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A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease

Neurobiology of disease, 2020-02, Vol.134, p.104647-104647, Article 104647

2020

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Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs

Science translational medicine, 2014-06, Vol.6 (240), p.240ra73

2014

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Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

Proceedings of the National Academy of Sciences - PNAS, 2012-10, Vol.109 (44), p.18054-18059

2012

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A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism

The Journal of neuroscience, 2016-07, Vol.36 (28), p.7441-7452

2016

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

Acta neuropathologica, 2010-11, Vol.120 (5), p.641-649

2010

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EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review

Molecular genetics and metabolism, 2020-11, Vol.131 (3), p.358-363

2020

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Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease

American journal of human genetics, 2003-03, Vol.72 (3), p.519-534

2003

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Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease

Molecular genetics and metabolism, 2018-09, Vol.125 (1-2), p.1-3

2018

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DNA Targeting of Rhinal Cortex D2 Receptor Protein Reversibly Blocks Learning of Cues That Predict Reward

Proceedings of the National Academy of Sciences - PNAS, 2004-08, Vol.101 (33), p.12336-12341

2004

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Myoclonic epilepsy in Gaucher disease: Genotype-phenotype insights from a rare patient subgroup

Pediatric research, 2003-03, Vol.53 (3), p.387-395

2003

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A mutation in SCARB2 is a modifier in gaucher disease

Human mutation, 2011-11, Vol.32 (11), p.1232-1238

2011

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Evaluation of Quinazoline Analogues as Glucocerebrosidase Inhibitors with Chaperone Activity

Journal of medicinal chemistry, 2011-02, Vol.54 (4), p.1033-1058

2011

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Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

Molecular genetics and metabolism, 2007-06, Vol.91 (2), p.195-200

2007

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Phenotypic continuum in neuronopathic gaucher disease: an intermediate phenotype between type 2 and type 3

The Journal of pediatrics, 2003-08, Vol.143 (2), p.273-276

2003

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A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders

European journal of human genetics : EJHG, 2013-01, Vol.21 (1), p.115-117

2013

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Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease

The Journal of molecular diagnostics : JMD, 2011-07, Vol.13 (4), p.401-405

2011

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False-positive results using a Gaucher diagnostic kit – RecTL and N370S

Molecular genetics and metabolism, 2010-05, Vol.100 (1), p.100-102

2010

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Identification of Recombinant Alleles Using Quantitative Real-Time PCR

The Journal of molecular diagnostics : JMD, 2011, Vol.13 (4), p.401-405

2011

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A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

The New England journal of medicine, 1987-03, Vol.316 (10), p.570-575

1987

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In silico and functional studies of the regulation of the glucocerebrosidase gene

Molecular genetics and metabolism, 2010-03, Vol.99 (3), p.275-282

2010

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A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson disease

Neurobiology of disease, 2019-11, Vol.134, p.104647-104647

2019

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108 Mutant glucocerebrosidase and the synucleinopathies

Molecular genetics and metabolism, 2007-12, Vol.92 (4), p.33-33

2007

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Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease

Pediatric research, 1998-05, Vol.43 (5), p.571-578

1998

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Patient-derived Gaucher induced pluripotent stem cells as a tool to understand common complex disorders

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S128-S128

2018

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A New Glucocerebrosidase Chaperone Reduces -Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism

The Journal of neuroscience, 2016-07, Vol.36 (28), p.7441-7452

2016

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A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease

Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs

Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism

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

EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review

Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease

Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease

DNA Targeting of Rhinal Cortex D2 Receptor Protein Reversibly Blocks Learning of Cues That Predict Reward

Myoclonic epilepsy in Gaucher disease: Genotype-phenotype insights from a rare patient subgroup

A mutation in SCARB2 is a modifier in gaucher disease

Evaluation of Quinazoline Analogues as Glucocerebrosidase Inhibitors with Chaperone Activity

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

Phenotypic continuum in neuronopathic gaucher disease: an intermediate phenotype between type 2 and type 3

A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders

Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease

False-positive results using a Gaucher diagnostic kit – RecTL and N370S

Identification of Recombinant Alleles Using Quantitative Real-Time PCR

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

In silico and functional studies of the regulation of the glucocerebrosidase gene

A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson disease

108 Mutant glucocerebrosidase and the synucleinopathies

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease

Patient-derived Gaucher induced pluripotent stem cells as a tool to understand common complex disorders

A New Glucocerebrosidase Chaperone Reduces -Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism

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