Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1970 • 253,849 citations

The Metabolic Basis of Inherited Disease.

1988 • 7,933 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

Cathepsin L

1977 • 341 citations

Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.

1981 • 323 citations

Lysosomes and lysosomal storage diseases

1981 • 315 citations

Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in l-cell fibroblasts

1981 • 299 citations

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

1971 • 257 citations

A Deficiency of Glucocerebrosidase in Gaucher's Disease

1965 • 248 citations

Enzymes of Lipid Metabolism II

1986 • 208 citations

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

1976 • 200 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

Biosynthesis of the lysosomal enzyme glucocerebrosidase.

1985 • 139 citations

Human leukocyte acid hydrolases: Characterization of eleven lysosomal enzymes and study of reaction conditions for their automated analysis

1976 • 133 citations

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

1982 • 121 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

Studies on the Pathogenetic Mechanism of I-Cell Disease in Cultured Fibroblasts

1974 • 75 citations

The occurrence of two immunologically distinguishable beta-glucocerebrosidases in human spleen

1985 • 71 citations

Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with niemann-pick disease and other lysosomal storage diseases

1983 • 67 citations

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

1986 • 65 citations

The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study.

1985 • 63 citations

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

1983 • 62 citations

Determination of Gaucher's disease phenotypes with monoclonal antibody

1983 • 58 citations

Isolation and characterization of a precursor form of lysosomal α‐glucosidase from human urine

1984 • 56 citations

Monoclonal Antibodies against Human β‐Glucocerebrosidase

1983 • 51 citations

Cross-reacting material in Gaucher disease fibroblasts.

1984 • 47 citations

Incidence of aneuploidy in a human population.

1976 • 46 citations

An improved fluorometric leukocyte β-glucosidase assay for Gaucher's disease

1981 • 42 citations

β-Glucosidase activities in human tissues findings in Gaucher's disease

1970 • 38 citations

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

1986 • 37 citations

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

1987 • 35 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

Enzymic diagnosis in 27 cases with Gaucher's disease

1980 • 28 citations

Biosynthesis and deficiency of lysosomal enzymes

1985 • 27 citations

Immunological and catalytic quantitation of splenic glucocerebrosidase from the three clinical forms of Gaucher disease.

1983 • 25 citations

Soluble sphingomyelinase from human urine as antigen for obtaining anti-sphingomyelinase antibodies

1985 • 20 citations

Effect of 2-deoxyglucose on lysosomal enzymes in cultured human skin fibroblasts

1980 • 20 citations

Deficiency of steroid β-glucosidase in Gaucher disease

1975 • 13 citations

A method for the determination of sphingomyelinase activity

1975 • 10 citations

Human brain beta-glucosidase and beta-galactosidase. Influence of triton X-100 on the extraction, activation and gel chromatographic behaviour.

1973 • 6 citations

GENETIC HETEROGENEITY OF GAUCHER'S DISEASE

1984 • 5 citations

Forms of Glucocerebrosidase Present in Tissues and Urine

1986 • 4 citations