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The enigmatic link between glucocerebrosidase and parkinsonism: New pieces to the puzzle.
- Published in:
- Movement Disorders, 2011, v. 26, n. 10, p. 1803, doi. 10.1002/mds.23923
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- Publication type:
- Article
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.
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- Movement Disorders, 2009, v. 24, n. 11, p. 1571, doi. 10.1002/mds.22538
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- Publication type:
- Article
Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.
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- Movement Disorders, 2006, v. 21, n. 2, p. 282, doi. 10.1002/mds.20766
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- Publication type:
- Article
Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.
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- Human Genetics, 2000, v. 107, n. 4, p. 400, doi. 10.1007/s004390000380
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- Publication type:
- Article
An exploration of knowledge, risk perceptions, and communication in a family with multiple genetic risks for Parkinson's disease.
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- Journal of Genetic Counseling, 2023, v. 32, n. 3, p. 750, doi. 10.1002/jgc4.1677
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- Publication type:
- Article
A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.
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- Journal of Human Genetics, 2004, v. 49, n. 4, p. 220, doi. 10.1007/s10038-004-0134-7
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- Publication type:
- Article
The Role of Glucocerebrosidase Mutations in Parkinson Disease and Lewy Body Disorders.
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- Current Neurology & Neuroscience Reports, 2010, v. 10, n. 3, p. 190, doi. 10.1007/s11910-010-0102-x
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- Publication type:
- Article
Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations.
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- 2020
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- Publication type:
- journal article
A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 3, p. 1827, doi. 10.3390/ijms25031827
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- Publication type:
- Article
Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 10, p. 5842, doi. 10.3390/ijms23105842
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- Publication type:
- Article
Behavioral Phenotyping in a Murine Model of GBA1 -Associated Parkinson Disease.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6826, doi. 10.3390/ijms22136826
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- Publication type:
- Article
Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders.
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- Acta Neuropathologica, 2010, v. 120, n. 5, p. 641, doi. 10.1007/s00401-010-0741-7
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- Publication type:
- Article
Life-threatening splenic hemorrhage in two patients with Gaucher disease.
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- American Journal of Hematology, 2000, v. 64, n. 2, p. 140, doi. 10.1002/(SICI)1096-8652(200006)64:2<140::AID-AJH14>3.0.CO;2-T
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- Publication type:
- Article
Pathologic fractures may develop in gaucher patients receiving enzyme replacement therapy.
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- American Journal of Hematology, 1994, v. 47, n. 3, p. 247, doi. 10.1002/ajh.2830470325
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- Publication type:
- Article
Erythropoietin levels in gaucher patients.
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- American Journal of Hematology, 1992, v. 40, n. 2, p. 153, doi. 10.1002/ajh.2830400216
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- Publication type:
- Article
Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 7, p. 834, doi. 10.1002/mdc3.13031
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- Publication type:
- Article
First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L.
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- Movement Disorders Clinical Practice, 2019, v. 6, n. 3, p. 254, doi. 10.1002/mdc3.12743
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- Publication type:
- Article
The Spectrum of Neurological Manifestations Associated with Gaucher Disease.
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- Diseases, 2017, v. 5, n. 1, p. 10, doi. 10.3390/diseases5010010
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- Article
Diagnosing Gaucher disease.
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- Clinical Pediatrics, 1995, v. 34, n. 7, p. 365, doi. 10.1177/000992289503400705
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- Article
Hypernatremic Dehydration in Children with Severe Psychomotor Retardation.
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- Clinical Pediatrics, 1985, v. 24, n. 8, p. 440, doi. 10.1177/000992288502400804
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- Publication type:
- Article
Advancements in Viral Gene Therapy for Gaucher Disease.
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- Genes, 2024, v. 15, n. 3, p. 364, doi. 10.3390/genes15030364
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- Publication type:
- Article
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.
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- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 115, doi. 10.1038/ejhg.2012.105
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- Publication type:
- Article
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
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- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 505, doi. 10.1038/sj.ejhg.5200315
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- Publication type:
- Article
Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells.
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- Biochemical Journal, 2019, v. 476, n. 2, p. 261, doi. 10.1042/BCJ20180708
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- Publication type:
- Article
Next-Generation Sequencing Analysis of GBA1 : The Challenge of Detecting Complex Recombinant Alleles.
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- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.684067
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- Publication type:
- Article
Clinical heterogeneity among patients with Gaucher's disease.
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- JAMA: Journal of the American Medical Association, 1993, v. 269, n. 9, p. 1154, doi. 10.1001/jama.1993.03500090090038
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- Article
Selective Extraction and Effective Separation of Galactosylsphingosine (Psychosine) and Glucosylsphingosine from Other Glycosphingolipids in Pathological Tissue Samples.
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- Neurochemical Research, 2011, v. 36, n. 9, p. 1612, doi. 10.1007/s11064-010-0348-3
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- Publication type:
- Article
Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.
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- Journal of Neuroscience, 2016, v. 36, n. 29, p. 7693, doi. 10.1523/JNEUROSCI.0628-16.2016
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- Publication type:
- Article
A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.
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- Journal of Neuroscience, 2016, v. 38, n. 28, p. 7441, doi. 10.1523/JNEUROSCI.0636-16.2016
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- Article
Transvaginal chorionic villus sampling.
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- 1990
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- Publication type:
- journal article
Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease.
- Published in:
- 2011
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- Publication type:
- journal article
Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson’s disease.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1039214
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- Publication type:
- Article
High Throughput Screening for Small Molecule Therapy for Gaucher Disease Using Patient Tissue as the Source of Mutant Glucocerebrosidase.
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- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029861
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- Article
New glucocerebrosidase antibodies can advance research in the field of neurodegenerative disorders.
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- Neural Regeneration Research, 2025, v. 20, n. 4, p. 1085, doi. 10.4103/NRR.NRR-D-24-00131
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- Publication type:
- Article
Technological advances expand our knowledge of lysosomal dysfunction in neurodegeneration.
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- Neural Regeneration Research, 2023, v. 18, n. 3, p. 539, doi. 10.4103/1673-5374.346490
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- Article
A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide.
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- Analytical & Bioanalytical Chemistry, 2012, v. 402, n. 2, p. 731, doi. 10.1007/s00216-011-5496-z
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- Publication type:
- Article
Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase.
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- Analytical & Bioanalytical Chemistry, 2009, v. 394, n. 7, p. 1903, doi. 10.1007/s00216-009-2879-5
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- Article
Lyso-IP: Uncovering Pathogenic Mechanisms of Lysosomal Dysfunction.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 5, p. 616, doi. 10.3390/biom12050616
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- Publication type:
- Article
The Role of Exosomes in Lysosomal Storage Disorders.
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- Biomolecules (2218-273X), 2021, v. 11, n. 4, p. 576, doi. 10.3390/biom11040576
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- Publication type:
- Article
Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate Drugs.
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- Science Translational Medicine, 2014, v. 6, n. 240, p. 1, doi. 10.1126/scitranslmed.3008659
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- Publication type:
- Article
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-151
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- Publication type:
- Article
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
- Published in:
- 2013
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- Publication type:
- journal article
The definition of neuronopathic Gaucher disease.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1056, doi. 10.1002/jimd.12235
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- Publication type:
- Article
Glucocerebrosidase and its relevance to Parkinson disease.
- Published in:
- Molecular Neurodegeneration, 2019, v. 14, n. 1, p. N.PAG, doi. 10.1186/s13024-019-0336-2
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- Publication type:
- Article
Gaucher Disease and the Synucleinopathies.
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- Journal of Biomedicine & Biotechnology, 2006, p. 1, doi. 10.1155/JBB/2006/78549
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- Publication type:
- Article
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene ( GBA).
- Published in:
- 2008
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- Publication type:
- Other
Gaucher mutation N188S is associated with myoclonic epilepsy.
- Published in:
- Human Mutation, 2005, v. 26, n. 3, p. 271, doi. 10.1002/humu.20217
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- Publication type:
- Article
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
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- Human Mutation, 2000, v. 15, n. 2, p. 181, doi. 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S
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- Publication type:
- Article
DNA mutational analysis of type 1 and type 3 gaucher patients: How well do mutations predict phenotype?
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- Human Mutation, 1994, v. 3, n. 1, p. 25, doi. 10.1002/humu.1380030105
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- Publication type:
- Article
Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.
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- Stem Cells Translational Medicine, 2015, v. 4, n. 8, p. 878, doi. 10.5966/sctm.2014-0213
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- Publication type:
- Article