Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease (Q37832784)

24 August 2017

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title

Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease (English)

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24 August 2017

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Grabowski GA

1

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PubMed ID

2127241

24 August 2017

Gatt S

series ordinal

2

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PubMed ID

2127241

24 August 2017

Horowitz M

series ordinal

3

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24 August 2017

1 January 1990

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Critical Reviews in Biochemistry and Molecular Biology

24 August 2017

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24 August 2017

25

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24 August 2017

385-414

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24 August 2017

6

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

24 August 2017

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Glial and neuronal localization of cerebroside-metabolizing enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

The biosynthesis by brain microsomes of cerebrosides containing nonhydroxy fatty acids

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Glycosyl transferases of microsomal fractions from brain: synthesis of glucosyl ceramide and galactosyl ceramide during development and the distribution of glucose and galactose transferase in white and grey matter

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Synthesis of galactosyl ceramide and glucosyl ceramide by rat brain: assay procedures and changes with age.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

On the biosynthesis of cerebrosides containing non-hydroxy acids. 2. Mass spectrometric evidence for the ceramide pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Glycosyltransferases of rat brain that make cerebrosides: substrate specificity, inhibitors, and abnormal products

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Enzymatic synthesis of glucosylsphingosine by rat brain microsomes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Enzymic synthesis of cerebroside from glycosylsphingosine and stearoyl-CoA by an embryonic chicken brain preparation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Synthesis of glucosylceramide by purified calf spleen beta-glucosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Enzymic hydrolysis of sphingolipids. VIII. Purification and properties of rat brain ceramidase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Changes in the fatty acid and sphingosine composition of the major gangliosides of human brain with age

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Human lysosomal beta-glucosidase: purification by affinity chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

A procedure for the rapid purification in high yield of human glucocerebrosidase using immunoaffinity chromatography with monoclonal antibodies.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Specificity of low molecular weight glycoprotein effector of lipid glycosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Solubilization of glucocerebrosidase from human placenta and demonstration of a phospholipid requirement for its catalytic activity

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Gaucher disease: isolation and comparison of normal and mutant glucocerebrosidase from human spleen tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

In situ radiation-inactivation size of fibroblast membrane-bound acid beta-glucosidase in Gaucher type 1, type 2 and type 3 disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Saposin A: second cerebrosidase activator protein

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Molecular cloning of a human co-beta-glucosidase cDNA: evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

The carbohydrate moiety of the activator protein for glucosylceramide β-glucosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Efficient routing of glucocerebrosidase to lysosomes requires complex oligosaccharide chain formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Cross-reacting material in Gaucher disease fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Enzymic differentiation of neurologic and nonneurologic forms of Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Lysosomal enzymes in chorionic villi, cultured amniocytes, and cultured skin fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Specificity of human glucosylceramide beta-glucosidase towards synthetic glucosylsphingolipids inserted into liposomes. Kinetic studies in a detergent-free assay system

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Activation of human spleen glucocerebrosidases by monoacylglycol sulfates and diacylglycerol sulfates

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Characterization of human glucosylsphingosine glucosyl hydrolase and comparison with glucosylceramidase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Comparison of synthetic and natural glucosylceramides as substrate for glucosylceramidase assay

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

The use of inhibitors in the study of glycosidases

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

The human glucocerebrosidase gene and pseudogene: structure and evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Structural analysis of the human glucocerebrosidase genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Molecular evolution of the human adult alpha-globin-like gene region: insertion and deletion of Alu family repeats and non-Alu DNA sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

The Alu Family of Dispersed Repetitive Sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Short interspersed repetitive DNA elements in eucaryotes: Transposable DNA elements generated by reverse transcription of RNA pol III transcripts?

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Direct repeats flank three small nuclear RNA pseudogenes in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Complete correction of the enzymatic defect of type I Gaucher disease fibroblasts by retroviral-mediated gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Saposin D: a sphingomyelinase activator

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Nucleotide sequence of cloned cDNA for human sphingolipid activator protein 1 precursor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Combination of interleukins 3 and 6 preserves stem cell function in culture and enhances retrovirus-mediated gene transfer into hematopoietic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Retrovirus-mediated gene transfer to purified hemopoietic stem cells with long-term lympho-myelopoietic repopulating ability.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

Expression of human adenosine deaminase in mice reconstituted with retrovirus-transduced hematopoietic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10409239009090616

10.3109/10409239009090616

21 January 2018

Identifiers

DOI

1 reference

24 August 2017

1 reference

PubMed ID

2127241