinal Cord - metabolism | Transferases (Other Substituted Phosphate Groups) - genetics | Male | Mice, 129 Strain | Motor Activity | Mucolipidoses - physiopathology | Psychomotor Disorders - metabolism | Psychomotor Disorders - genetics | Mucolipidoses - metabolism | Spinal Cord - pathology | Gangliosides - metabolism | Female | Microfilament Proteins - metabolism | Psychomotor Disorders - physiopathology | Disease Models, Animal | Calcium-Binding Proteins - metabolism | Mice, Inbred C57BL | Psychomotor Disorders - pathology | Mucolipidoses - genetics | Oligosaccharides - metabolism | Sensorimotor Cortex - physiopathology | Mice, Knockout | Mucolipidoses - pathology | Rotarod Performance Test | Animals | Sensorimotor Cortex - metabolism | Sensorimotor Cortex - pathology | Phosphates | Brain | Phosphorylation | Neurosciences | Animal models | N-Acetylglucosamine | Mesenchyme | Ganglioside GM2 | Lysosomal storage diseases | Cardiovascular disease | Mannose | Polysaccharides | Pathways | Neurodegeneration | Rodents | Chemical synthesis | Age | Enzymes | Internal medicine | Hydrolase | Abnormalities | Medicine | Mucolipidosis | Brain research | Gliosis | Depletion | Storage | Acids | Mice | Diabetes | Phosphotransferase | Mutation | Gene therapy | Laboratory animals
Journal Article
Journal Article