Glucocerebrosidase and Parkinson disease: Recent advances (Q27005669)

Crossref

language of work or name

1 reference

May 2015

1 reference

Molecular and Cellular Neuroscience

published in

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volume

66

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issue

Pt A

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page(s)

37-42

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Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease

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Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells

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Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

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Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation

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Glucocerebrosidase depletion enhances cell-to-cell transmission of α-synuclein

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28 September 2017

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Visual short-term memory deficits associated with GBA mutation and Parkinson's disease

28 September 2017

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Glucocerebrosidase mutations and the pathogenesis of Parkinson disease

28 September 2017

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Identification and rescue of α-synuclein toxicity in Parkinson patient-derived neurons

28 September 2017

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Therapeutic prospects for Parkinson disease

28 September 2017

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Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis

28 September 2017

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Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation

28 September 2017

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Retinal thinning in Gaucher disease patients and carriers: results of a pilot study

28 September 2017

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A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

28 September 2017

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Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease

28 September 2017

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Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies

28 September 2017

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Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity.

28 September 2017

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The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

28 September 2017

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Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

28 September 2017

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Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

28 September 2017

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Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

28 September 2017

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Lysosome-dependent pathways as a unifying theme in Parkinson's disease.

28 September 2017

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The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow

28 September 2017

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Hyposmia and cognitive impairment in Gaucher disease patients and carriers

28 September 2017

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CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

28 September 2017

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Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases

28 September 2017

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Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing.

28 September 2017

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Lysosomal dysfunction increases exosome-mediated alpha-synuclein release and transmission.

28 September 2017

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Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders

28 September 2017

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Alpha-synuclein delays endoplasmic reticulum (ER)-to-Golgi transport in mammalian cells by antagonizing ER/Golgi SNAREs

28 September 2017

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Association of glucocerebrosidase mutations with dementia with lewy bodies

28 September 2017

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Mutations for Gaucher disease confer high susceptibility to Parkinson disease

28 September 2017

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Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy

28 September 2017

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Phenotype, diagnosis, and treatment of Gaucher's disease

28 September 2017

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The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations

28 September 2017

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Chemical and biological approaches synergize to ameliorate protein-folding diseases.

28 September 2017

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Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders

28 September 2017

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Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

28 September 2017

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Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

28 September 2017

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The human glucocerebrosidase gene and pseudogene: structure and evolution

28 September 2017

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Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

28 September 2017

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A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers

31 May 2018

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Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

31 May 2018

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iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis.

31 May 2018

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Calcium dysregulation in Parkinson's disease

28 November 2018

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No association of GBA mutations and multiple system atrophy.

28 November 2018

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Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort.

28 November 2018

1 reference

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Direct mobilisation of lysosomal Ca2+ triggers complex Ca2+ signals

28 November 2018

1 reference

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Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism.

28 November 2018

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Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.

28 November 2018

1 reference

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Neuropathology provides clues to the pathophysiology of Gaucher disease

28 November 2018

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Glucocerebrosidase mutations in a Serbian Parkinson's disease population

28 November 2018

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12 December 2020

Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients

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12 December 2020

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization

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12 December 2020

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

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12 December 2020

Etiology and pathogenesis of Parkinson's disease

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12 December 2020

Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease

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12 December 2020

Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan

1 reference

12 December 2020