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Nature Biotechnology, ISSN 1087-0156, 12/2012, Volume 30, Issue 12, pp. 1225 - 1231
Lysosomal storage diseases are treated with human lysosomal enzymes produced in mammalian cells. Such enzyme therapeutics contain relatively low levels of... 
N-LINKED OLIGOSACCHARIDES | POMPE-DISEASE | YARROWIA-LIPOLYTICA | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MOUSE MODEL | STORAGE DISORDERS | ACID ALPHA-GLUCOSIDASE | PICHIA-PASTORIS | FABRY-DISEASE | SACCHAROMYCES-CEREVISIAE | MANNOSE 6-PHOSPHATE RECEPTORS | Biotechnology | Lysosomal Storage Diseases - enzymology | Glycoside Hydrolases - genetics | Humans | Lysosomes - enzymology | Molecular Sequence Data | Glycogen Storage Disease Type II - drug therapy | Pichia - enzymology | Glycogen Storage Disease Type II - enzymology | Arthrobacter - genetics | Biological Transport, Active | Lysosomal Storage Diseases - drug therapy | Glycoside Hydrolases - chemistry | Yarrowia - enzymology | Arthrobacter - enzymology | Yarrowia - genetics | Disease Models, Animal | Recombinant Proteins - metabolism | Mutagenesis, Site-Directed | Glycogen Storage Disease Type II - genetics | Bacterial Proteins - genetics | Catalytic Domain - genetics | Lysosomal Storage Diseases - genetics | Models, Molecular | Recombinant Proteins - genetics | Mice, Knockout | alpha-Glucosidases - genetics | Animals | Mannosephosphates - metabolism | alpha-Glucosidases - deficiency | Pichia - genetics | Bacterial Proteins - metabolism | Protein Conformation | Mice | Glycoside Hydrolases - metabolism | alpha-Glucosidases - metabolism | Physiological aspects | Lysosomes | Enzymes | Glycosidases | Bacteria | Biosynthesis | Biochemistry | Yeast | Metabolic disorders
Journal Article
Nature Communications, ISSN 2041-1723, 09/2014, Volume 5, Issue 1, p. 4691
Journal Article
Molecular Therapy, ISSN 1525-0016, 05/2017, Volume 25, Issue 5, pp. 1155 - 1162
Lysosomal storage disorders (LSDs) are a broad class of monogenic diseases with an overall incidence of 1:7,000 newborns, due to the defective activity of one... 
gene therapy | lysosomal enzymes | storage diseases | hematopoietic stem cells | lentiviral vectors | central nervous system | MEDICINE, RESEARCH & EXPERIMENTAL | HURLER-SYNDROME | BONE-MARROW-TRANSPLANTATION | METACHROMATIC LEUKODYSTROPHY | MUCOPOLYSACCHARIDOSIS TYPE-II | X-LINKED ADRENOLEUKODYSTROPHY | BLOOD-BRAIN-BARRIER | ENZYME-REPLACEMENT-THERAPY | LYSOSOMAL-ENZYME | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | A-DEFICIENT MICE | Hydrolases - genetics | Lysosomal Storage Diseases - enzymology | Humans | Brain Damage, Chronic - therapy | Brain Damage, Chronic - enzymology | Brain Damage, Chronic - genetics | Transplantation, Homologous | Lentivirus - metabolism | Lysosomes - metabolism | Lentivirus - genetics | Brain Damage, Chronic - pathology | Disease Models, Animal | Gene Expression | Lysosomal Storage Diseases - therapy | Genetic Vectors - chemistry | Genetic Vectors - metabolism | Hematopoietic Stem Cell Transplantation | Lysosomal Storage Diseases - genetics | Hematopoietic Stem Cells - metabolism | Hydrolases - deficiency | Lysosomal Storage Diseases - pathology | Enzyme Replacement Therapy - methods | Animals | Hematopoietic Stem Cells - cytology | Genetic Therapy - methods | Neonates | Brain | Enzymes | Disease | Clinical trials | Lysosomes | Lysosomal storage diseases | Lysergide | Medical screening | Patients | Hematopoietic stem cells | Hemopoiesis | Defects | Storage diseases | Proteins | Genotype & phenotype | Medical prognosis | Stem cells | Fibroblasts | Mutation | Gene therapy | Brain injury | Review
Journal Article
Clinical Chemistry, ISSN 0009-9147, 06/2017, Volume 63, Issue 6, pp. 1118 - 1126
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, p. e0125204
Objective Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also... 
BETA-GLUCOSIDASE-2 | DEMENTIA | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | ALPHA-SYNUCLEIN | PATHOLOGY | IDENTIFICATION | GLUCOCEREBROSIDASE MUTATIONS | BRAIN | SPORADIC PARKINSONS-DISEASE | GAUCHER-DISEASE | Glucosylceramidase - genetics | Demography | Lysosomal Storage Diseases - enzymology | Humans | Lewy Body Disease - complications | Lewy Body Disease - enzymology | Male | Genetic Variation | Lewy Body Disease - genetics | Ethnic Groups - genetics | Nervous System - pathology | Autopsy | Lipids - blood | Aged, 80 and over | Female | Lysosomal Storage Diseases - complications | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Reproducibility of Results | Lysosomal Storage Diseases - genetics | Mutation - genetics | Sequence Analysis, DNA | Brain - pathology | Heterozygote | Aged | Genetic research | Ceramides | Lipids | Alzheimer's disease | Analysis | Genes | Brain | Pediatrics | Parkinson's disease | Pathogenesis | Lysergic acid diethylamide | Parkinsons disease | Association analysis | Biology | Genomes | Lysergide | Sphingolipids | Epidemiology | Gene sequencing | Genetic analysis | Aging | Genetics | Bioindicators | Movement disorders | Public health | Autopsies | Biochemical analysis | Neurodegenerative diseases | Lewy body disease | Disease control | Lewy bodies | Carriers | Medicine | Pathology | Neurology | Brain research | Storage | Biomarkers | Mutation | Alzheimers disease
Journal Article
Journal Article
Cellular and Molecular Life Sciences, ISSN 1420-682X, 6/2014, Volume 71, Issue 11, pp. 2017 - 2032
The ubiquitous distribution of lysosomes and their heterogeneous protein composition reflects the versatility of these organelles in maintaining cell... 
Life Sciences | Biochemistry, general | Protective protein/cathepsin A (PPCA) | Sialic acid | Elastin-binding protein (EBP) | Life Sciences, general | Neuraminidase 1 (NEU1) | Lysosomal exocytosis | β-Galactosidase (β-GAL) | Biomedicine general | Cell Biology | CATHEPSIN-A | CHAPERONE-MEDIATED AUTOPHAGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | PLASMA-MEMBRANE | CELL BIOLOGY | beta-Galactosidase (beta-GAL) | HUMAN PROTECTIVE PROTEIN | ACID BETA-GALACTOSIDASE | GM1 GANGLIOSIDOSIS | MOUSE MODEL | ENDOPLASMIC-RETICULUM | ENZYME REPLACEMENT THERAPY | MEMBRANE-ASSOCIATED SIALIDASE | Lysosomal Storage Diseases - enzymology | Humans | Lysosomes - genetics | Lysosomes - enzymology | Multienzyme Complexes - metabolism | Neuraminidase - genetics | Gangliosidosis, GM1 - genetics | Cathepsin A - genetics | beta-Galactosidase - metabolism | Cathepsin A - metabolism | Lysosomes - pathology | Gangliosidosis, GM1 - enzymology | Disease Models, Animal | Mucolipidoses - enzymology | Signal Transduction | Gene Expression Regulation | Lysosomal Storage Diseases - genetics | Neuraminidase - metabolism | Gangliosidosis, GM1 - pathology | Mucolipidoses - genetics | Multienzyme Complexes - genetics | Lysosomal Storage Diseases - pathology | Mice, Knockout | Mucolipidoses - pathology | Animals | Mice | beta-Galactosidase - genetics | Enzymes | Hydrolases | Gangliosides | Elastin | Organic acids | Protein binding | Cellular biology | Metabolic disorders | Protective Protein | lysosomal exocytosis | Cathepsin A (PPCA) | sialic acid | elastin binding protein (EBP)
Journal Article