PubRank

E F Neufeld

Author PubWeight™ 157.50‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight. J Biol Chem 1980 6.60
2 Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001 4.28
3 A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. Biochem Biophys Res Commun 1972 4.25
4 Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts. Cell 1977 3.79
5 Two species of lysosomal organelles in cultured human fibroblasts. Cell 1979 3.64
6 Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues. J Biol Chem 1980 3.48
7 Inherited disorders of lysosomal metabolism. Annu Rev Biochem 1975 3.26
8 The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide. Proc Natl Acad Sci U S A 1968 2.89
9 A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts. Biochem Biophys Res Commun 1974 2.83
10 Biosynthesis and turnover of the mannose 6-phosphate receptor in cultured Chinese hamster ovary cells. J Biol Chem 1983 2.73
11 Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet 1972 2.65
12 Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 1968 2.40
13 The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase. Proc Natl Acad Sci U S A 1972 2.32
14 The transport of lysosomal enzymes. J Supramol Struct 1977 2.22
15 SUGAR NUCLEOTIDES IN THE INTERCONVERSION OF CARBOHYDRATES IN HIGHER PLANTS. Proc Natl Acad Sci U S A 1959 2.03
16 Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain. Proc Natl Acad Sci U S A 1985 2.03
17 Direct demonstration of binding of a lysosomal enzyme, alpha-L-iduronidase, to receptors on cultured fibroblasts. Proc Natl Acad Sci U S A 1979 1.97
18 Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. Am J Hum Genet 1990 1.94
19 Enzymic diagnosis of the genetic mucopolysaccharide storage disorders. Methods Enzymol 1978 1.89
20 The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci U S A 1973 1.86
21 Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase. Proc Natl Acad Sci U S A 1989 1.86
22 Morphologic study of the internalization of a lysosomal enzyme by the mannose 6-phosphate receptor in cultured Chinese hamster ovary cells. Proc Natl Acad Sci U S A 1981 1.81
23 Is there a mechanism for introducing acid hydrolases into liver lysosomes that is independent of mannose 6-phosphate recognition? Evidence from I-cell disease. Biochem Biophys Res Commun 1982 1.79
24 Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc Natl Acad Sci U S A 1999 1.79
25 Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts. J Biol Chem 1984 1.75
26 Corrective factors for inborn errors of mucopolysaccharide metabolism. Ann N Y Acad Sci 1971 1.65
27 Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease. Proc Natl Acad Sci U S A 1982 1.61
28 Formation of galactolipids by chloroplasts. Biochem Biophys Res Commun 1964 1.61
29 Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells. Protein Expr Purif 1994 1.55
30 The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation. Proc Natl Acad Sci U S A 1969 1.53
31 METABOLISM OF MYO-INOSITOL IN PLANTS: CONVERSION TO PECTIN, HEMICELLULOSE, D-XYLOSE, AND SUGAR ACIDS. Proc Natl Acad Sci U S A 1962 1.53
32 Enzyme replacement in a canine model of Hurler syndrome. Proc Natl Acad Sci U S A 1994 1.49
33 Inhibition of receptor-mediated uptake of a lysosomal enzyme into fibroblasts by chloroquine, procaine and ammonia. Exp Cell Res 1979 1.49
34 Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I. Am J Pathol 1982 1.48
35 Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med 1996 1.48
36 A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts. Arch Biochem Biophys 1973 1.45
37 Maturation of alpha-L-iduronidase in cultured human fibroblasts. J Biol Chem 1981 1.44
38 The Hurler corrective factor. Purification and some properties. J Biol Chem 1971 1.43
39 The Sanfilippo A corrective factor. Purification and mode of action. J Biol Chem 1972 1.41
40 The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A 1996 1.41
41 Human kidney alpha-L-iduronidase: purification and characterization. Arch Biochem Biophys 1978 1.39
42 Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet 1993 1.38
43 Inborn errors of mucopolysaccharide metabolism. Science 1970 1.38
44 Incorporation of D-xylose-C14 into glycoprotein by particles from hen oviduct. Biochem Biophys Res Commun 1966 1.37
45 Nonsense-mediated decay of human HEXA mRNA. Mol Cell Biol 2001 1.35
46 Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles. Cell Mol Biol (Noisy-le-grand) 1994 1.34
47 Scheie and Hurler syndromes: apparent identity of the biochemical defect. Science 1970 1.30
48 Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics 1992 1.28
49 Limited proteolysis of the beta-hexosaminidase precursor in a cell-free system. J Biol Chem 1981 1.23
50 A canine model of human alpha-L-iduronidase deficiency. Proc Natl Acad Sci U S A 1983 1.20
51 Glycosylation of serine residues by a uridine diphosphate-xylose: protein xylosyltransferase from mouse mastocytoma. Arch Biochem Biophys 1966 1.20
52 Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells. Arch Biochem Biophys 1973 1.18
53 The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet 1977 1.17
54 A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase. J Biol Chem 1989 1.17
55 An assay for iduronate sulfatase (Hunter corrective factor). Carbohydr Res 1974 1.16
56 Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog. J Biol Chem 1992 1.15
57 Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. J Biol Chem 1990 1.15
58 A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene. Am J Hum Genet 1991 1.14
59 Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals. Pediatr Res 1982 1.13
60 Simulation of genetic mucopolysaccharidoses in normal human fibroblasts by alteration of pH of the medium. Proc Natl Acad Sci U S A 1972 1.13
61 Biochemical heterogeneity of the Sanfilippo syndrome: preliminary characterization of two deficient factors. Biochem Biophys Res Commun 1971 1.12
62 Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency. J Biol Chem 1984 1.12
63 Complex heterosaccharides of animals. Annu Rev Biochem 1969 1.11
64 Morphologic and biochemical studies of canine mucopolysaccharidosis I. Am J Pathol 1984 1.11
65 The Hunter corrective factor. Purification and preliminary characterization. J Biol Chem 1972 1.11
66 Iduronate sulfatase in amniotic fluid: an aid in the prenatal diagnosis of the hunter syndrome. J Pediatr 1977 1.10
67 NAGLU mutations underlying Sanfilippo syndrome type B. Am J Hum Genet 1998 1.08
68 X-linked Hunter syndrome: the heterozygous phenotype in cell culture. Am J Hum Genet 1977 1.07
69 Purification and characterization of recombinant human alpha-N-acetylglucosaminidase secreted by Chinese hamster ovary cells. Protein Expr Purif 2000 1.06
70 Intrauterine diagnosis of the hurler and hunter syndromes. N Engl J Med 1969 1.03
71 The uptake of enzymes into lysosomes: an overview. Birth Defects Orig Artic Ser 1980 1.02
72 alpha-L-iduronidase forms semi-crystalline spherulites with amyloid-like properties. Acta Crystallogr D Biol Crystallogr 2000 1.01
73 Transfer of N-acetylneuraminic acid to incomplete glycoproteins associated with microsomes. Biochim Biophys Acta 1966 1.00
74 A rapid and sensitive assay for neuraminidase: application to cultured fibroblasts. Anal Biochem 1979 0.98
75 Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity. Biochem Biophys Res Commun 1983 0.96
76 The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features. Pediatrics 1976 0.96
77 Iduronate sulfatase from human plasma. Methods Enzymol 1982 0.95
78 Proteolytic processing of the beta-subunit of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts. J Biol Chem 1989 0.95
79 The relationship of alpha-L-iduronidase and Hurler corrective factor. Arch Biochem Biophys 1976 0.95
80 Normal transcription of the beta-hexosaminidase alpha-chain gene in the Ashkenazi Tay-Sachs mutation. J Biol Chem 1988 0.95
81 Lessons from genetic disorders of lysosomes. Harvey Lect 1982 0.95
82 Neurochemical characterization of canine alpha-L-iduronidase deficiency disease (model of human mucopolysaccharidosis I). J Neurochem 1985 0.94
83 The biochemical basis for mucopolysaccharidoses and mucolipidoses. Prog Med Genet 1974 0.93
84 A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease. Am J Hum Genet 1987 0.93
85 Iduronate sulfatase determination for the diagnosis of the Hunter syndrome and the detection of the carrier state. Adv Exp Med Biol 1976 0.92
86 Proteolytic processing of the alpha-chain of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts. J Biol Chem 1988 0.91
87 Carbohydrate structures of recombinant human alpha-L-iduronidase secreted by Chinese hamster ovary cells. J Biol Chem 1997 0.90
88 A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH). Hum Mutat 1993 0.89
89 Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele. Hum Mutat 1993 0.89
90 Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase. J Biol Chem 1990 0.88
91 Detection of hunter heterozygotes by enzymatic analysis of hair roots. Am J Hum Genet 1979 0.86
92 Defective phosphorylation and processing of beta-hexosaminidase by intact cultured fibroblasts from patients with mucolipidosis III. Arch Biochem Biophys 1982 0.86
93 p-Isothiocyanatophenyl 6-phospho-alpha-D-mannopyranoside coupled to albumin. A model compound recognized by the fibroblast lysosomal enzyme uptake system. 2. Biological properties. Biochemistry 1980 0.85
94 The Hunter syndrome in a 46 XX girl. N Engl J Med 1973 0.85
95 Short-term enzyme replacement in the murine model of Sanfilippo syndrome type B. Mol Genet Metab 2000 0.85
96 Characterization of the factor deficient in the Hunter syndrome by polyacrylamide gel electrophoresis. Biochem Biophys Res Commun 1970 0.84
97 Two abnormalities of hexosaminidase A in clinically normal individuals. Am J Hum Genet 1986 0.83
98 A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH). Hum Mutat 1994 0.83
99 A distinct biochemical deficit in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI). J Pediatr 1972 0.80
100 Stimulation of a protein glycosylation reaction by lysozyme. Biochim Biophys Acta 1969 0.78
101 Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). Hum Mutat 1995 0.78
102 ENZYMATIC SYNTHESIS OF URIDINE DIPHOSPHATE XYLOSE AND URIDINE DIPHOSPHATE ARABINOSE. Proc Natl Acad Sci U S A 1956 0.78
103 Replacement of genotype-specific proteins in mucopolysaccharidoses. Birth Defects Orig Artic Ser 1973 0.77
104 Formation of GDP-L-galactose from GDP-D-mannose. Biochem Biophys Res Commun 1967 0.77
105 A radioactive substrate and assay for alpha-L-iduronidase. Clin Chim Acta 1977 0.77
106 Attempted enzyme replacement using human amnion membrane implantations in mucopolysaccharidoses. J Inherit Metab Dis 1992 0.76
107 Allelism, non-allelism and genetic compounds among the mucopolysaccharidoses: corrective factors in nosology, genetics and therapy. Trans Assoc Am Physicians 1972 0.76
108 Biochemical studies in mucolipidoses II and III. Birth Defects Orig Artic Ser 1975 0.75
109 Isolation of GDP-L-galactose from the albumen gland of Helix pomatia. Biochim Biophys Acta 1966 0.75
110 Administration of iduronate sulfatase by plasma exchange to patients with the Hunter syndrome: a clinical study. Am J Med Genet 1982 0.75
111 Studies of lysosomal enzyme biosynthesis in cultured cells. Methods Enzymol 1983 0.75
112 Metabolism of sulfated mucopolysaccharide in cultured fibroblasts from cystic fibrosis patients. J Pediatr 1970 0.75
113 Genetic diseases of mucopolysaccharide catabolism; single-enzyme deficiency disorders. Ups J Med Sci 1977 0.75
114 A cystic fibrosis phenotype in cells cultured from sweat gland secretory coil. Altered kinetics of 36Cl efflux. J Biol Chem 1990 0.75
115 The William Allan Memorial Award address: cell mixing and its sequelae. Am J Hum Genet 1983 0.75
116 Pleiotropic mutations of lysosomal function in human patients and in Chinese hamster ovary cells. Prog Clin Biol Res 1982 0.75