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PLoS ONE, ISSN 1932-6203, 04/2012, Volume 7, Issue 4, p. e35787
Mucopolysaccharide diseases (MPS) are caused by deficiency of glycosaminoglycan (GAG) degrading enzymes, leading to GAG accumulation. Neurodegenerative MPS... 
TARGETED DISRUPTION | MICROGLIAL ACTIVATION | SANFILIPPO-SYNDROME | DISEASE | BIOLOGY | SYNDROME TYPE-B | MICE | HEPARAN-SULFATE PROTEOGLYCANS | LYSOSOMAL STORAGE DISORDERS | ALPHA-L-IDURONIDASE | BRAIN | Immunohistochemistry | Neurons - pathology | Mucopolysaccharidosis III - pathology | Male | Parietal Lobe - metabolism | Heparitin Sulfate - metabolism | Somatosensory Cortex - pathology | Lysosomes - metabolism | Homer Scaffolding Proteins | Mucopolysaccharidosis III - metabolism | Female | Lysosomes - pathology | Neurons - metabolism | G(M2) Ganglioside - biosynthesis | Disease Models, Animal | Glycosaminoglycans - biosynthesis | Mucopolysaccharidosis I - metabolism | Mucopolysaccharidosis I - pathology | Carrier Proteins - biosynthesis | Disease Progression | Parietal Lobe - pathology | Animals | Vesicle-Associated Membrane Protein 2 - biosynthesis | Mice | Cytokines - biosynthesis | Somatosensory Cortex - metabolism | Enzymes | Brain | Neurons | Analysis | Models | Gangliosides | Animal models | Gangliosidosis | Transplants & implants | Disease | Neuropathology | Genes | Cognitive ability | Ganglioside GM2 | Schizophrenia | Cortex (somatosensory) | Mucopolysaccharidosis | Cortex (motor) | Proteins | Blood-brain barrier | Neurodegeneration | Cortex (parietal) | Rodents | Fibroblasts | Bone marrow | Growth factors | Genotypes | Heparan sulfate | Synaptophysin | Inflammation | Electron microscopy | Sulfation | Membrane proteins | Pathology | Axons | Gliosis | Hospitals | Transmission electron microscopy | Acids | Life span | Cell number | Stem cells | Monocyte chemoattractant protein 1
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 09/2011, Volume 20, Issue 18, pp. 3653 - 3666
By providing access to affected neurons, human induced pluripotent stem cells (iPSc) offer a unique opportunity to model human neurodegenerative diseases. We... 
MANNOSE 6-PHOSPHATE | DEFINED FACTORS | HUMAN-FIBROBLASTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | SYNDROME TYPE-B | STORAGE DISORDERS | GOLGI-APPARATUS | MUCOPOLYSACCHARIDOSIS IIIB | HEPARAN-SULFATE PROTEOGLYCANS | ALPHA-N-ACETYLGLUCOSAMINIDASE | Fibroblasts - enzymology | Cell Proliferation | Humans | Child, Preschool | Lysosomes - enzymology | Male | Neurons - cytology | Acetylglucosaminidase - genetics | Lysosomes - metabolism | Acetylglucosaminidase - metabolism | Mucopolysaccharidosis III - metabolism | Female | Cell Differentiation | Neurons - metabolism | Induced Pluripotent Stem Cells - cytology | Child | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Mucopolysaccharidosis III - physiopathology | Induced Pluripotent Stem Cells - enzymology | Mucopolysaccharidosis III - genetics | Cells, Cultured | Mucopolysaccharidosis III - enzymology | Heparan Sulfate Proteoglycans - metabolism | Models, Biological | Neurons - enzymology | Fibroblasts - cytology | Mutation | Heparan sulfate | Enzymes | Fibroblast growth factor | lysosomal storage diseases | Proteoglycans | Neurodegenerative diseases | Axonogenesis | Neurons | Central nervous system | Mucopolysaccharidosis | Gene expression | Golgi apparatus | alpha -N- double prime Acetylglucosaminidase | Stem cells | Fibroblasts | Children | Cell migration | Golgi cells | Inhibitory postsynaptic potentials
Journal Article
Journal Article
Journal of Translational Medicine, ISSN 1479-5876, 09/2018, Volume 16, Issue 1, pp. 248 - 14
Background: Metabolomics represent a valuable tool to recover biological information using body fluids and may help to characterize pathophysiological... 
Metabolomics | Lysosomal storage diseases | Mucopolysaccharidosis type III | Inborn errors of metabolism | Ion mobility | Mass spectrometry | MEDICINE, RESEARCH & EXPERIMENTAL | SANFILIPPO-SYNDROME | LYSOSOMAL STORAGE | SYNDROME TYPE-A | NATURAL-HISTORY | MASS-SPECTROMETRY | DISEASES | THERAPY | SYSTEMS | SPECTRUM | MPS-IIIA | Multivariate Analysis | Mucopolysaccharidosis III - urine | Humans | Middle Aged | Child, Preschool | Infant | Male | Young Adult | Tandem Mass Spectrometry | Mucopolysaccharidosis III - metabolism | Chromatography, Liquid | Adult | Female | Child | Biomarkers - metabolism | Amino Acids - urine | Gene Expression Regulation | Metabolomics - methods | Urinalysis - methods | Algorithms | Metabolic Networks and Pathways | Adolescent | ROC Curve | Aged | Cluster Analysis | Mucopolysaccharidosis | Genetic aspects | Research | Metabolites | Analysis | Disease | Ionic mobility | Proline | Amino acids | Remodeling | Multivariate analysis | Autophagy | Pathways | Arginine | Bioindicators | Urine | Spectroscopy | Enzymes | Data analysis | Computational fluid dynamics | Lysergic acid diethylamide--LSD | Data processing | Mass spectroscopy | Liquid chromatography | Metabolism | High-performance liquid chromatography | Patients | Chromatography | Body fluids | Urea | Biomarkers | Scientific imaging | Metabolic pathways | Metabolic disorders | High performance liquid chromatography | Life Sciences
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2016, Volume 119, Issue 3, pp. 239 - 248
Journal Article
Molecular Therapy, ISSN 1525-0016, 10/2013, Volume 21, Issue 10, pp. 1938 - 1949
Journal Article
Journal Article