(Q34907714)

5 August 2017

Phenotype, diagnosis, and treatment of Gaucher's disease (English)

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5 August 2017

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Gregory A Grabowski

1

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PubMed ID

19094956

5 August 2017

language of work or name

English

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publication date

1 October 2008

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5 August 2017

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5 August 2017

372

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5 August 2017

9645

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5 August 2017

1263-1271

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Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

5 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation)

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

A neurological symptom survey of patients with type I Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Gaucher's disease: molecular, genetic and enzymological aspects

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Perinatal-lethal Gaucher disease

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Gaucher disease: complexity in a "simple" disorder

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Prevalence of lysosomal storage disorders

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Gaucher disease mutations in non-Jewish patients

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Enzyme therapy for lysosomal storage disease: principles, practice, and prospects

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Differential effects of glycolipid biosynthesis inhibitors on ceramide-induced cell death in neuroblastoma cells

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Sphingolipids and cell signalling

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Ceramide regulation of apoptosis versus differentiation: a walk on a fine line. Lessons from neurobiology

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Monocyte and macrophage heterogeneity

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

The pathogenesis of glycosphingolipid storage disorders

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Serum chitotriosidase activity in Gaucher patients on enzyme replacement therapy (ERT)

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

ER stress and the unfolded protein response

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

The unfolded protein response--a stress signaling pathway of the endoplasmic reticulum

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

A stress response pathway from the endoplasmic reticulum to the nucleus requires a novel bifunctional protein kinase/endoribonuclease (Ire1p) in mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

The unfolded protein response: a stress signaling pathway critical for health and disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

The unfolded protein response is an important regulator of inflammatory genes in endothelial cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Opposing activities protect against age-onset proteotoxicity

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

1 reference

7 January 2021

Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Parkinsonism among Gaucher disease carriers

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Occurrence of Parkinson's syndrome in type I Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Analysis of the glucocerebrosidase gene in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Gaucher disease and parkinsonism

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Neuropathology provides clues to the pathophysiology of Gaucher disease

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Hematologically important mutations: Gaucher disease

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Three Gaucher-disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Gaucher disease: gene frequencies and genotype/phenotype correlations

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Dosage-response in the treatment of Gaucher disease by enzyme replacement therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Individualised low-dose alglucerase therapy for type 1 Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Therapeutic goals in the treatment of Gaucher disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

The design versus the analysis of observational studies for causal effects: parallels with the design of randomized trials.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Enzyme therapy of gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Gangliosides Inhibit Glucosylceramide Synthase: A Possible Role in Ganglioside Therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Metabolic effects of short-chain ceramide and glucosylceramide on sphingolipids and protein kinase C.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

A turn in the road: How studies on the pharmacology of glucosylceramide synthase inhibitors led to the identification of a lysosomal phospholipase A2 with ceramide transacylase activity

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Clinical and biochemical outcome of marrow transplantation for Gaucher disease of the Norrbottnian type

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Long-term follow-up of the first successful bone marrow transplantation in Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Gene therapy. Second child in French trial is found to have leukemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Leukemia case triggers tighter gene-therapy controls

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

Characterization of neuronopathic Gaucher disease among ethnic Poles

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961522-6

7 January 2021

10.1016/S0140-6736(08)61522-6

Identifiers

DOI

1 reference

5 August 2017

1 reference

PubMed ID

19094956