(Q40865008)

24 September 2017

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title

Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease (English)

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24 September 2017

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J M Aerts

1

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24 September 2017

S Van Weely

2

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24 September 2017

R Boot

3

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24 September 2017

C E Hollak

4

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24 September 2017

J M Tager

5

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24 September 2017

1 January 1993

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Journal of Inherited Metabolic Disease

24 September 2017

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24 September 2017

16

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24 September 2017

2

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24 September 2017

288-291

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https://scigraph.springernature.com/pub.10.1007/bf00710267

24 September 2017

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cites work

Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses

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12 December 2020

Ceramide stimulates a cytosolic protein phosphatase

1 reference

12 December 2020

Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease

1 reference

12 December 2020

Gaucher disease: new molecular approaches to diagnosis and treatment

1 reference

12 December 2020

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

1 reference

12 December 2020

Ceramide is a competitive inhibitor of diacylglycerol kinase in vitro and in intact human leukemia (HL-60) cells

1 reference

12 December 2020

Characterization of human glucocerebrosidase from different mutant alleles

1 reference

12 December 2020

Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene

1 reference

12 December 2020

The human glucocerebrosidase gene and pseudogene: structure and evolution

1 reference

12 December 2020

Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

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12 December 2020

Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting

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12 December 2020

Lysosomal storage diseases

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12 December 2020

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

1 reference

12 December 2020

Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Gaucher cells in chronic myelocytic leukemia: an acquired abnormality

1 reference

12 December 2020

Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease

1 reference

12 December 2020

Modulation of renal epithelial cell growth by glucosylceramide. Association with protein kinase C, sphingosine, and diacylglycerol

1 reference

12 December 2020

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form

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12 December 2020

Prediction of severity of Gaucher's disease by identification of mutations at DNA level

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12 December 2020

The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00710267

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Dimensions Publication ID

24 September 2017

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