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1. Full Text Mitochondria and quality control defects in a mouse model of gaucher disease - Links to parkinson's disease
by Osellame, Laura D and Rahim, Ahad A and Hargreaves, Iain P and Gegg, Matthew E and Richard-Londt, Angela and Brandner, Sebastian and Waddington, Simon N and Schapira, Anthony H.V and Duchen, Michael R
Cell Metabolism, ISSN 1550-4131, 06/2013, Volume 17, Issue 6, pp. 941 - 953
Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to... 
OXIDATIVE STRESS | PINK1 | INHIBITION | GENE | ENDOCRINOLOGY & METABOLISM | LYSOSOMAL STORAGE DISEASES | ALPHA-SYNUCLEIN | AUTOPHAGY | DYSFUNCTION | GLUCOCEREBROSIDASE MUTATIONS | COMPLEX-I DEFICIENCY | CELL BIOLOGY | Astrocytes - cytology | Mitochondrial Diseases - genetics | Electron Transport | Glucosylceramidase - genetics | Gaucher Disease - metabolism | Sequestosome-1 Protein | Heat-Shock Proteins - metabolism | Humans | Lysosomes - genetics | Cells, Cultured | Neurons - cytology | Mitochondria - metabolism | Parkinson Disease - genetics | Mice, Knockout | Animals | Gaucher Disease - genetics | Lysosomes - metabolism | Mitochondria - genetics | Mice | Parkinson Disease - metabolism | Autophagy - genetics | Adaptor Proteins, Signal Transducing - metabolism | alpha-Synuclein - metabolism | Disease Models, Animal | Proteins | High technology industry | Neurosciences | Developmental biology | Analysis | Quality control | Mitochondrial DNA
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2. Full Text Federal and private roles in the development and provision of alglucerase therapy for Gaucher disease
by Garber, Alan M and United States. Congress.Office of Technology Assessment
1992, Background paper, ISBN 0160381290
Orphan drugs | Orphan Drug Production | economics | Treatment | drug therapy | Pharmaceutical policy | United States | Glucosylceramidase | Gaucher Disease | therapeutic use | Gaucher's disease
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3. Full Text The relationship between glucocerebrosidase mutations and Parkinson disease
by Migdalska‐Richards, Anna and Schapira, Anthony H. V
Journal of Neurochemistry, ISSN 0022-3042, 10/2016, Volume 139, Issue S1, pp. 77 - 90
Parkinson disease (PD) is the second most common neurodegenerative disorder after Alzheimer disease, whereas Gaucher disease (GD) is the most frequent... 
Parkinson disease | alpha‐synuclein | Gaucher disease | glucocerebrosidase 1 (GBA1) | lysosome | mitochondria | alpha-synuclein | GENE-MUTATIONS | CHAPERONE-MEDIATED AUTOPHAGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | ACID-BETA-GLUCOSIDASE | COMPLEX I DEFICIENCY | ENDOPLASMIC-RETICULUM STRESS | NEUROSCIENCES | MUTANT GLUCOCEREBROSIDASE | SAPOSIN C DEFICIENCY | UNFOLDED PROTEIN RESPONSE | RISK-FACTOR | NEURONOPATHIC GAUCHER-DISEASE | Mitochondria - enzymology | Glucosylceramidase - genetics | Humans | Lysosomes - genetics | Lysosomes - enzymology | Glucosylceramidase - metabolism | Parkinson Disease - genetics | Mutation - genetics | Animals | Gaucher Disease - genetics | Mitochondria - genetics | Parkinson Disease - enzymology | Parkinson Disease - diagnosis | Autophagy - genetics | Gaucher Disease - diagnosis | Gaucher Disease - enzymology | Ubiquitin | Enzymes | Parkinson's disease | Hydrolases | Genetic aspects | Muscle proteins | Risk factors | Adenosine triphosphate | Mitochondria | Mutation | Endoplasmic reticulum | Parkinsons disease | Jörg B. Schulz and John Hardy | Review | Parkinson Disease. Guest Editors
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4. Full Text Selective molecular alterations in the autophagy pathway in patients with lewy body disease and in models of α-synucleinopathy
by Crews, Leslie and Spencer, Brian and Desplats, Paula and Patrick, Christina and Paulino, Amy and Rockenstein, Edward and Hansen, Lawrence and Adame, Anthony and Galasko, Douglas and Masliah, Eliezer
PLoS ONE, ISSN 1932-6203, 02/2010, Volume 5, Issue 2, p. e9313
Background: Lewy body disease is a heterogeneous group of neurodegenerative disorders characterized by alpha-synuclein accumulation that includes dementia with... 
WILD-TYPE | CHAPERONE-MEDIATED AUTOPHAGY | ALZHEIMERS-DISEASE | MOUSE MODEL | FRONTOTEMPORAL DEMENTIA | BIOLOGY | AGGREGATE-PRONE PROTEINS | NEURONAL EXPRESSION | PARKINSONS-DISEASE | TRANSGENIC MICE | GAUCHER-DISEASE | Pyramidal Cells - metabolism | Humans | Nerve Degeneration - genetics | Male | Autophagy | Nerve Degeneration - metabolism | Alzheimer Disease - pathology | Brain - metabolism | Lewy Body Disease - genetics | RNA Interference | Brain - ultrastructure | Aged, 80 and over | Female | alpha-Synuclein - genetics | Pyramidal Cells - ultrastructure | Disease Models, Animal | Cell Line | Ubiquitin-Activating Enzymes - genetics | Signal Transduction | Lewy Body Disease - pathology | Mice, Transgenic | Microscopy, Electron | Ubiquitin-Activating Enzymes - metabolism | Blotting, Western | Nerve Degeneration - pathology | Lewy Body Disease - metabolism | Microscopy, Confocal | Autophagy-Related Protein 7 | Animals | Alzheimer Disease - metabolism | Brain - pathology | Cell Line, Tumor | Pyramidal Cells - pathology | Aged | Mice | Alzheimer Disease - genetics | alpha-Synuclein - metabolism | TOR protein | Neurosciences | Animal models | Parkinson's disease | Pathogenesis | Toxicity | Parkinsons disease | Phagosomes | Nervous system | Synuclein | Neuromodulation | Accumulation | Modulators | Proteins | Infusion | Alterations | Neurodegeneration | Dementia disorders | Alzheimer's disease | Movement disorders | Enzymes | Neurodegenerative diseases | Neurons | Immunomodulation | Lewy body disease | Transgenic mice | Rapamycin | Patients | Lewy bodies | Studies | Pathology | Mutation | Alzheimers disease | Phagocytosis | Apoptosis | Dementia
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5. Gaucher disease
2007, ISBN 9780849338168, 528 p., [8] p. of plates
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6. Gaucher disease
: from lysosomal storage to immunopathology
by Aerts, Johannes M. F. G
2013, Macrophage heterogeneity and function : role in innate and adaptive immunity
Gaucher Disease | Macrophages | immunology | Gaucher's disease
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7. Full Text Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
by Neumann, Juliane and Bras, Jose and Deas, Emma and O'Sullivan, Sean S and Parkkinen, Laura and Lachmann, Robin H and Li, Abi and Holton, Janice and Guerreiro, Rita and Paudel, Reema and Segarane, Badmavady and Singleton, Andrew and Lees, Andrew and Hardy, John and Houlden, Henry and Revesz, Tamas and Wood, Nicholas W
Brain, ISSN 0006-8950, 7/2009, Volume 132, Issue 7, pp. 1783 - 1794
Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an... 
Parkinson's disease | neuropathology | GBA | Gaucher's disease | GENE-MUTATIONS | ASHKENAZI-JEWS | DIAGNOSIS | FREQUENCIES | VISUAL HALLUCINATIONS | LEWY BODY DISORDERS | NEUROSCIENCES | CLINICAL NEUROLOGY | GAUCHER-DISEASE | RISK-FACTOR | ASSOCIATION | ONSET | Glucosylceramidase - genetics | Parkinson Disease - pathology | Humans | Middle Aged | Risk Factors | Genotype | Male | Gaucher Disease - complications | Gaucher Disease - pathology | Parkinson Disease - genetics | DNA Mutational Analysis - methods | Phenotype | Gaucher Disease - genetics | Parkinson Disease - enzymology | Brain - pathology | Adult | Female | Aged | Mutation | Cohort Studies | Parkinson Disease - etiology | Original
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8. Full Text Gaucher disease
: January 1984 through January 1995, plus selected earlier citations : 594 citations
by Beratan, Marian E and Sidransky, Ellen and National Library of Medicine (U.S.). Reference Section
1995, Current bibliographies in medicine, Volume 95-1.
Glucosylceramidase | Gaucher Disease | Gaucher's disease
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9. Full Text Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry
by Elliott, Susan and Buroker, Norman and Cournoyer, Jason J and Potier, Anna M and Trometer, Joseph D and Elbin, Carole and Schermer, Mack J and Kantola, Jaana and Boyce, Aaron and Turecek, Frantisek and Gelb, Michael H and Scott, C. Ronald
Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2016, Volume 118, Issue 4, pp. 304 - 309
There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an... 
Pompe disease | Tandem mass spectrometry | Hurler disease | Gaucher disease | Lysosomal storage disorders | Krabbe disease | Niemann-Pick-A/B disease | Dried blood spot | Newborn screening | Fabry disease | MEDICINE, RESEARCH & EXPERIMENTAL | MUCOPOLYSACCHARIDOSIS-I | ASSAY | DISORDERS | CARDS | DRIED BLOOD SPOTS | RETROSPECTIVE DIAGNOSES | ENZYMES | FABRY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | FILTER-PAPER | ENZYMATIC DIAGNOSIS | Dried Blood Spot Testing | Glucosylceramidase - blood | Humans | Mucopolysaccharidosis I - physiopathology | Male | Gaucher Disease - blood | Neonatal Screening | Leukodystrophy, Globoid Cell - physiopathology | Tandem Mass Spectrometry | Fabry Disease - blood | Female | Gaucher Disease - physiopathology | Lysosomal Storage Diseases - blood | Galactosylceramidase - blood | Glycogen Storage Disease Type II - blood | Infant, Newborn | Lysosomal Storage Diseases - classification | Mucopolysaccharidosis I - blood | alpha-Glucosidases - blood | Niemann-Pick Diseases - blood | Lysosomal Storage Diseases - genetics | Enzyme Assays | Niemann-Pick Diseases - physiopathology | Lysosomal Storage Diseases - pathology | Glycogen Storage Disease Type II - physiopathology | alpha-Galactosidase - blood | Fabry Disease - physiopathology | Iduronidase - blood | Leukodystrophy, Globoid Cell - blood | Sphingomyelin Phosphodiesterase - blood | Medicine, Experimental | Medical research | Medical screening | Mass spectrometry | Niemann-Pick-A | B disease
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10. Full Text Acid β‐glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α‐synuclein processing
by Cullen, Valerie and Sardi, S. Pablo and Ng, Juliana and Xu, You‐Hai and Sun, Ying and Tomlinson, Julianna J and Kolodziej, Piotr and Kahn, Ilana and Saftig, Paul and Woulfe, John and Rochet, Jean‐Christophe and Glicksman, Marcie A and Cheng, Seng H and Grabowski, Gregory A and Shihabuddin, Lamya S and Schlossmacher, Michael G
Annals of Neurology, ISSN 0364-5134, 06/2011, Volume 69, Issue 6, pp. 940 - 953
Objective: Heterozygous mutations in the GBA1 gene elevate the risk of Parkinson disease and dementia with Lewy bodies; both disorders are characterized by... 
GENE-MUTATIONS | RISK-FACTOR | DISORDERS | MICE | AUTOPHAGY | GLUCOCEREBROSIDASE MUTATIONS | CATHEPSIN-D | EXPRESSION | NEUROSCIENCES | MOUSE MODELS | DEFICIENCY | CLINICAL NEUROLOGY | Enzyme-Linked Immunosorbent Assay - methods | Glucosylceramidase - genetics | Humans | Mutagenesis, Site-Directed - methods | Green Fluorescent Proteins - genetics | Dose-Response Relationship, Drug | Lewy Body Disease - genetics | Transfection | alpha-Synuclein - genetics | Immunosuppressive Agents - pharmacology | Disease Models, Animal | Cell Line | Gene Expression Regulation - genetics | Cathepsin D - deficiency | Rats | Parkinson Disease - genetics | Mutation - genetics | Sirolimus - pharmacology | Mice, Knockout | Gene Expression Regulation - drug effects | Animals | Gaucher Disease - genetics | Cathepsin D - genetics | Mice | alpha-Synuclein - metabolism
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11. Gaucher's disease
by Zimran, A
1997, Baillière's clinical haematology, ISBN 0702023787, Volume 10, no. 4., x, p. 621-846
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12. Full Text Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
by Mechtler, Thomas P, MD and Stary, Susanne, PhD and Metz, Thomas F, MSc and De Jesús, Víctor R, PhD and Greber-Platzer, Susanne, MD and Pollak, Arnold, Prof and Herkner, Kurt R, PhD and Streubel, Berthold, Prof and Kasper, David C, PhD
Lancet, The, ISSN 0140-6736, 2012, Volume 379, Issue 9813, pp. 335 - 341
Summary Background The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement... 
Internal Medicine | POMPE-DISEASE | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | THERAPY | ASSAY | METABOLISM | FABRY-DISEASE | TANDEM MASS-SPECTROMETRY | DRIED BLOOD SPOTS | KRABBE-DISEASE | INBORN-ERRORS | alpha-Galactosidase - genetics | Sphingomyelin Phosphodiesterase - genetics | Glucosylceramidase - genetics | Fabry Disease - genetics | Glucosylceramidase - blood | Humans | Male | Neonatal Screening | Incidence | Lysosomal Storage Diseases - diagnosis | Female | Niemann-Pick Diseases - diagnosis | Niemann-Pick Diseases - genetics | Infant, Newborn | alpha-Glucosidases - blood | Glycogen Storage Disease Type II - genetics | Lysosomal Storage Diseases - epidemiology | Austria - epidemiology | Lysosomal Storage Diseases - genetics | alpha-Galactosidase - blood | alpha-Glucosidases - genetics | Gaucher Disease - genetics | Glycogen Storage Disease Type II - diagnosis | Mutation | Fabry Disease - diagnosis | Gaucher Disease - diagnosis | Sphingomyelin Phosphodiesterase - blood | Metabolism, Inborn errors of | Infants (Newborn) | Usage | Medical examination | Diagnosis | Research | Babies | Quality control | Cystic fibrosis | Medical screening | Metabolism | Disease control | Blood | Metabolic disorders
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13. Full Text Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells
by McNeill, Alisdair and Magalhaes, Joana and Shen, Chengguo and Chau, Kai-Yin and Hughes, Derralyn and Mehta, Atul and Foltynie, Tom and Cooper, J. Mark and Abramov, Andrey Y and Gegg, Matthew and Schapira, Anthony H.V
Brain, ISSN 0006-8950, 5/2014, Volume 137, Issue 5, pp. 1481 - 1495
Heterozygous GBA gene mutations are the most frequent Parkinson’s disease risk factor. Using Parkinson’s disease patient derived fibroblasts McNeill et al.... 
Gaucher disease | Parkinson's disease | ambroxol | lysosome | glucocerebrosidase | MULTICENTER | NEUROSCIENCES | DEFICIENCY |