Deficiency of UDP-N-acetylglucosamine: Lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in organs of I-cell patients

PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT

1951 • 319,299 citations

The Metabolic Basis of Inherited Disease

1979 • 2,083 citations

Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues.

1980 • 404 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

Mutant Enzymatic and Cytological Phenotypes in Cultured Human Fibroblasts

1967 • 240 citations

UDP-N-acetylglucosamine:glycoprotein N-acetylglucosamine-1-phosphotransferase. Proposed enzyme for the phosphorylation of the high mannose oligosaccharide units of lysosomal enzymes.

1981 • 229 citations

Human β-glucuronidase: In vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells

1978 • 228 citations

I-Cell Disease: Biochemical Studies

1972 • 215 citations

Identification of a rat liver alpha-N-acetylglucosaminyl phosphodiesterase capable of removing “blocking” alpha-N-acetylglucosamine residues from phosphorylated high mannose oligosaccharides of lysosomal enzymes.

1980 • 174 citations

Processing of the phosphorylated recognition marker in lysosomal enzymes. Characterization and partial purification of a microsomal alpha-N-acetylglucosaminyl phosphodiesterase.

1981 • 154 citations

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

1981 • 122 citations

I-Cell disease (Mucolipidosis II)

1975 • 102 citations

Oligosaccharides in Lysosomal Enzymes

1981 • 97 citations

The uptake of native and desialylated glucocerebrosidase by rat hepatocytes and Kupffer cells

1978 • 92 citations

I-Cell disease, mucolipidosis II

1973 • 67 citations

Synthesis and Processing of Arylsulfatase A in Human Skin Fibroblasts

1982 • 65 citations

Properties of N-acetyl-beta-D-hexosaminidase from isolated normal and I-cell lysosomes.

1981 • 49 citations

Recognition of human urine α-N-acetylglucosaminidase by rat hepatocytes. Involvement of receptors specific for galactose, mannose 6-phosphate and mannose

1979 • 45 citations

MUCOLIPIDOSIS II (I‐CELL DISEASE) A Clinical and Biochemical Study

1974 • 22 citations

Fucose plays a role in the clearance and uptake of glucocerebrosidase by rat liver cells

1980 • 18 citations

β-Galactosidase in mucopolysaccharidoses and mucolipidoses. deficiency of GM1 β-galactosidase in liver and leukocytes

1977 • 14 citations

Endocytosis of β-N-acetylglucosaminidase from sections of mucolipidosis-II and-III fibroblasts by non-parenchymal rat liver cells

1979 • 13 citations