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Journal of Child Neurology, ISSN 0883-0738, 11/2018, Volume 33, Issue 13, pp. 820 - 824
Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine-generating enzyme, which is encoded by... 
sulfatases | Austin disease | multiple sulfatase deficiency | mucosulfatidosis | lysosomal storage disorders | SUMF1 | SUMF1 MUTATIONS | PEDIATRICS | CLINICAL NEUROLOGY
Journal Article
Cell, ISSN 0092-8674, 2003, Volume 113, Issue 4, pp. 445 - 456
In multiple sulfatase deficiency (MSD), a human inherited disorder, the activities of all sulfatases are impaired due to a defect in posttranslational... 
Journal Article
CELL, ISSN 0092-8674, 05/2003, Volume 113, Issue 4, pp. 435 - 444
C-alpha-formylglycine (FGly) is the catalytic residue in the active site of eukaryotic sulfatases. It is posttranslationally generated from a cysteine in the... 
POSTTRANSLATIONAL FORMATION | HUMAN ARYLSULFATASE-A | EUKARYOTIC SULFATASES | MECHANISM | CONVERSION | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROTEIN MODIFICATION | CYSTEINE | ENDOPLASMIC-RETICULUM | FIBROBLASTS | CELL BIOLOGY | Enzymes | Cell research | Composition | Gene mutations | Analysis | Physiological aspects | Genetic aspects | Minerals in nutrition | Gene expression | Glycine
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2018, Volume 123, Issue 3, pp. 337 - 346
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
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
Journal Article
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
Human Mutation, ISSN 1059-7794, 09/2007, Volume 28, Issue 9, pp. 928 - 928
Sulfatases catalyze the hydrolysis of sulfate ester bonds from a wide variety of substrates and are implicated in several human inherited diseases. Multiple... 
Multiple Sulfatase Deficiency | sulfatases | residual activity | SUMF1 | Sulfatases - genetics | Embryo, Mammalian | Humans | Cells, Cultured | Codon, Nonsense | Mice, Knockout | Multiple Sulfatase Deficiency Disease - genetics | Gene Expression Regulation, Enzymologic | Tissue Distribution | Animals | Transfection | Sulfatases - metabolism | Mice | Index Medicus
Journal Article