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index medicus (11) 11
sulfatases - genetics (9) 9
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Respiratory Research, ISSN 1465-9921, 05/2017, Volume 18, Issue 1, pp. 77 - 77
Background: It has been observed that mice lacking the sulfatase modifying factor (Sumf1) developed an emphysema-like phenotype. However, it is unknown if... 
Chronic obstructive pulmonary disease | Single nucleotide polymorphism | Sulfatase modifying factor 1 | Lung fibroblast | Sputum | LUNG | STANDARDIZATION | FORMYLGLYCINE-GENERATING ENZYME | RESPIRATORY SYSTEM | MUTATIONS | DEFICIENCY | COPD | Sulfatases - genetics | Genetic Predisposition to Disease - genetics | Reproducibility of Results | Prevalence | Genetic Association Studies | Humans | Risk Factors | Male | Smoking - genetics | Biomarkers - blood | Sweden - epidemiology | Pulmonary Disease, Chronic Obstructive - epidemiology | Sputum - metabolism | Smoking - metabolism | Smoking - epidemiology | Genetic Markers - genetics | Sensitivity and Specificity | Sulfatases - blood | Polymorphism, Single Nucleotide - genetics | Female | Aged | Pulmonary Disease, Chronic Obstructive - metabolism | Pulmonary Disease, Chronic Obstructive - genetics | Alternative splicing | Enzymes | Disease | Lung diseases | Health risks | Genomes | Single-nucleotide polymorphism | Tissue analysis | Gene expression | Patients | Asthma | Quantitative trait loci | Studies | Genotyping | Biopsy | Obstructive lung disease | Fibroblasts | Mutation | Carbon monoxide | Emphysema | Smoking | Index Medicus | Research | Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Lungmedicin och allergi | Klinisk medicin | Respiratory Medicine and Allergy
Journal Article
Biochemical Journal, ISSN 0264-6021, 04/2007, Volume 403, Issue 2, pp. 305 - 312
Sulfatases are enzymes that hydrolyse a diverse range of sulfate esters. Deficiency of lysosomal sulfatases leads to human diseases characterized by the... 
Adeno-associated virus (AAV) | Sulfatase | Lentivirus | Sulfatase-modifying factor 1 (SUMF1) | Formylglycine-generating enzyme (FGE) | Lysosomal storage disorder | adeno-associated virus (AAV) | FORMYLGLYCINE-GENERATING ENZYME | GENE DELIVERY | BIOCHEMISTRY & MOLECULAR BIOLOGY | sulfatase | METACHROMATIC LEUKODYSTROPHY | ARYLSULFATASE-A | lysosomal storage disorder | LENTIVIRAL VECTORS | THERAPY | MOUSE MODEL | DISEASE | formylglycine-generating enzyme (FGE) | MICE | sulfatase-modifying factor 1 (SUMF1) | MPS-IIIA | lentivirus | Sulfatases - genetics | Isoenzymes - genetics | Humans | Cells, Cultured | Male | Sulfatases - deficiency | Mutation - genetics | Cysteine - genetics | Protein Transport | Lentivirus - metabolism | Animals | Muscles - enzymology | Isoenzymes - metabolism | Sulfatases - metabolism | Adenoviridae - genetics | Lentivirus - genetics | Cysteine - metabolism | Mice | Index Medicus | HSPC, haemopoietic stem | MPS, mucopolysaccharidosis | progenitor cells | AAV, adeno-associated virus | SUMF1, sulfatase-modifying factor 1 | BM, bone marrow | DMEM, Dulbecco's modified Eagle's medium | CDPX, X-linked dominant chondrodysplasia punctata | LV, lentivirus | MSD, multiple sulfatase deficiency | PBMC, peripheral blood mononuclear cell | GFP, green fluorescent protein | MLD, metachromatic leukodystrophy | IDS, iduronate sulfatase | GAG, glycosaminoglycan | p-NC, p-nitrocatechol sulfate | DAPI, 4′,6-diamidino-2-phenylindole | ARS, arylsulfatase | HA, haemagglutinin | PGK, phosphoglycerate kinase | SGSH, sulfamidase | CMV, cytomegalovirus | HEK-293T, human embryonic kidney
Journal Article
FEBS Journal, ISSN 1742-464X, 09/2010, Volume 277, Issue 17, pp. 3608 - 3619
Journal Article
Journal Article
Journal of Biomolecular Structure and Dynamics, ISSN 0739-1102, 10/2018, Volume 36, Issue 13, pp. 3575 - 3585
The major candidate for multiple sulfatase deficiency is a defective formylglycine-generating enzyme (FGE). Though adequately produced, mutations in FGE stall... 
DMD, discrete molecular dynamics | AUC, area under the curve | FGE, formylglycine-generating enzyme | PIC, protein interaction calculator | FEL, free energy landscape | RMSF, root mean square fluctuation | multiple sulfatase | PCA, principal component analysis | lysosomal storage disorder | misfolding | MD, molecular dynamics | RoG, radius of gyration | FGly, formylglycine | genetic disorder | MCC, Mathew's correlation coeffecient | discrete molecular dynamics | LSD, lysosomal storage disorder | SUMF1, sulfatase-modifying factor | PDB, Protein Data Bank | RMSD, root mean square deviation | RCSB, Research Collaboratory for Structural Bioinformatics | free energy landscape | ARSB, aryl sulfatase B | SVM-3D, support vector machine-3D | MSD, multiple sulfatase defeciency | MCC, Mathew’s correlation coeffecient | CLUSPRO | MOLECULAR-DYNAMICS | MECHANISM | RECOGNITION | DOCKING | STABILITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | PEPTIDE | BIOPHYSICS | SECONDARY STRUCTURE | PROTEINS | WEB SERVER | Glycine - analogs & derivatives | Sulfatases - genetics | Protein Structure, Secondary | Humans | Sulfatases - metabolism | Glycine - biosynthesis | Models, Molecular | Amino Acid Substitution - genetics | Molecular Dynamics Simulation | Mutation, Missense - genetics | Multiple Sulfatase Deficiency Disease - genetics | Index Medicus
Journal Article
Annals of Indian Academy of Neurology, ISSN 0972-2327, 10/2013, Volume 16, Issue 4, pp. 720 - 722
Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The gene sulfatase-modifying... 
multiple sulfatase deficiency | Child | sulfatase-modifying factor 1 gene | CLINICAL NEUROLOGY | Metabolism, Inborn errors of | Cysteine | Gene mutations | Medical genetics | Genetic aspects | Diagnosis | Research | Children | Health aspects | Case Report
Journal Article
Gene, ISSN 0378-1119, 2004, Volume 336, Issue 2, pp. 155 - 161
Journal Article
Journal Article
Journal Article
Development Genes and Evolution, ISSN 0949-944X, 8/2011, Volume 221, Issue 3, pp. 157 - 166
Journal Article
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