Published in Methods Enzymol on January 01, 1978
Cytolytic activity of purified cytoplasmic granules from cytotoxic rat large granular lymphocyte tumors. J Exp Med (1984) 3.06
Building a multichain receptor: synthesis, degradation, and assembly of the T-cell antigen receptor. Proc Natl Acad Sci U S A (1987) 2.58
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
Exocytosis of pinocytic contents by Chinese hamster ovary cells. J Cell Biol (1982) 1.79
Monensin inhibits intracellular dissociation of asialoglycoproteins from their receptor. J Cell Biol (1983) 1.77
A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). J Inherit Metab Dis (2001) 1.49
Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I. Am J Pathol (1982) 1.48
Expression of human cathepsin D in Xenopus oocytes: phosphorylation and intracellular targeting. J Cell Biol (1987) 1.40
A canine model of human alpha-L-iduronidase deficiency. Proc Natl Acad Sci U S A (1983) 1.20
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region. Am J Hum Genet (1995) 1.18
Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl. Am J Hum Genet (1991) 1.17
Evidence that diphtheria toxin and modeccin enter the cytosol from different vesicular compartments. J Cell Biol (1984) 1.08
Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J (2009) 1.02
Rapid cell surface appearance of endocytic membrane proteins in Chinese hamster ovary cells. Mol Cell Biol (1981) 1.01
Structure of heparan sulphate oligosaccharides and their degradation by exo-enzymes. Biochem J (1979) 1.00
Experimental animal model for mucopolysaccharidosis: suramin-induced glycosaminoglycan and sphingolipid accumulation in the rat. Proc Natl Acad Sci U S A (1980) 0.95
Postendocytic maturation of acid hydrolases: evidence of prelysosomal processing. J Cell Biol (1987) 0.93
Lysosomal accumulation of the hormone-receptor complex during receptor-mediated endocytosis of human choriogonadotropin. J Cell Biol (1984) 0.93
The Alzheimer beta-amyloid protein precursor/protease nexin-II is cleaved by secretase in a trans-Golgi secretory compartment in human neuroglioma cells. Biochem J (1993) 0.92
Variants of vaccinia virus hemagglutinin altered in intracellular transport. Mol Cell Biol (1986) 0.89
Lysosomal enzyme trafficking in mannose 6-phosphate receptor-positive mouse L-cells: demonstration of a steady state accumulation of phosphorylated acid hydrolases. J Cell Biol (1986) 0.89
Cell- and ligand-specific dephosphorylation of acid hydrolases: evidence that the mannose 6-phosphatase is controlled by compartmentalization. J Cell Biol (1991) 0.87
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis. J Inherit Metab Dis (2006) 0.87
Detection of hunter heterozygotes by enzymatic analysis of hair roots. Am J Hum Genet (1979) 0.86
Impaired clearance of free cystine from lysosome-enriched granular fractions of I-cell-disease fibroblasts. Biochem J (1986) 0.84
Serum factors alter the extent of dephosphorylation of ligands endocytosed via the mannose 6-phosphate/insulin-like growth factor II receptor. J Cell Biol (1989) 0.84
Basic fibroblast growth factor does not prevent heparan sulphate proteoglycan catabolism in intact cells, but it alters the distribution of the glycosaminoglycan degradation products. Biochem J (1999) 0.84
Limited and selective transfer of plasma membrane glycoproteins to membrane of secondary lysosomes. J Cell Biol (1986) 0.83
Glucuronate-2-sulphatase activity in cultured human skin fibroblast homogenates. Biochem J (1991) 0.78
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients. Korean J Pediatr (2012) 0.77
Complementation of multiple sulfatase deficiency in somatic cell hybrids. Am J Hum Genet (1984) 0.77
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru. Mol Genet Metab Rep (2014) 0.75
Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells. J Med Genet (1984) 0.75
Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight. J Biol Chem (1980) 6.60
Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med (2001) 4.28
A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. Biochem Biophys Res Commun (1972) 4.25
Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts. Cell (1977) 3.79
Two species of lysosomal organelles in cultured human fibroblasts. Cell (1979) 3.64
Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues. J Biol Chem (1980) 3.48
Inherited disorders of lysosomal metabolism. Annu Rev Biochem (1975) 3.26
The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide. Proc Natl Acad Sci U S A (1968) 2.89
A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts. Biochem Biophys Res Commun (1974) 2.83
Biosynthesis and turnover of the mannose 6-phosphate receptor in cultured Chinese hamster ovary cells. J Biol Chem (1983) 2.73
Fertility and ageing. Hum Reprod Update (2005) 2.68
Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet (1972) 2.65
Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science (1968) 2.40
The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase. Proc Natl Acad Sci U S A (1972) 2.32
The transport of lysosomal enzymes. J Supramol Struct (1977) 2.22
SUGAR NUCLEOTIDES IN THE INTERCONVERSION OF CARBOHYDRATES IN HIGHER PLANTS. Proc Natl Acad Sci U S A (1959) 2.03
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain. Proc Natl Acad Sci U S A (1985) 2.03
Cytogenetics of infertile men. Hum Reprod (1996) 2.00
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
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
Pitfalls in the diagnosis of mtDNA mutations. J Med Genet (1998) 1.93
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci U S A (1973) 1.86
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
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet (2001) 1.84
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
Mental development of 201 ICSI children at 2 years of age. Lancet (1998) 1.79
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
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
Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts. J Biol Chem (1984) 1.75
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat (2000) 1.75
Corrective factors for inborn errors of mucopolysaccharide metabolism. Ann N Y Acad Sci (1971) 1.65
Developmental outcome at 2 years of age for children born after ICSI compared with children born after IVF. Hum Reprod (2003) 1.62
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
Formation of galactolipids by chloroplasts. Biochem Biophys Res Commun (1964) 1.61
Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells. Protein Expr Purif (1994) 1.55
Study of DNA-methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects. Mol Hum Reprod (2000) 1.55
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
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
Preimplantation genetic screening does not improve delivery rate in women under the age of 36 following single-embryo transfer. Hum Reprod (2008) 1.49
Inhibition of receptor-mediated uptake of a lysosomal enzyme into fibroblasts by chloroquine, procaine and ammonia. Exp Cell Res (1979) 1.49
Enzyme replacement in a canine model of Hurler syndrome. Proc Natl Acad Sci U S A (1994) 1.49
Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens. Mol Hum Reprod (1999) 1.48
Optimization and evaluation of single-cell whole-genome multiple displacement amplification. Hum Mutat (2006) 1.48
Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I. Am J Pathol (1982) 1.48
Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med (1996) 1.48
A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts. Arch Biochem Biophys (1973) 1.45
Derivation of human embryonic stem cell lines from embryos obtained after IVF and after PGD for monogenic disorders. Hum Reprod (2005) 1.44
Maturation of alpha-L-iduronidase in cultured human fibroblasts. J Biol Chem (1981) 1.44
Comparison of the aneuploidy frequency in embryos derived from testicular sperm extraction in obstructive and non-obstructive azoospermic men. Hum Reprod (2004) 1.43
The Hurler corrective factor. Purification and some properties. J Biol Chem (1971) 1.43
Single embryo transfer in preimplantation genetic diagnosis cycles for women <36 years does not reduce delivery rate. Hum Reprod (2007) 1.42
The Sanfilippo A corrective factor. Purification and mode of action. J Biol Chem (1972) 1.41
The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A (1996) 1.41
Human kidney alpha-L-iduronidase: purification and characterization. Arch Biochem Biophys (1978) 1.39
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
Inborn errors of mucopolysaccharide metabolism. Science (1970) 1.38
Incorporation of D-xylose-C14 into glycoprotein by particles from hen oviduct. Biochem Biophys Res Commun (1966) 1.37
Nonsense-mediated decay of human HEXA mRNA. Mol Cell Biol (2001) 1.35
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
Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men. Hum Reprod (2000) 1.32
Oct-4 mRNA and protein expression during human preimplantation development. Mol Hum Reprod (2005) 1.31
Scheie and Hurler syndromes: apparent identity of the biochemical defect. Science (1970) 1.30
Neonatal outcome of 937 children born after transfer of cryopreserved embryos obtained by ICSI and IVF and comparison with outcome data of fresh ICSI and IVF cycles. Hum Reprod (2008) 1.30
A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene. Hum Genet (1998) 1.29
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics (1992) 1.28
The use of epididymal and testicular spermatozoa for intracytoplasmic sperm injection: the genetic implications for male infertility. Hum Reprod (1995) 1.27
Epithelial-mesenchymal transition process in human embryonic stem cells cultured in feeder-free conditions. Mol Hum Reprod (2006) 1.26
Chorionic gonadotrophin-beta mRNA, a trophoblast marker, is expressed in human 8-cell embryos derived from tripronucleate zygotes. Hum Reprod (1988) 1.24
Limited proteolysis of the beta-hexosaminidase precursor in a cell-free system. J Biol Chem (1981) 1.23
A canine model of human alpha-L-iduronidase deficiency. Proc Natl Acad Sci U S A (1983) 1.20
Glycosylation of serine residues by a uridine diphosphate-xylose: protein xylosyltransferase from mouse mastocytoma. Arch Biochem Biophys (1966) 1.20
Validation of a simple Yq deletion screening programme in an ICSI candidate population. Mol Hum Reprod (2000) 1.18
Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells. Arch Biochem Biophys (1973) 1.18
Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene. Lancet (1991) 1.17
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet (1977) 1.17
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
An assay for iduronate sulfatase (Hunter corrective factor). Carbohydr Res (1974) 1.16
Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog. J Biol Chem (1992) 1.15
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
Epigenetic risks related to assisted reproductive technologies: risk analysis and epigenetic inheritance. Hum Reprod (2002) 1.14
Follow-up of children born after ICSI. Hum Reprod Update (2002) 1.14
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
Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals. Pediatr Res (1982) 1.13
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
Biochemical heterogeneity of the Sanfilippo syndrome: preliminary characterization of two deficient factors. Biochem Biophys Res Commun (1971) 1.12
GSK-3-specific inhibitor-supplemented hESC medium prevents the epithelial-mesenchymal transition process and the up-regulation of matrix metalloproteinases in hESCs cultured in feeder-free conditions. Mol Hum Reprod (2008) 1.12
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency. J Biol Chem (1984) 1.12