Gaucher disease: Progress and ongoing challenges (Q39028972)

27 February 2018

review article

1 reference

title

Gaucher disease: Progress and ongoing challenges (English)

1 reference

27 February 2018

1 reference

Pramod K Mistry

1

1 reference

27 February 2018

Grisel Lopez

2

1 reference

27 February 2018

Raphael Schiffmann

3

1 reference

27 February 2018

Norman W Barton

4

1 reference

27 February 2018

Neal J Weinreb

5

1 reference

27 February 2018

Ellen Sidransky

6

1 reference

27 February 2018

publication date

17 November 2016

1 reference

27 February 2018

Molecular Genetics and Metabolism

published in

1 reference

27 February 2018

volume

120

1 reference

27 February 2018

page(s)

8-21

1 reference

27 February 2018

issue

1-2

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27 February 2018

Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy

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Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease

17 June 2018

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Identification of Modifier Genes in a Mouse Model of Gaucher Disease

17 June 2018

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Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.

17 June 2018

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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

17 June 2018

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The nonmotor features of Parkinson's disease: pathophysiology and management advances

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Clinical course and prognosis in patients with Gaucher disease and parkinsonism

17 June 2018

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Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase

17 June 2018

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Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease

17 June 2018

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Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance

17 June 2018

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Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.

17 June 2018

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Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma

17 June 2018

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Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

17 June 2018

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Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.

17 June 2018

1 reference

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Variants associated with Gaucher disease in multiple system atrophy

17 June 2018

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Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial

17 June 2018

1 reference

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Lentiviral gene therapy using cellular promoters cures type 1 Gaucher disease in mice

17 June 2018

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Differential effects of severe vs mild GBA mutations on Parkinson disease

17 June 2018

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17 June 2018

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Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

The clinical management of Type 2 Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Outcome of early-treated type III Gaucher disease patients

17 June 2018

1 reference

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

17 June 2018

1 reference

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Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease

17 June 2018

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Glucocerebrosidase is shaking up the synucleinopathies

17 June 2018

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

17 June 2018

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A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability

17 June 2018

1 reference

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Glucocerebrosidase mutations and the pathogenesis of Parkinson disease

17 June 2018

1 reference

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Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature

17 June 2018

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A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

17 June 2018

1 reference

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The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism

17 June 2018

1 reference

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Causes of death due to hematological and non-hematological cancers in 57 US patients with type 1 Gaucher Disease who were never treated with enzyme replacement therapy

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

The link between the GBA gene and parkinsonism

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

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

17 June 2018

1 reference

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An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain

17 June 2018

1 reference

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Gaucher disease gene GBA functions in immune regulation

17 June 2018

1 reference

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Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant

17 June 2018

1 reference

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Hyposmia and cognitive impairment in Gaucher disease patients and carriers

17 June 2018

1 reference

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High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease

17 June 2018

1 reference

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Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease

17 June 2018

1 reference

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Invariant natural killer T cells recognize lipid self antigen induced by microbial danger signals

17 June 2018

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Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

17 June 2018

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The saccadic and neurological deficits in type 3 Gaucher disease

17 June 2018

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Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

17 June 2018

1 reference

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How I treat Gaucher disease

17 June 2018

1 reference

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Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse.

17 June 2018

1 reference

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Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

17 June 2018

1 reference

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Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Glycosidase inhibition: assessing mimicry of the transition state

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Phenotype, diagnosis, and treatment of Gaucher's disease

17 June 2018

1 reference

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Randomized, controlled trial of miglustat in Gaucher's disease type 3.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations

17 June 2018

1 reference

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Substrate reduction therapy

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Murine models of acute neuronopathic Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Immune system irregularities in lysosomal storage disorders.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

The long-term international safety experience of imiglucerase therapy for Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Effective cell and gene therapy in a murine model of Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

ERAD: the long road to destruction

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Parkinsonism among Gaucher disease carriers

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Gaucher disease: complexity in a "simple" disorder

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Biologically active sphingolipids in cancer pathogenesis and treatment

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Glucocerebrosidase mutations in subjects with parkinsonism

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Cerebroside synthesis in Gaucher's disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Delivery, distribution, and neuronal uptake of exogenous mannose-terminal glucocerebrosidase in the intact rat brain.

17 June 2018

1 reference

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Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablation

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Alpha-synuclein in Lewy bodies

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Occurrence of Parkinson's syndrome in type I Gaucher disease

17 June 2018

1 reference

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Treatment of Gaucher disease with an enzyme inhibitor

17 June 2018

1 reference

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Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

The role of neurogenetics in Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

N-butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Renal transplantation in Type II Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Structural analysis of the human glucocerebrosidase genes.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Gaucher's disease: advances and challenges

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Polyneuropathy with monoclonal gammopathy: glycolipids are frequently antigens for IgM paraproteins

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Enzyme replacement therapy in Gaucher's disease: large-scale purification of glucocerebrosidase suitable for human administration

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Clinical response to eliglustat in treatment-naïve patients with Gaucher disease type 1: Post-hoc comparison to imiglucerase-treated patients enrolled in the International Collaborative Gaucher Group Gaucher Registry

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Divergent phenotypes in Gaucher disease implicate the role of modifiers

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Gaucher disease and cancer incidence: a study from the Gaucher Registry.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Neuropathology provides clues to the pathophysiology of Gaucher disease.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

THE METABOLISM OF GLUCOCEREBROSIDES. I. PURIFICATION AND PROPERTIES OF A GLUCOCEREBROSIDE-CLEAVING ENZYME FROM SPLEEN TISSUE

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5425955

21 August 2018

1 reference

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Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.11.006

Infantile (type II) Gaucher's disease: in utero diagnosis and fetal pathology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.11.006

The lysosomal localization of sphingolipid hydrolases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.11.006

A new group of glucocerebrosidase isozymes found in human white blood cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.11.006

Bone-marrow transplantation in severe Gaucher's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.11.006

Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies

7 January 2021

1 reference

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Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation

7 January 2021

1 reference

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Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

7 January 2021

1 reference

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Gaudier patients with oculomotor abnormalities do not have a unique genotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.11.006

Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.11.006

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization

7 January 2021

1 reference

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Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention

7 January 2021

1 reference

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Increased incidence of cancer in adult Gaucher disease in Western Europe

7 January 2021

1 reference

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Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.11.006

Gaucher and Parkinson diseases: unexpectedly related.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.11.006

Design and synthesis of highly potent and selective pharmacological chaperones for the treatment of Gaucher's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.11.006

Biliary excretion of glycolipid in induced or inherited glucosylceramide lipidosis

7 January 2021

1 reference

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[Gaucher's disease in Norrbotten.]

7 January 2021

1 reference

12 December 2020

Isolation and Characterization of Glucocerebrosidase from Human Placental Tissue

1 reference

12 December 2020

Structure of the N-asparagine-linked oligosaccharide units of human placental beta-glucocerebrosidase

1 reference

12 December 2020

Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry

1 reference

12 December 2020

1 reference

12 December 2020

10.1016/J.YMGME.2016.11.006

Identifiers

DOI

1 reference

27 February 2018

PMCID

5425955

1 reference

27 February 2018

PubMed ID

27916601

1 reference

27 February 2018