标题
The relationship between glucocerebrosidase mutations and Parkinson disease
作者
关键词
-
出版物
JOURNAL OF NEUROCHEMISTRY
Volume 139, Issue -, Pages 77-90
出版商
Wiley
发表日期
2016-02-10
DOI
10.1111/jnc.13385
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- No evidence for substrate accumulation in Parkinson brains withGBAmutations
- (2015) Matthew E. Gegg et al. MOVEMENT DISORDERS
- Evolution of Prodromal Clinical Markers of Parkinson Disease in aGBAMutation–Positive Cohort
- (2015) Michelle Beavan et al. JAMA Neurology
- Gaucher Disease and Its Treatment Options
- (2014) Lunawati L. Bennett et al. ANNALS OF PHARMACOTHERAPY
- Visual short-term memory deficits associated with GBA mutation and Parkinson’s disease
- (2014) Nahid Zokaei et al. BRAIN
- Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells
- (2014) Alisdair McNeill et al. BRAIN
- Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice
- (2014) You-hai Xu et al. HUMAN MOLECULAR GENETICS
- Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson’s disease
- (2014) Zhe Yu et al. JOURNAL OF HUMAN GENETICS
- A GCase Chaperone Improves Motor Function in a Mouse Model of Synucleinopathy
- (2014) Franziska Richter et al. Neurotherapeutics
- Glucocerebrosidase mutations in primary parkinsonism
- (2014) Rosanna Asselta et al. PARKINSONISM & RELATED DISORDERS
- Glucocerebrosidase mutations in Thai patients with Parkinson's disease
- (2014) Teeratorn Pulkes et al. PARKINSONISM & RELATED DISORDERS
- Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease
- (2013) Angela Sanders et al. BLOOD CELLS MOLECULES AND DISEASES
- Glucocerebrosidase mutations influence the natural history of Parkinson’s disease in a community-based incident cohort
- (2013) Sophie E. Winder-Rhodes et al. BRAIN
- Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease
- (2013) Laura D. Osellame et al. Cell Metabolism
- Association of Common Variants in the Glucocerebrosidase Gene with High Susceptibility to Parkinson's Disease among Chinese
- (2013) Xiong Zhang CHINESE JOURNAL OF PHYSIOLOGY
- The L444PGBAmutation is associated with early-onset Parkinson's disease in Mexican Mestizos
- (2013) M de L González-del Rincón et al. CLINICAL GENETICS
- The Association Between ß-Glucocerebrosidase Mutations and Parkinsonism
- (2013) Matthew Swan et al. Current Neurology and Neuroscience Reports
- Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study
- (2013) Alisdair McNeill et al. MOLECULAR GENETICS AND METABOLISM
- Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation
- (2013) Aikaterina Angeli et al. MOVEMENT DISORDERS
- Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells
- (2013) Georgia Dermentzaki et al. PLoS One
- Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis
- (2013) Alisdair McNeill et al. PLoS One
- Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease: Fig. 1.
- (2013) Anthony H. V. Schapira et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies
- (2013) S. Pablo Sardi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains
- (2012) Matthew E. Gegg et al. ANNALS OF NEUROLOGY
- Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase
- (2012) Inna Bendikov-Bar et al. BLOOD CELLS MOLECULES AND DISEASES
- The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow
- (2012) Ozlem Goker-Alpan et al. BRAIN
- The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice
- (2012) Zhuo Luan et al. BRAIN & DEVELOPMENT
- Glucocerebrosidasemutations in a Serbian Parkinson's disease population
- (2012) K. R. Kumar et al. EUROPEAN JOURNAL OF NEUROLOGY
- Discovery, Structure–Activity Relationship, and Biological Evaluation of Noninhibitory Small Molecule Chaperones of Glucocerebrosidase
- (2012) Samarjit Patnaik et al. JOURNAL OF MEDICINAL CHEMISTRY
- A clinical and family history study of Parkinson's disease in heterozygousglucocerebrosidasemutation carriers
- (2012) Alisdair McNeill et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- The link between the GBA gene and parkinsonism
- (2012) Ellen Sidransky et al. LANCET NEUROLOGY
- Two phosphatidylinositol 4-kinases control lysosomal delivery of the Gaucher disease enzyme, β-glucocerebrosidase
- (2012) Marko Jović et al. MOLECULAR BIOLOGY OF THE CELL
- Hyposmia and cognitive impairment in Gaucher disease patients and carriers
- (2012) Alisdair McNeill et al. MOVEMENT DISORDERS
- Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage
- (2012) Michael W.J. Cleeter et al. NEUROCHEMISTRY INTERNATIONAL
- Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population
- (2012) Jung Mi Choi et al. NEUROSCIENCE LETTERS
- Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing
- (2011) Valerie Cullen et al. ANNALS OF NEUROLOGY
- Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies
- (2011) Joseph R. Mazzulli et al. CELL
- Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson’s disease in Taiwan
- (2011) C.-L. Huang et al. EUROPEAN JOURNAL OF NEUROLOGY
- α-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher Diseases
- (2011) Thai Leong Yap et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Sphingolipid Storage Affects Autophagic Metabolism of the Amyloid Precursor Protein and Promotes A Generation
- (2011) I. Y. Tamboli et al. JOURNAL OF NEUROSCIENCE
- β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease
- (2011) Marina Moraitou et al. MOLECULAR GENETICS AND METABOLISM
- Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia
- (2011) Anton Emelyanov et al. MOVEMENT DISORDERS
- Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course
- (2011) Núria Setó-Salvia et al. MOVEMENT DISORDERS
- GBA-associated PD presents with nonmotor characteristics
- (2011) K. Brockmann et al. NEUROLOGY
- Exploring the link between glucocerebrosidase mutations and parkinsonism
- (2011) Wendy Westbroek et al. TRENDS IN MOLECULAR MEDICINE
- Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders
- (2010) Ozlem Goker-Alpan et al. ACTA NEUROPATHOLOGICA
- Chaperone-Mediated Autophagy Markers in Parkinson Disease Brains
- (2010) Lydia Alvarez-Erviti et al. ARCHIVES OF NEUROLOGY
- Lysosomal membrane permeabilization in Parkinson disease
- (2010) Miquel Vila et al. Autophagy
- Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant
- (2010) Inna Bendikov-Bar et al. BLOOD CELLS MOLECULES AND DISEASES
- Association of the glucocerebrosidase N370S allele with Parkinson’s disease in two separate Chinese Han populations of mainland China
- (2010) F.-Y. Hu et al. EUROPEAN JOURNAL OF NEUROLOGY
- Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting
- (2010) A. M. Vaccaro et al. HUMAN MOLECULAR GENETICS
- Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits
- (2010) Y. Sun et al. HUMAN MOLECULAR GENETICS
- Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease
- (2010) I. Ron et al. HUMAN MOLECULAR GENETICS
- Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease
- (2010) Suzanne Lesage et al. HUMAN MOLECULAR GENETICS
- The risk of Parkinson’s disease in type 1 Gaucher disease
- (2010) Gilberto Bultron et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Pathogenic Lysosomal Depletion in Parkinson's Disease
- (2010) B. Dehay et al. JOURNAL OF NEUROSCIENCE
- Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population
- (2010) Qi-Ying Sun et al. MOVEMENT DISORDERS
- Molecular and clinical prodrome of Parkinson disease: implications for treatment
- (2010) Anthony H. V. Schapira et al. Nature Reviews Neurology
- Association of Glucocerebrosidase Mutations With Dementia With Lewy Bodies
- (2009) Lorraine N. Clark et al. ARCHIVES OF NEUROLOGY
- Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
- (2009) Juliane Neumann et al. BRAIN
- Parkinson's disease: from monogenic forms to genetic susceptibility factors
- (2009) S. Lesage et al. HUMAN MOLECULAR GENETICS
- No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease
- (2009) T. Farfel-Becker et al. HUMAN MOLECULAR GENETICS
- Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease
- (2009) Gustavo H. B. Maegawa et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Alterations in lysosomal and proteasomal markers in Parkinson's disease: Relationship to alpha-synuclein inclusions
- (2009) Yaping Chu et al. NEUROBIOLOGY OF DISEASE
- Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece
- (2009) Kallirhoe Kalinderi et al. NEUROSCIENCE LETTERS
- Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China
- (2009) X.-Y. Mao et al. NEUROSCIENCE LETTERS
- Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: A biological link between Gaucher disease and parkinsonism
- (2009) Amy B. Manning-Boğ et al. NEUROTOXICOLOGY
- Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
- (2009) E. Sidransky et al. NEW ENGLAND JOURNAL OF MEDICINE
- Abberant α-Synuclein Confers Toxicity to Neurons in Part through Inhibition of Chaperone-Mediated Autophagy
- (2009) Maria Xilouri et al. PLoS One
- Glucocerebrosidase Gene Mutations
- (2008) Ignacio F. Mata et al. ARCHIVES OF NEUROLOGY
- The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations
- (2008) Ozlem Goker-Alpan et al. ARCHIVES OF NEUROLOGY
- Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
- (2008) Kathleen S. Hruska et al. HUMAN MUTATION
- Phenotype, diagnosis, and treatment of Gaucher's disease
- (2008) Gregory A Grabowski LANCET
- Mitochondria in the aetiology and pathogenesis of Parkinson's disease
- (2008) Anthony HV Schapira LANCET NEUROLOGY
- Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset
- (2008) Z. Gan-Or et al. NEUROLOGY
- Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy
- (2007) Elvira V. De Marco et al. MOVEMENT DISORDERS
- Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal
- (2007) Jose Bras et al. NEUROBIOLOGY OF AGING
- Association between Parkinson's disease and glucocerebrosidase mutations in Brazil
- (2007) Mariana Spitz et al. PARKINSONISM & RELATED DISORDERS
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