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Science (American Association for the Advancement of Science), ISSN 0036-8075, 09/2017, Volume 357, Issue 6357, pp. 1255 - 1261
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Mitochondria - enzymology | Mesencephalon - metabolism | Humans | Protein Deglycase DJ-1 - genetics | Substantia Nigra - metabolism | Melanins - metabolism | Glucosylceramidase - deficiency | Lysosomes - metabolism | Dopaminergic Neurons - metabolism | Tacrolimus - pharmacology | Parkinson Disease - metabolism | Dopamine - metabolism | Disease Models, Animal | Substantia Nigra - enzymology | Cell Line | Calcineurin Inhibitors - pharmacology | Oxidation-Reduction | Mesencephalon - enzymology | Mitochondria - metabolism | Antioxidants - pharmacology | Mitochondria - drug effects | Parkinson Disease - genetics | Mice, Knockout | Animals | Parkinson Disease - enzymology | Mice | Oxidative Stress - drug effects | alpha-Synuclein - metabolism | Oxidation-reduction reaction | Development and progression | Mitochondria | Dopamine | Parkinson's disease | Health aspects | Brain | Energy metabolism | Animal models | Target recognition | Mesencephalon | Pathogenesis | Substantia nigra | Parkinsons disease | Lysosomes | Synuclein | Accumulation | Pathways | Enzymatic activity | Neurodegeneration | Rodents | Oxidation | Degeneration | Species | Movement disorders | Dopamine receptors | Neurodegenerative diseases | Neurons | Medical treatment | Metabolism | Patients | Glucosylceramidase | Index Medicus
Journal Article
Nature (London), ISSN 0028-0836, 11/2016, Volume 539, Issue 7628, pp. 207 - 216
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Parkinson Disease - therapy | Inflammation - pathology | Neurons - pathology | Prions - metabolism | Glucosylceramidase - genetics | Parkinson Disease - pathology | Synaptic Vesicles - metabolism | Humans | Glucosylceramidase - metabolism | Parkinson Disease - genetics | Molecular Targeted Therapy | Endocytosis | Inflammation - metabolism | Animals | Lysosomes - metabolism | Models, Biological | Biological Transport - genetics | Neurons - metabolism | Parkinson Disease - metabolism | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 - metabolism | alpha-Synuclein - metabolism | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 - genetics | Development and progression | Genetic aspects | Parkinson's disease | Proteins | Pathology | Dopamine | Pathogenesis | Neurons | Genes | Parkinsons disease | Genetics | Genomes | Mutation | Kinases | Index Medicus
Journal Article
Blood, ISSN 0006-4971, 2009, Volume 114, Issue 15, pp. 3181 - 3190
Life Sciences & Biomedicine | Hematology | Science & Technology | Hematologic and hematopoietic diseases | Errors of metabolism | Biological and medical sciences | Metabolic diseases | Medical sciences | Lipids (lysosomal enzyme disorders, storage diseases) | Interleukin-8 - genetics | Glucosylceramidase - genetics | Dinoprostone - biosynthesis | Stromal Cells - pathology | Humans | Middle Aged | Male | Gaucher Disease - pathology | Mutation, Missense | Cholesterol - genetics | Cyclooxygenase 2 - biosynthesis | Lysosomes - metabolism | Cyclooxygenase 2 - genetics | Inflammation Mediators - metabolism | Female | Lysosomes - pathology | Chemokine CCL2 - metabolism | Interleukin-8 - metabolism | Glucosylceramides - genetics | Inositol - pharmacology | Gaucher Disease - metabolism | Osteocytes - metabolism | Dinoprostone - genetics | Interleukin-8 - biosynthesis | Stromal Cells - metabolism | Bone Marrow Cells - pathology | Cells, Cultured | Enzyme Inhibitors - pharmacology | Chemokine CCL2 - genetics | Up-Regulation - genetics | Glucosylceramidase - metabolism | Cholesterol - metabolism | Inositol - analogs & derivatives | Adipocytes - pathology | Glucosylceramidase - antagonists & inhibitors | Dinoprostone - metabolism | Up-Regulation - drug effects | Gaucher Disease - genetics | Cell Differentiation - drug effects | Adipocytes - metabolism | Cyclooxygenase 2 - metabolism | Chemokine CCL2 - biosynthesis | Osteocytes - pathology | Glucosylceramides - metabolism | Bone Marrow Cells - metabolism | Amino Acid Substitution | Index Medicus | Abridged Index Medicus | Hematopoiesis and Stem Cells
Journal Article
The Journal of neuroscience, ISSN 0270-6474, 07/2016, Volume 36, Issue 29, pp. 7693 - 7706
Lysosomes | Glucocerebrosidase | Induced pluripotent stem cells | Synucleinopathy | Parkinson’s disease | α-synuclein | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurodegenerative Diseases - etiology | Humans | Dopaminergic Neurons - ultrastructure | Subcellular Fractions - pathology | Proton-Translocating ATPases - metabolism | Cell Differentiation - genetics | Lysosomes - metabolism | Dopaminergic Neurons - metabolism | Dopaminergic Neurons - drug effects | Neuroblastoma - pathology | Mesencephalon - pathology | Synaptophysin - metabolism | Parkinson Disease - pathology | Neurodegenerative Diseases - pathology | Gene Expression Regulation - genetics | Enzyme Inhibitors - pharmacology | Glucosylceramidase - metabolism | Neurodegenerative Diseases - metabolism | Mutation - genetics | Subcellular Fractions - metabolism | Gene Expression Regulation - drug effects | Cell Differentiation - drug effects | Cell Line, Tumor | Induced Pluripotent Stem Cells | alpha-Synuclein - metabolism | Lysosomal-Associated Membrane Protein 2 - metabolism | Index Medicus | synucleinopathy | induced pluripotent stem cells | lysosomes | Parkinson's disease | glucocerebrosidase
Journal Article
Stem cell reports, ISSN 2213-6711, 03/2016, Volume 6, Issue 3, pp. 342 - 356
Exosomes - metabolism | Cell Line | Glucosylceramidase - genetics | Parkinson Disease - pathology | Humans | Cells, Cultured | Mutation, Missense | Parkinson Disease - genetics | Autophagy | Neurogenesis | Dopaminergic Neurons - cytology | Animals | Lysosomes - metabolism | Dopaminergic Neurons - metabolism | Endoplasmic Reticulum Stress | Mice | Parkinson Disease - metabolism | Induced Pluripotent Stem Cells - cytology | alpha-Synuclein - metabolism | Induced Pluripotent Stem Cells - metabolism | Index Medicus
Journal Article
Journal of investigative dermatology, ISSN 0022-202X, 05/2014, Volume 134, Issue 5, pp. 1238 - 1245
Life Sciences & Biomedicine | Dermatology | Science & Technology | Epidermis - metabolism | Epidermis - pathology | Ceramides - metabolism | Netherton Syndrome - metabolism | Humans | Male | Dermatitis, Atopic - pathology | Glucosylceramidase - metabolism | Netherton Syndrome - pathology | Fatty Acids, Unsaturated - metabolism | Young Adult | Body Water - metabolism | Fatty Acids, Nonesterified - metabolism | Glucosyltransferases - metabolism | Sphingomyelin Phosphodiesterase - metabolism | Adolescent | Adult | Female | Child | Dermatitis, Atopic - metabolism | Fatty Acids - metabolism | Index Medicus
Journal Article
Cell (Cambridge), ISSN 0092-8674, 2007, Volume 131, Issue 4, pp. 770 - 783
CELLBIO | HUMDISEASE | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Glucosylceramidase - genetics | CD36 Antigens - genetics | Mannosephosphates - genetics | Humans | Endoplasmic Reticulum - metabolism | Molecular Sequence Data | Lysosomes - metabolism | CD36 Antigens - metabolism | Fibroblasts - metabolism | Recombinant Proteins - metabolism | Amino Acid Sequence | Cell Line | Lysosome-Associated Membrane Glycoproteins - metabolism | Gaucher Disease - metabolism | Protein Structure, Secondary | Glucosylceramidase - metabolism | Recombinant Proteins - genetics | Macrophages - cytology | Protein Transport | Macrophages - metabolism | Sequence Alignment | Animals | Mannosephosphates - metabolism | Lysosome-Associated Membrane Glycoproteins - genetics | Protein Binding | Fibroblasts - cytology | Mice | Index Medicus
Journal Article
Biochimica et biophysica acta. Molecular basis of disease, ISSN 0925-4439, 10/2020, Volume 1866, Issue 10, pp. 165875 - 165875
Gaucher | Lysosome | c-Abl | Sphingolipids | Lysosomal storage disease | Cholesterol | Niemann-Pick | Biochemistry & Molecular Biology | Biophysics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Neurons - pathology | Glucosylceramidase - genetics | Vesicular Transport Proteins - metabolism | Humans | Neurons - cytology | Intracellular Signaling Peptides and Proteins - metabolism | Gaucher Disease - pathology | Niemann-Pick Disease, Type C - pathology | Niemann-Pick Disease, Type C - metabolism | Brain - metabolism | Lysosomes - metabolism | Lipid Metabolism - genetics | Lysosomes - pathology | Neurons - metabolism | Niemann-Pick Disease, Type A - genetics | Intracellular Signaling Peptides and Proteins - genetics | Brain - cytology | Gaucher Disease - metabolism | Vesicular Transport Proteins - genetics | Sphingolipids - metabolism | Glucosylceramidase - metabolism | Signal Transduction - genetics | Cholesterol - metabolism | Gaucher Disease - genetics | Niemann-Pick Disease, Type A - metabolism | Brain - pathology | Niemann-Pick Disease, Type A - pathology | Mutation | Niemann-Pick Disease, Type C - genetics | Index Medicus
Journal Article