Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts (Q35248348)

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English	Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts	scientific article

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scholarly article

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30 September 2019

Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts (English)

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30 September 2019

Gaucher's disease

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J E Bergmann

1

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30 September 2019

G A Grabowski

2

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1 May 1989

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30 September 2019

American Journal of Human Genetics

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30 September 2019

44

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5

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741-750

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30 September 2019

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

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27 July 2018

Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

1 reference

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

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Biochemical studies in a patient with subacute neuropathic Gaucher disease without visceral glucosylceramide storage.

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Gaucher disease: a century of delineation and understanding

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Cross-reacting material in Gaucher disease fibroblasts

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Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine

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Biosynthesis of the lysosomal enzyme glucocerebrosidase

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Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients

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Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

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

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Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease

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Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient

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Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts

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Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase.

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

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1 reference

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30 September 2019

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