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Blood, ISSN 0006-4971, 12/2010, Volume 116, Issue 24, pp. 5130 - 5139
Journal Article
Journal Article
Science translational medicine, ISSN 1946-6234, 05/2019, Volume 11, Issue 493, p. eaav7325
Liver-directed gene therapy for the coagulation disorder hemophilia showed safe and effective results in clinical trials using adeno-associated viral vectors... 
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 04/2004, Volume 113, Issue 8, pp. 1118 - 1129
Gene-based delivery can establish a sustained supply of therapeutic proteins within the nervous system. For diseases characterized by extensive CNS and... 
MEDICINE, RESEARCH & EXPERIMENTAL | BONE-MARROW-TRANSPLANTATION | A-DEFICIENT MICE | ARYLSULFATASE-A | LYSOSOMAL STORAGE | CENTRAL-NERVOUS-SYSTEM | MEDIATED GENE-TRANSFER | RETROVIRAL VECTOR | VIRAL VECTORS | LENTIVIRAL VECTORS | CEREBROSIDE SULFATE
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 07/2009, Volume 29, Issue 27, pp. 8858 - 8870
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 08/2010, Volume 207, Issue 8, pp. 1647 - 1660
Self-renewal and differentiation of hematopoietic stem cells (HSCs) are balanced by the concerted activities of the fibroblast growth factor (FGF), Wnt, and... 
MEDICINE, RESEARCH & EXPERIMENTAL | C/EBP-ALPHA | ACTIVATION | STEM-CELL REPOPULATION | PATHWAY | MOUSE MODEL | IN-VIVO | GENE-EXPRESSION | SELF-RENEWAL | HEPARAN-SULFATE | IMMUNOLOGY | BETA-CATENIN | Animal Structures - cytology | CCAAT-Enhancer-Binding Protein-alpha - metabolism | Gene Expression - genetics | Extracellular Signal-Regulated MAP Kinases - antagonists & inhibitors | Glycogen Synthase Kinase 3 beta | Antigens, CD - metabolism | Hematopoiesis - drug effects | Phosphorylation - genetics | Lymphopoiesis - physiology | Hematopoiesis - physiology | Colony-Forming Units Assay | Phosphorylation - drug effects | Fibroblast Growth Factors - physiology | Sulfotransferases - genetics | Butadienes - pharmacology | Hematopoietic Stem Cell Transplantation | Receptor, Fibroblast Growth Factor, Type 1 - antagonists & inhibitors | beta Catenin - metabolism | Erythropoiesis - physiology | Mice, Knockout | Signal Transduction - drug effects | Hematopoietic Stem Cells - cytology | GATA1 Transcription Factor - genetics | CCAAT-Enhancer-Binding Protein-alpha - genetics | Mice | Wnt Proteins - physiology | Fibroblast Growth Factors - antagonists & inhibitors | Receptor, Notch1 - genetics | Sulfatases - genetics | Gene Expression - drug effects | Nitriles - pharmacology | Erythropoiesis - drug effects | Stem Cells - cytology | Extracellular Signal-Regulated MAP Kinases - metabolism | Stem Cells - metabolism | Sulfatases - metabolism | Sulfotransferases - metabolism | Cell Differentiation - physiology | Myelopoiesis - drug effects | Hematopoietic Stem Cells - drug effects | Lymphopoiesis - drug effects | Myelopoiesis - physiology | Bone Marrow Cells - cytology | Mice, Inbred C57BL | Hematopoietic Stem Cells - metabolism | Glycogen Synthase Kinase 3 - metabolism | GATA1 Transcription Factor - metabolism | Pyrroles - pharmacology | Animals | Cell Differentiation - drug effects | Signal Transduction - physiology | Protein Kinase Inhibitors - pharmacology | Bone Marrow Cells - metabolism | Index Medicus
Journal Article
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 07/2010, Volume 190, Issue 2, pp. i5 - i5
Journal Article
by de Vette, Ivar and Lombardo, Angelo and Berkhout, Ben and Vervoordeldonk, Margriet and Dekkers, Johanna F and Kruisselbrink, Evelien and Vonk, Annelotte M and de Jonge, Hugo R and de Winter, Karin M and de Groot, – and Janssens, Hettie M and Bronsveld, Inez and Nieuwenhuis, Edward E.S and Houwen, Roderick H.J and Vleggaar, Frank P and Escher, Hankje C and Clevers, Hans and van der Ent, Cornelis K and Buckland, Karen and Rivat, Christine and Himoudi, Nourredine and Gilmour, Kimberly and Booth, Claire and Cornetta, Kenneth and Kohn, Don B and Carbonaro, Denise and Paruzynski, Anna and Schmidt, Manfred and Thrasher, Adrian J and Schaffer, David and Hwang, Tae-Ho and Zinn, E and Khaychuk, V and Sarkar, D and Carvalho, L and Pacouret, S and Morris, H and Plovie, E and van Gent, Michiel and Gram, Anna and Boer, Ingrid and Horst, Danielle and Zaldumbide, Arnaud and Hoeben, Rob and Wiertz, Emmanuel and Maring, J and Smits, AM and Ouyang, Hong and Lin, Ying and Wang, Yujuan and Cai, Humim and Li, Gen and Patel, Sherrina and Zhu, Jie and Lin, Danni and Wen, Cindy and Zhu, Jin and Tsaalbi-Shtylik, Anastasia and Martín-Pardillos, Ana and Ferras, Cristina and Verspuy, Johan and Speksnijder, Ewoud and Jansen, Jacob and Peng, Kah Whye and Federspiel, Mark and Naik, Shruthi and Ruiz, Autumn and Lacy, Martha and Dispenzieri, Angela and O'Donovan, Liz and Arzumanov, Andrey A and Rahim, A.A and Burke, D.G and Buckley, S.M and Cullen, E and Mukherji, S and Mills, K and Sirka, E and Herbert, B and Karlsson, S and Hughes, D.A and Mehta, A.B and Howe, S.J and Heales, S and Cooper, J.D and Cheng, S.H and van Til, Niek P and Liang, Q and Stok, M and Wagemaker, G and Reiss, Ulrike M and Tuddenham, Edward G.D and Nienhuis, Arthur W and Davidoff, Andrew M and Meneghini, V and Lattanzi, A and Tiradani, L and Bravo, G and Morena, F and Martino, S and ...
Human Gene Therapy, ISSN 1043-0342, 11/2014, Volume 25, Issue 11, pp. A1 - A121
Journal Article
Clinical Chemistry, ISSN 0009-9147, 03/2009, Volume 55, Issue 3, pp. 541 - 548
  The determination of cellular β-galactocerebrosidase activity is an established procedure to diagnose Krabbe disease and monitor the efficacy of gene/stem... 
Proteins | Tissue | Brain | Genetic disorders | Disease | Mortality | Stem cells | Health hazards | Gene therapy
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
European Journal of Immunology, ISSN 0014-2980, 10/2009, Volume 39, Issue 10, pp. 2748 - 2754
A defect in invariant NKT (iNKT) cell selection was hypothesized in lysosomal storage disorders (LSD). Accumulation of glycosphingolipids (GSL) in LSD could... 
Invariant NKT cells | Lysosomal storage disorders | Selecting ligand | MULTIPLE SULFATASE DEFICIENCY | MOLECULAR-GENETICS | METACHROMATIC LEUKODYSTROPHY | ANTIGEN PRESENTATION | ISOGLOBOTRIHEXOSYLCERAMIDE | IMMUNOLOGY | METABOLISM | MOUSE MODEL | KILLER T-CELLS | MICE | KRABBE-DISEASE | Leukodystrophy, Metachromatic - immunology | Liver - pathology | Sandhoff Disease - pathology | Spleen - immunology | Cell Count | Male | Leukodystrophy, Globoid Cell - immunology | Liver - immunology | Lysosomal Storage Diseases - immunology | Multiple Sulfatase Deficiency Disease - pathology | Natural Killer T-Cells - pathology | Thymus Gland - pathology | Female | Spleen - pathology | Disease Models, Animal | Multiple Sulfatase Deficiency Disease - immunology | Mice, Inbred C57BL | Enzyme Inhibitors - pharmacology | Leukodystrophy, Globoid Cell - pathology | Lysosomal Storage Diseases - genetics | Sandhoff Disease - genetics | Mice, Inbred Strains | Receptor, Fibroblast Growth Factor, Type 1 - antagonists & inhibitors | Mice, Knockout | Multiple Sulfatase Deficiency Disease - genetics | Sandhoff Disease - immunology | Cell Differentiation - immunology | Leukodystrophy, Metachromatic - genetics | Lymphocytes - pathology | Mucopolysaccharidosis I - immunology | Pyrroles - pharmacology | Animals | Cell Differentiation - drug effects | Mucopolysaccharidosis I - genetics | Thymus Gland - immunology | Leukodystrophy, Globoid Cell - genetics | Mice | Natural Killer T-Cells - immunology | Index Medicus
Journal Article
Molecular Therapy, ISSN 1525-0016, 2006, Volume 13, Issue S1, pp. S342 - S342
  The Twitcher mouse (twi) is well known as a naturally occurring authentic mouse model of human globoid cell leukodystrophy (GLD), characterized by a stop... 
Journal Article
2009
Globoid cell leukodystrophy (GLD) is a rare lysosomal storage disorder (LSD) due to the deficiency of the lysosomal enzyme Galactocerebrosidase (GALC). The... 
Dissertation
Neurobiology of Disease, ISSN 0969-9961, 2009, Volume 34, Issue 1, pp. 51 - 62
Abstract Microglia activation and neuroinflammation play a pivotal role in the pathogenesis of lysosomal storage disorders (LSD) affecting the central nervous... 
Neurology | Peripheral benzodiazepine receptor ligands | Neuroinflammation | Lysosomal storage disorders | Positron emission tomography | Hematopoietic stem cell transplantation | Microglia | TWITCHER MOUSE | HEMATOPOIETIC-CELL TRANSPLANTATION | POTENTIAL RADIOLIGANDS | STORAGE DISEASES | BONE-MARROW-TRANSPLANTATION | METACHROMATIC LEUKODYSTROPHY | NEUROSCIENCES | PROTEIN 18 KDA | MULTIPLE-SCLEROSIS | CENTRAL-NERVOUS-SYSTEM | KRABBE-DISEASE | Isoquinolines - metabolism | Demyelinating Diseases - physiopathology | Brain - diagnostic imaging | Lysosomal Storage Diseases, Nervous System - physiopathology | Brain - physiopathology | Central Nervous System Diseases - diagnostic imaging | Hematopoietic Stem Cell Transplantation | Mice, Transgenic | Gliosis - physiopathology | Positron-Emission Tomography | Central Nervous System Diseases - therapy | Lysosomal Storage Diseases, Nervous System - therapy | Microscopy, Confocal | Animals | Microglia - physiology | Fluorescent Antibody Technique | Ligands | Mice | Receptors, GABA-A - metabolism | Lysosomal Storage Diseases, Nervous System - diagnostic imaging | Central Nervous System Diseases - physiopathology | Carbon Radioisotopes | Disease Models, Animal | Enzymes | Transplantation | Diagnostic imaging | Hematopoietic stem cells | Antitank weapons | Benzodiazepines | Index Medicus
Journal Article