Published in Methods Enzymol on January 01, 1978
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science (1997) 6.66
Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med (1991) 6.09
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med (1967) 5.63
Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA (2001) 5.54
Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science (1997) 4.55
Characterization of the imitation switch subfamily of ATP-dependent chromatin-remodeling factors in Saccharomyces cerevisiae. Genes Dev (1999) 4.25
Targeted disruption of the cyclin-dependent kinase 5 gene results in abnormal corticogenesis, neuronal pathology and perinatal death. Proc Natl Acad Sci U S A (1996) 4.16
The efficacy of a Salmonella typhi Vi conjugate vaccine in two-to-five-year-old children. N Engl J Med (2001) 4.08
D-serine is an endogenous ligand for the glycine site of the N-methyl-D-aspartate receptor. Proc Natl Acad Sci U S A (2000) 3.71
Transduction of nondividing cells using pseudotyped defective high-titer HIV type 1 particles. Proc Natl Acad Sci U S A (1996) 3.07
Intracellular trafficking of cholesterol monitored with a cyclodextrin. J Biol Chem (1996) 2.56
Biosynthesis and function of gangliosides. Science (1976) 2.51
Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients. Clin Genet (1988) 2.50
High-titer human immunodeficiency virus type 1-based vector systems for gene delivery into nondividing cells. J Virol (1998) 2.47
The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo. J Biol Chem (1999) 2.45
alpha-Galactosidase A deficient mice: a model of Fabry disease. Proc Natl Acad Sci U S A (1997) 2.43
Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med (1995) 2.39
A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci U S A (1985) 2.38
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. Proc Natl Acad Sci U S A (1966) 2.32
Purification of serine racemase: biosynthesis of the neuromodulator D-serine. Proc Natl Acad Sci U S A (1999) 2.27
Functional incorporation of ganglioside into intact cells: induction of choleragen responsiveness. Proc Natl Acad Sci U S A (1976) 2.14
The sphingolipidoses. N Engl J Med (1966) 2.13
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. J Clin Invest (1966) 2.01
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A (2000) 2.00
Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. J Biol Chem (1988) 1.98
Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease. N Engl J Med (1973) 1.94
D-serine as a neuromodulator: regional and developmental localizations in rat brain glia resemble NMDA receptors. J Neurosci (1997) 1.93
Cholesterol balance and metabolism in mice with loss of function of Niemann-Pick C protein. Am J Physiol (1999) 1.90
Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci U S A (1990) 1.88
Production, purification and immunogenicity of a malaria transmission-blocking vaccine candidate: TBV25H expressed in yeast and purified using nickel-NTA agarose. Biotechnology (N Y) (1994) 1.87
Quantitative and qualitative analyses of serum antibodies elicited in adults by Haemophilus influenzae type b and pneumococcus type 6A capsular polysaccharide-tetanus toxoid conjugates. Infect Immun (1986) 1.79
Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta (1991) 1.79
Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood. Science (1967) 1.78
Gangliosides in DNA virus-transformed and spontaneously transformed tumorigenic mouse cell lines. Proc Natl Acad Sci U S A (1969) 1.76
Production, recovery and immunogenicity of the protective antigen from a recombinant strain of Bacillus anthracis. J Ind Microbiol Biotechnol (2002) 1.75
Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts. Am J Hum Genet (1972) 1.74
Regulation of NMDA receptors by cyclin-dependent kinase-5. Proc Natl Acad Sci U S A (2001) 1.73
Lactosylceramide galactosidase: comparison with other sphingolipid hydrolases in developing rat brain. Brain Res (1969) 1.72
Treatment of uveitis by oral administration of retinal antigens: results of a phase I/II randomized masked trial. Am J Ophthalmol (1997) 1.71
Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts. FASEB J (1987) 1.71
Laboratory and clinical evaluation of conjugate vaccines composed of Staphylococcus aureus type 5 and type 8 capsular polysaccharides bound to Pseudomonas aeruginosa recombinant exoprotein A. Infect Immun (1993) 1.70
Synthesis and immunologic properties in mice of vaccines composed of Staphylococcus aureus type 5 and type 8 capsular polysaccharides conjugated to Pseudomonas aeruginosa exotoxin A. Infect Immun (1990) 1.69
Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease. N Engl J Med (1974) 1.67
Metachromatic leukodystrophy: diagnosis with samples of venous blood. Science (1968) 1.67
Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease. Proc Natl Acad Sci U S A (1982) 1.64
A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Biochim Biophys Acta (1980) 1.63
Isolation and characterization of glucocerebrosidase from human placental tissue. J Biol Chem (1973) 1.62
Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease. Blood Cells Mol Dis (2000) 1.61
Isolation and relationship of human hexosaminidases. J Biol Chem (1974) 1.61
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. Am J Hum Genet (1999) 1.57
Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease. Neurology (2006) 1.57
Enzyme replacement therapy in Gaucher's disease: large-scale purification of glucocerebrosidase suitable for human administration. Proc Natl Acad Sci U S A (1977) 1.56
Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes. Proc Natl Acad Sci U S A (1988) 1.56
A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol. J Biol Chem (1984) 1.54
Endogenous peptides bound to HLA-A3 possess a specific combination of anchor residues that permit identification of potential antigenic peptides. Proc Natl Acad Sci U S A (1993) 1.50
Correction of the NMR structure of the ETS1/DNA complex. J Biomol NMR (1997) 1.50
IgM in a human neuropathy related to paraproteinemia binds to a carbohydrate determinant in the myelin-associated glycoprotein and to a ganglioside. Proc Natl Acad Sci U S A (1984) 1.49
Cocaine detoxification by human plasma butyrylcholinesterase. Toxicol Appl Pharmacol (1997) 1.49
Thyrotropin-ganglioside interactions and their relationship to the structure and function of thyrotropin receptors. Proc Natl Acad Sci U S A (1976) 1.48
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation (2001) 1.46
Preparation, characterization, and immunogenicity of conjugates composed of the O-specific polysaccharide of Shigella dysenteriae type 1 (Shiga's bacillus) bound to tetanus toxoid. Infect Immun (1991) 1.44
Evidence for the close association of a glycoprotein with myelin in rat brain. J Neurochem (1973) 1.44
Synthesis and immunological properties of conjugates composed of group B streptococcus type III capsular polysaccharide covalently bound to tetanus toxoid. Infect Immun (1990) 1.43
Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts. J Biol Chem (1986) 1.41
A clinical staging classification for type C Niemann-Pick disease. Neurology (1992) 1.40
Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice. Proc Natl Acad Sci U S A (2001) 1.40
Purification and properties of the two major isozymes of alpha-galactosidase from human placenta. J Biol Chem (1978) 1.39
Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation. Biochim Biophys Acta (1981) 1.38
Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease. Proc Natl Acad Sci U S A (2001) 1.37
The isolation and crystallization of yeast and rabbit liver triose phosphate isomerase and a comparative characterization with the rabbit muscle enzyme. Eur J Biochem (1970) 1.36
Gaucher cells in chronic myelocytic leukemia: an acquired abnormality. Blood (1969) 1.36
Evidence that the major protein in rat sciatic nerve myelin is a glycoprotein. J Neurochem (1973) 1.34
Serum antibody responses of juvenile and infant rhesus monkeys injected with Haemophilus influenzae type b and pneumococcus type 6A capsular polysaccharide-protein conjugates. Infect Immun (1984) 1.34
Sterol-modulated glycolipid sorting occurs in niemann-pick C1 late endosomes. J Biol Chem (2000) 1.33
Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. Proc Natl Acad Sci U S A (2000) 1.33
Immunological and catalytic quantitation of splenic glucocerebrosidase from the three clinical forms of Gaucher disease. Am J Hum Genet (1983) 1.33
Monoclonal IgM in a patient with paraproteinemic polyneuropathy binds to gangliosides containing disialosyl groups. Ann Neurol (1985) 1.32
The evolutionary origins of hormones, neurotransmitters, and other extracellular chemical messengers: implications for mammalian biology. N Engl J Med (1982) 1.31
Biosynthesis of glycolipids in virus-transformed cells. Biochim Biophys Acta (1974) 1.31
Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization. Proc Natl Acad Sci U S A (1999) 1.30
Development of multigene and regulated lentivirus vectors. J Virol (2000) 1.30