Acid β-Glucosidase: Enzymology and Molecular Biology of Gaucher Diseas

Biomembranes: molecular structure and function

1989 • 1,257 citations

Biomembranes

1989 • 983 citations

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

1980 • 809 citations

Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease

1965 • 800 citations

The Alu Family of Dispersed Repetitive Sequences

1982 • 611 citations

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

1977 • 580 citations

Swainsonine inhibits the biosynthesis of complex glycoproteins by inhibition of Golgi mannosidase II.

1982 • 463 citations

The human glucocerebrosidase gene and pseudogene: Structure and evolution

1989 • 421 citations

Promoters for housekeeping genes

1986 • 412 citations

Fabry's Disease: Classification as a Sphingolipidosis and Partial Characterization of a Novel Glycolipid

1963 • 397 citations

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

1990 • 374 citations

A Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's Disease

1987 • 343 citations

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

1981 • 339 citations

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

1989 • 316 citations

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

1981 • 307 citations

Replacement Therapy for Inherited Enzyme Deficiency

1974 • 292 citations

PREDICTION OF SEVERITY OF GAUCHER'S DISEASE BY IDENTIFICATION OF MUTATIONS AT DNA LEVEL

1989 • 284 citations

Accumulation of Glucosylceramide and Glucosylsphingosine (Psychosine) in Cerebrum and Cerebellum in Infantile and Juvenile Gaucher Disease

1982 • 271 citations

Gaucher's Disease: Deficiency of “cid”β-Glucosidase and Reconstitution of Enzyme Activity In Vitro

1971 • 257 citations

Coding of Two Sphingolipid Activator Proteins (SAP-1 and SAP-2) by Same Genetic Locus

1988 • 251 citations

A Deficiency of Glucocerebrosidase in Gaucher's Disease

1965 • 248 citations

Lysosomal enzyme targeting. N-Acetylglucosaminylphosphotransferase selectively phosphorylates native lysosomal enzymes.

1981 • 235 citations

Phosphomannosyl-enzyme receptors in rat liver. Subcellular distribution and role in intracellular transport of lysosomal enzymes.

1980 • 231 citations

Gaucher Disease: A Century of Delineation and Research

1983 • 221 citations

Inhibitors of oligosaccharide processing

1985 • 218 citations

Enzymatic Synthesis of Ceramide-Glucose and Ceramide-Lactose by Glycosyltransferases from Embryonic Chicken Brain

1968 • 215 citations

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA.

1985 • 209 citations

Enzymatic Hydrolysis of Sphingolipids

1966 • 204 citations

Differentiation of β-glucocerebrosidase from β-glucosidase in human tissues using sodium taurocholate

1976 • 200 citations

Lysosomal acid phosphatase is transported to lysosomes via the cell surface.

1989 • 189 citations

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

1988 • 188 citations

Reversible inhibitors of .beta.-glucosidase

1985 • 183 citations

Isolation and Characterization of Glucocerebrosidase from Human Placental Tissue

1973 • 169 citations

Immunochemical Characterization of Two Activator Proteins Stimulating Enzymic Sphingomyelin Degradation in vitro Absence of One of them in a Human Gaucher Disease Variant

1986 • 164 citations

Sphingolipid Biochemistry

1983 • 162 citations

Gaucher Cells in Chronic Myelocytic Leukemia: An Acquired Abnormality

1969 • 156 citations

The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes.

1970 • 151 citations

The use of inhibitors in the study of glycosidases

1982 • 145 citations

Biosynthesis of the lysosomal enzyme glucocerebrosidase.

1985 • 139 citations

A model of evolutionary change in protein

1978 • 138 citations

The Activator of Cerebroside Sulphatase. Purification from Human Liver and Identification as a Protein

1975 • 135 citations

Structure of Full-Length cDNA Coding for Sulfatide Activator, a Co-β-Glucosidase and Two Other Homologous Proteins: Two Alternate Forms of the Sulfatide Activator1

1989 • 134 citations

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

1977 • 133 citations

Gaucher disease: molecular heterogeneity and phenotype-genotype correlations.

1989 • 130 citations

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

1986 • 129 citations

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease.

1980 • 126 citations

Saposin A: second cerebrosidase activator protein.

1989 • 126 citations

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

1990 • 126 citations

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

1984 • 125 citations

Purification and characterization of rat liver alpha-N-acetylglucosaminyl phosphodiesterase.

1981 • 122 citations

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

1982 • 121 citations

Purification and properties of a heat-stable glucocerebrosidase activating factor from control and Gaucher spleen.

1977 • 118 citations

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

1985 • 116 citations

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 acidβ-glucosidase gene

1989 • 113 citations

Complex alleles of the acid beta-glucosidase gene in Gaucher disease.

1990 • 112 citations

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

1983 • 112 citations

Saposin D: A sphingomyelinase activator

1988 • 111 citations

Enzymatic Synthesis of Glucocerebroside by a Glucosyltransferase from Embryonic Chicken Brain

1973 • 111 citations

The biosynthesis by brain microsomes of cerebrosides containing nonhydroxy fatty acids

1970 • 111 citations

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

1969 • 108 citations

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

1990 • 105 citations

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

1972 • 102 citations

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

1983 • 100 citations

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

1989 • 98 citations

BENEFICIAL EFFECT OF PRE-TRANSPLANT SPLENECTOMY ON DISPLACEMENT BONE MARROW TRANSPLANTATION FOR GAUCHER'S SYNDROME

1987 • 98 citations

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

1978 • 96 citations

Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

1987 • 94 citations

Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.

1971 • 93 citations

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

1990 • 93 citations

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

1986 • 89 citations

Biosynthesis of lysosomal enzymes

1980 • 87 citations

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

1982 • 86 citations

Subcellular location of two enzymes involved in the synthesis of phosphorylated recognition markers in lysosomal enzymes.

1981 • 85 citations

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

1987 • 84 citations

Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations.

1990 • 82 citations

Synthetic substrate ß‐glucosidase activity in leukocytes: A reproducible method for the identification of patients and carriers of Gaucher's disease

1978 • 77 citations

N-Hexyl-0-glucosyl sphingosine, an inhibitor of glucosyl ceramide, β-glucosidase

1973 • 77 citations

Binding of phospholipids to the phosphatidylinositol transfer protein from bovine brain as studied by steady-state and time-resolved fluorescence spectroscopy

1987 • 75 citations

Characterization of mutations in Gaucher patients by cDNA cloning.

1989 • 75 citations

BIOCHEMISTRY OF THE SPHINGOLIPIDES

1956 • 73 citations

Biosynthesis of the sulfatide/GM1 activator protein (SAP-1) in control and mutant cultured skin fibroblasts

1986 • 73 citations

Isolation of cDNA clones for human β-glucocerebrosidase using the λgtll expression system

1984 • 72 citations

Characterization and quantitative determination of gangliosides and neutral glycosphingolipids in human liver.

1982 • 72 citations

Glial and neuronal localization of cerebroside-metabolizing enzymes

1972 • 71 citations

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

1989 • 69 citations

β-Glucosidase activator protein from bovine spleen (“coglucosidase”)

1981 • 66 citations

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

1976 • 66 citations

Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes.

1986 • 65 citations

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

1986 • 65 citations

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

1987 • 65 citations

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

1985 • 65 citations

Gaucher Disease Type 1: Cloning and Characterization of a cDNA Encoding Acid β-Glucosidase from an Ashkenazi Jewish Patient

1988 • 64 citations

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 MATTER¹

1971 • 63 citations

Biosynthesis and maturation of arylsulfatase B in normal and mutant cultured human fibroblasts.

1983 • 62 citations

The gene coding for a sphingolipid activator protein, SAP-1, is on human chromosome 10

1985 • 61 citations

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

1989 • 60 citations

Synthesis and processing of sphingolipid activator protein-2 (SAP-2) in cultured human fibroblasts.

1986 • 59 citations

Determination of Gaucher's disease phenotypes with monoclonal antibody

1983 • 58 citations

Specificity of human glucosylceramide β‐glucosidase towards synthetic glucosylsphingolipids inserted into liposomes

1986 • 57 citations

Mammalian Glucocerebrosidase: Implications for Gaucher’s Disease

1989 • 55 citations

The activator protein for glucosylceramide beta-glucosidase from guinea pig liver. Improved isolation method and complete amino acid sequence.

1988 • 55 citations

Activators of spleen glucocerebrosidase from controls and patients with various forms of Gaucher's disease.

1984 • 53 citations

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

1989 • 53 citations

Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene.

1990 • 52 citations

Structural Analysis of the Human Glucocerebrosidase Genes

1988 • 52 citations

Complete Amino-Acid Sequence and Carbohydrate Content of the Naturally Occurring Glucosylceramide Activator Protein (A₁Activator) Absent from a New Human Gaucher Disease Variant

1987 • 52 citations

Human acid β-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites

1987 • 51 citations

Isolation and Amino Acid Sequence of a Hexadecapeptide from the Active Site of ß-Glucosidase A₃ from Aspergillus wentii

1974 • 50 citations

Short chain ceramides as substrates for glucocerebroside synthetase. Differences between liver and brain enzymes

1979 • 50 citations

Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants

1985 • 49 citations

Specificity of low molecular weight glycoprotein effector of lipid glycosidase

1975 • 48 citations

Deficiency of glucosylsphingosine: -Glucosidase in Gaucher disease

1973 • 47 citations

Cross-reacting material in Gaucher disease fibroblasts.

1984 • 47 citations

Purification of β-glucocerebrosidase by preparative-scale high-performance liquid chromatography: The use of ethylene glycol-containing buffers for chromatography of hydrophobic glycoprotein enzymes

1985 • 46 citations

Glycosylation and Processing of High Levels of Active Human Glucocerebrosidase in Invertebrate Cells Using a Baculovirus Expression Vector

1988 • 46 citations

Human lysosomal β-glucosidase: Kinetic characterization of the catalytic, aglycon, and hydrophobic binding sites

1984 • 45 citations

Lipid storage disorders : biological and medical aspects

1988 • 44 citations

Amino acid sequence at the active site of β-glucosidase a from bitter almonds

1978 • 44 citations

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

1985 • 43 citations

Enzymic Differentiation of Neurologic and Nonneurologic Forms of Gaucher's Disease

1982 • 42 citations

Modification of subunit interaction in membrane‐bound acid β‐glucosidase from Gaucher disease

1983 • 41 citations

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

1987 • 41 citations

Assignment of the gene for human sphingolipid activator protein-2 (SAP-2) to chromosome 10.

1985 • 41 citations

Isolation of heat-stable glucocerebrosidase activators from the spleens of three variants of Gaucher's disease

1977 • 40 citations

The fate of glucosylceramide (glucocerebroside) in genetically impaired (lysosomal beta-glucosidase deficient) Gaucher disease diploid human fibroblasts.

1985 • 39 citations

A revised fluorometric assay for Gaucher's disease using conduritol-β-epoxide with liver as the source of β-glucosidase

1980 • 39 citations

Activation of membrane-bound glucosylceramide: beta-glucosidase in fibroblasts cultured from normal and glucosylceramidotic human skin.

1979 • 38 citations

Characterization of the activation of rat liver beta-glucosidase by sialosylgangliotetraosylceramide.

1985 • 37 citations

Characterization of human glucosylsphingosine glucosyl hydrolase and comparison with glucosylceramidase

1985 • 37 citations

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

1986 • 37 citations

Glucosylceramidase from Calf Spleen. Characterization of its Active Site with 4-n-Alkylumbelliferyl (β-glucosides andN-Alkyl Derivatives of 1-Deoxynojirimycin

1985 • 36 citations

The Geometry of Sphingosine

1952 • 36 citations

Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts.

1986 • 36 citations

Further studies on the activation of glucocerebrosidase by a heat-stable factor from Gaucher spleen

1985 • 35 citations

Human Acid ß-Glucosidase: Inhibition Studies Using Glucose Analogues and pH Variation to Characterize the Normal and Gaucher Disease Glycon Binding Sites

1988 • 35 citations

EfficientIn VitroandIn VivoExpression of Human Glucocerebrosidase cDNA

1987 • 35 citations

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

1987 • 35 citations

Gaucher Type 1 (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate

1982 • 35 citations

The cohydrolases in human spleen that stimulate glucosyl ceramide β-glucosidase

1983 • 34 citations

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

1978 • 34 citations

Relationship between the two immunologically distinguishable forms of glucocerebrosidase in tissue extracts

1987 • 34 citations

Labelling of the active centre of a β-glucosidase

1968 • 34 citations

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

1986 • 32 citations

Propriétés des formes moléculaires de la β-glucosidase et de la β-glucocéréhrosidase de rate humaine normale et de maladie de Gaucher

2005 • 32 citations

Characterization of the phospholipid requirement of a rat liver β-glucosidase

1984 • 32 citations

Metabolism of glucosyl [13H]ceramide by human skin fibroblasts from normal and glucosylceramidotic subjects.

1975 • 31 citations

GLYCOSYLTRANSFERASES OF RAT BRAIN THAT MAKE CEREBROSIDES: SUBSTRATE SPECIFICITY, INHIBITORS, AND ABNORMAL PRODUCTS¹

1976 • 30 citations

Human lysosomal β-glucosidase: Purification by affinity chromatography

1984 • 30 citations

Human acid β-glucosidase: use of sphingosyl and N-alkyl-glucosylamine inhibitors to investigate the properties of the active site

1990 • 30 citations

Expression of Functional Human Acid ß-Glucosidase in COS-1 and Spodoptera frugiperda Cells

1989 • 29 citations

Efficient routing of glucocerebrosidase to lysosomes requires complex oligosaccharide chain formation

1986 • 29 citations

Enzymic diagnosis in 27 cases with Gaucher's disease

1980 • 28 citations

Bone marrow transplantation in Gaucher disease.

1986 • 28 citations

Comparison of N-acyl phosphatidylethanolamines with different N-acyl groups as activators of glucocerebrosidase in various forms of Gaucher's disease

1985 • 28 citations

Enzymatic synthesis of glucosylsphingosine by rat brain microsomes

1972 • 27 citations

Purification of glucosylceramidase by affinity chromatography

1982 • 26 citations

A triple-binding-domain model explains the specificity of the interaction of a sphingolipid activator protein (SAP-1) with sulphatide, GM1-ganglioside and globotriaosylceramide

1986 • 25 citations

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

1986 • 25 citations

Human Acid Beta-Glucosidase: Affinity Purification of the Normal Placental and Gaucher Disease Splenic Enzymes on N - Alkyl-Deoxy nojirimy cin-Sepharose

1986 • 25 citations

On the biosynthesis of cerebrosides containing non-hydroxy acids

1971 • 24 citations

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

1974 • 22 citations

Regional assignment of the structural gene for human acid β-glucosidase to q42→qter on chromosome 1

1982 • 21 citations

Functional lysosomal hydrolase size as determined by radiation inactivation analysis

1985 • 19 citations

Use of Activators and Inhibitors to Define the Properties of the Active Site of Normal and Gaucher Disease Lysosomal ß-Glucosidase

1985 • 19 citations

Purification of human placental glucocerebrosidase using a two-step high-performance hydrophobic and gel permeation column chromatography method

1986 • 18 citations

Comparison of synthetic and natural glucosylceramides as substrate for glucosylceramidase assay

1982 • 18 citations

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

1980 • 17 citations

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

1988 • 17 citations

A kinetic study of the effects of galactocerebroside 3-sulphate on human spleen glucocerebrosidase. Evidence for two activator-binding sites

1986 • 17 citations

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

1986 • 16 citations

On the biosynthesis of cerebrosides containing non-hydroxy acids

1971 • 15 citations

Human sphingolipid activator protein-1 and sphingolipid activator protein-2 are encoded by the same gene.

1989 • 15 citations

Complete Amino-Acid Sequence of the Naturally Occurring A₂Activator Protein for Enzymic Sphingomyelin Degradation: Identity to the Sulfatide Activator Protein (SAP-1)

1988 • 15 citations

Comparison of the ability of phospholipids from rat liver lysosomes to reconstitute glucocerebrosidase

1986 • 14 citations

Calmodulin and parvalbumin: Activators of human liver glucocerebrosidase

1984 • 14 citations

High-resolution proton nuclear magnetic resonance studies of the glucocerebrosidase activator protein from Gaucher spleen

1985 • 13 citations

Synthesis of glucosylceramide by purified calf spleen β-glucosidase

1974 • 13 citations

Correlation between the activity of glucosylceramidase and its binding to glucosylceramide-containing liposomes. Role of acidic phospholipids and fatty acids

1990 • 13 citations

Sucrose gradient analysis of phospholipid-activated β-glucosidase in type 1 and type 2 Gaucher's disease

1985 • 13 citations

A modified method for the identification of heterozygotes for Gaucher's disease using differential thermal inactivation

1980 • 11 citations

Characterization of the Normal Human Glucocerebrosidase Genes and a Mutated Form in Gaucher’s Patient

1988 • 9 citations

Sulfogalactocerebroside and bis-(monoacylglyceryl)-phosphate as activators of spleen glucocerebrosidase

1986 • 9 citations

Glucocerebrosidase "processing" and gene expression in various forms of Gaucher disease.

1985 • 9 citations

Molecular Forms, Biosynthesis and Maturation of Glucocerebrosidase, a Membrane-Associated Lysosomal Enzyme Deficient in Gaucher Disease

1986 • 8 citations

Activation of human spleen glucocerebrosidases by monoacylglycol sulfates and diacylglycerol sulfates

1988 • 6 citations

Gaucher Disease: Enzymatic and Molecular Studies

1988 • 4 citations