Published in Am J Hum Genet on November 01, 1981
Trafficking of lysosomal enzymes in normal and disease states. J Clin Invest (1986) 3.22
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases. Proc Natl Acad Sci U S A (1983) 1.71
Saposin A: second cerebrosidase activator protein. Proc Natl Acad Sci U S A (1989) 1.35
Immunological evidence for deficiency in an activator protein for sulfatide sulfatase in a variant form of metachromatic leukodystrophy. Proc Natl Acad Sci U S A (1983) 1.17
Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. Proc Natl Acad Sci U S A (1990) 1.10
Isolation of tyrosine-O-sulfate by Pronase hydrolysis from fibronectin secreted by Fujinami sarcoma virus-infected rat fibroblasts. Proc Natl Acad Sci U S A (1985) 1.08
Transcription factor Bcl11b controls selection of invariant natural killer T-cells by regulating glycolipid presentation in double-positive thymocytes. Proc Natl Acad Sci U S A (2011) 1.00
Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts. J Clin Invest (1982) 0.96
Genetic heterogeneity in metachromatic leukodystrophy. Am J Hum Genet (1982) 0.83
Nucleotide sequence of cloned cDNA for human sphingolipid activator protein 1 precursor. Proc Natl Acad Sci U S A (1987) 0.83
Functional compartments of sulphatide metabolism in cultured living cells: evidence for the involvement of a novel sulphatide-degrading pathway. Biochem J (1994) 0.82
Methionine oxidation within the cerebroside-sulfate activator protein (CSAct or Saposin B). Protein Sci (2000) 0.81
My journey into the world of sphingolipids and sphingolipidoses. Proc Jpn Acad Ser B Phys Biol Sci (2012) 0.79
Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiency. Am J Hum Genet (1992) 0.79
Heterogeneity in late-onset metachromatic leukodystrophy. Effect of inhibitors of cysteine proteinases. Am J Hum Genet (1986) 0.76
Presence of activator proteins for the enzymic hydrolysis of GM1 and GM2 gangliosides in normal human urine. Am J Hum Genet (1983) 0.76
Placental steroid deficiency: association with arylsulfatase A deficiency. Am J Hum Genet (1982) 0.75
Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro. Proc Natl Acad Sci U S A (1971) 2.53
AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. Proc Natl Acad Sci U S A (1978) 2.02
Cerebroside 3-sulfate as a physiological substrate of arylsulfatase A. Biochim Biophys Acta (1968) 1.80
Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test. Pediatr Res (1980) 1.29
A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophy. Biochem Biophys Res Commun (1971) 1.29
The activator of cerebroside sulphatase. Purification from human liver and identification as a protein. Hoppe Seylers Z Physiol Chem (1975) 1.26
An activator stimulating the enzymic hydrolysis of sphingoglycolipids. J Biol Chem (1976) 1.22
Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr Res (1979) 1.15
Purification and properties of arylsulfatase. A from human urine. J Biol Chem (1975) 1.13
Cerebroside sulfatase determination in cultured human fibroblasts. Biochim Biophys Acta (1972) 1.12
The sulphatase of ox liver. XVI. A comparison of the arylsulphatase and cerebroside sulphatase activities of sulphatase A. Biochim Biophys Acta (1973) 1.11
The activator of cerebroside-sulphatase. A model of the activation. Biochim Biophys Acta (1978) 1.10
Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophy. J Pediatr (1978) 1.08
Simplified procedure for preparation of 35S-labeled brain sulfatide. Lipids (1974) 1.00
The activator of cerebroside sulphatase. Binding studies with enzyme and substrate demonstrating the detergent function of the activator protein. Biochim Biophys Acta (1977) 0.98
Evidence for the presence of two separate protein activators for the enzymic hydrolysis of GM1 and GM2 gangliosides. J Biol Chem (1979) 0.91
Cerebroside sulphate (sulphatide) sulphohydrolase: an improved assay method. J Neurochem (1972) 0.89
An activator of cerebroside sulphatase in human normal liver and in cases of congenital metachromatic leukodystrophy. FEBS Lett (1973) 0.86
Low molecular weight proteins in secondary lysosomes as activators of different sphingolipid hydrolases. FEBS Lett (1976) 0.85
Arysulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts. Am J Hum Genet (1979) 0.85
[Activators for sphingohydrolases and the nature of the sphingomyelinase deficiency in Niemann-Pick disease types A, B and C (author's transl)]. Clin Chim Acta (1977) 0.83
The activator of cerebroside sulphatase. Lysosomal localization. Hoppe Seylers Z Physiol Chem (1976) 0.81
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet (1995) 5.83
Sequence-specific and phosphorylation-dependent proline isomerization: a potential mitotic regulatory mechanism. Science (1997) 5.40
Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation. Science (1981) 5.28
Genomewide scans of complex human diseases: true linkage is hard to find. Am J Hum Genet (2001) 3.70
Weaning from mechanical ventilation. Eur Respir J (2007) 3.59
Cellular recognition by mouse lymphocytes in vitro. I. Definition of a new technique and results of stimulation by phytohemagglutinin and specific antigens. J Exp Med (1970) 3.55
Approaches to the control and prevention of Tay-Sachs disease. Prog Med Genet (1974) 3.43
Inherited disorders of lysosomal metabolism. Annu Rev Biochem (1975) 3.26
The American Society of Human Genetics statement on cystic fibrosis screening. Am J Hum Genet (1990) 3.07
X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet (1978) 3.00
Interleukin 3: A differentiation and growth factor for the mouse mast cell that contains chondroitin sulfate E proteoglycan. J Immunol (1984) 2.85
A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts. Biochem Biophys Res Commun (1974) 2.83
[Determination of enzymatic catalysis for the cis-trans-isomerization of peptide binding in proline-containing peptides]. Biomed Biochim Acta (1984) 2.80
Pin1-dependent prolyl isomerization regulates dephosphorylation of Cdc25C and tau proteins. Mol Cell (2000) 2.77
Non-inactivation of an x-chromosome locus in man. Science (1979) 2.74
Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med (1991) 2.69
Regulation of human eosinophil viability, density, and function by granulocyte/macrophage colony-stimulating factor in the presence of 3T3 fibroblasts. J Exp Med (1987) 2.69
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nat Genet (1995) 2.66
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nat Genet (1995) 2.64
Analysis of borderline-resistant strains of methicillin-resistant Staphylococcus aureus using polymerase chain reaction. Microbiol Immunol (1992) 2.53
Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes. Proc Natl Acad Sci U S A (1984) 2.52
CD95 signaling via ceramide-rich membrane rafts. J Biol Chem (2001) 2.48
Heparin is essential for the storage of specific granule proteases in mast cells. Nature (1999) 2.34
Polypeptide flux through bacterial Hsp70: DnaK cooperates with trigger factor in chaperoning nascent chains. Cell (1999) 2.33
Partial enzyme deficiencies: residual activities and the development of neurological disorders. Dev Neurosci (1984) 2.23
Transformation with DNA from 5-azacytidine-reactivated X chromosomes. Proc Natl Acad Sci U S A (1982) 2.22
Side-chain effects on peptidyl-prolyl cis/trans isomerisation. J Mol Biol (1998) 2.21
Catalysis of protein folding by prolyl isomerase. Nature (1987) 2.21
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet (1997) 2.19
Human eosinophils have prolonged survival, enhanced functional properties, and become hypodense when exposed to human interleukin 3. J Clin Invest (1988) 2.15
Impact of exogenous beta-adrenergic receptor stimulation on hepatosplanchnic oxygen kinetics and metabolic activity in septic shock. Crit Care Med (1999) 2.14
Culture from mouse bone marrow of a subclass of mast cells possessing a distinct chondroitin sulfate proteoglycan with glycosaminoglycans rich in N-acetylgalactosamine-4,6-disulfate. J Biol Chem (1982) 2.13
Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. Proc Natl Acad Sci U S A (1979) 2.13
Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet (1992) 2.12
Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. J Neurochem (1971) 2.11
A vital role for glycosphingolipid synthesis during development and differentiation. Proc Natl Acad Sci U S A (1999) 2.05
The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. Genomics (1999) 2.04
Characterization of cspB, a Bacillus subtilis inducible cold shock gene affecting cell viability at low temperatures. J Bacteriol (1992) 2.04
Dose-response curve for anaesthetics based on the Monod-Wyman-Changeux model. Br J Anaesth (1996) 2.03
AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. Proc Natl Acad Sci U S A (1978) 2.02
The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Hum Genet (1992) 2.02
Coculture of interleukin 3-dependent mouse mast cells with fibroblasts results in a phenotypic change of the mast cells. Proc Natl Acad Sci U S A (1986) 2.00
A genome-wide search for linkage to asthma. German Asthma Genetics Group. Genomics (1999) 2.00
Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man. Proc Natl Acad Sci U S A (1980) 2.00
Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell (1987) 1.99
Interleukin 5 and phenotypically altered eosinophils in the blood of patients with the idiopathic hypereosinophilic syndrome. J Exp Med (1989) 1.97
A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder. J Clin Invest (1999) 1.96
Deficient hexozaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Life Sci (1968) 1.95
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
[Psychotherapy research--how it should (not) be done. An expert reanalysis of comparative studies by Grawe et al. (1994)]. Psychother Psychosom Med Psychol (1998) 1.92
Protein-tyrosine kinase p72syk in high affinity IgE receptor signaling. Identification as a component of pp72 and association with the receptor gamma chain after receptor aggregation. J Biol Chem (1993) 1.91
Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J Biol Chem (1991) 1.89
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
The cell surface antigen locus, MIC2X, escapes X-inactivation. Am J Hum Genet (1984) 1.84
Cell cycle-specific reactivation of an inactive X-chromosome locus by 5-azadeoxycytidine. Proc Natl Acad Sci U S A (1982) 1.84
Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus. Science (1988) 1.84
Paternal age effect in Down's syndrome. Ann Hum Genet (1977) 1.84
Mast cells that reside at different locations in the jejunum of mice infected with Trichinella spiralis exhibit sequential changes in their granule ultrastructure and chymase phenotype. J Cell Biol (1996) 1.83
Bronchoscopic needle aspiration biopsy of paratracheal tumors. Am Rev Respir Dis (1978) 1.83
Selective inactivation of parvulin-like peptidyl-prolyl cis/trans isomerases by juglone. Biochemistry (1998) 1.80
A ribosome-associated peptidyl-prolyl cis/trans isomerase identified as the trigger factor. EMBO J (1995) 1.79
Physiology and pathophysiology of sphingolipid metabolism and signaling. Biochim Biophys Acta (2000) 1.77
Different mouse mast cell populations express various combinations of at least six distinct mast cell serine proteases. Proc Natl Acad Sci U S A (1990) 1.76
Subcellular localization and membrane topology of serine palmitoyltransferase, 3-dehydrosphinganine reductase, and sphinganine N-acyltransferase in mouse liver. J Biol Chem (1992) 1.76
The refolding of urea-denatured ribonuclease A is catalyzed by peptidyl-prolyl cis-trans isomerase. Biochim Biophys Acta (1985) 1.75
Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature (1982) 1.75
Tay-Sachs screening: motives for participating and knowledge of genetics and probability. Am J Hum Genet (1976) 1.74
Nonprolyl cis peptide bonds in unfolded proteins cause complex folding kinetics. Nat Struct Biol (2001) 1.74
Incidence study of Down's syndrome in Copenhagen, 1960-1971; with chromosome investigation. Ann Hum Genet (1976) 1.72
Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum Mol Genet (1996) 1.70
Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med (1984) 1.70
Recent advances in the cellular and molecular biology of mast cells. Immunol Today (1989) 1.68
A standardized format for sequence data exchange. Protein Seq Data Anal (1987) 1.67
The L2/HNK-1 carbohydrate of neural cell adhesion molecules is involved in cell interactions. J Cell Biol (1988) 1.67
Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A. J Biol Chem (1985) 1.66
Mice expressing only monosialoganglioside GM3 exhibit lethal audiogenic seizures. J Biol Chem (2000) 1.64
Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis. Nat Genet (1996) 1.63
Treatment of opioid dependence in pregnant women. Addiction (2000) 1.63
Homology of the rat basophilic leukemia cell and the rat mucosal mast cell. Proc Natl Acad Sci U S A (1985) 1.60
Enzymatic basis of typical X-linked icthyosis. Lancet (1978) 1.60
Search for supersymmetry using final states with one lepton, jets, and missing transverse momentum with the ATLAS detector in √s=7 TeV pp collisions. Phys Rev Lett (2011) 1.60
Purification of soluble guanylyl cyclase from bovine lung by a new immunoaffinity chromatographic method. Eur J Biochem (1990) 1.60
Ganglioside metabolism. Enzymology, Topology, and regulation. J Biol Chem (1993) 1.59
Enzymes that catalyse the restructuring of proteins. Curr Opin Struct Biol (2000) 1.58
In vitro activation of the contact (Hageman factor) system of plasma by heparin and chondroitin sulfate E. Blood (1984) 1.58
Differential expression of secretory granule proteases in mouse mast cells exposed to interleukin 3 and c-kit ligand. J Exp Med (1992) 1.56
Confirmation of the existence of a third family among peptidyl-prolyl cis/trans isomerases. Amino acid sequence and recombinant production of parvulin. FEBS Lett (1994) 1.56
Catalysis of protein folding by cyclophilins from different species. J Biol Chem (1991) 1.56
Steroid sulfatase deficiency. Pediatr Res (1977) 1.56
IgE-mediated release of leukotriene C4, chondroitin sulfate E proteoglycan, beta-hexosaminidase, and histamine from cultured bone marrow-derived mouse mast cells. J Exp Med (1983) 1.56
Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am J Hum Genet (1991) 1.55
Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts. EMBO J (1989) 1.55
Identification and molecular cloning of a novel mouse mucosal mast cell serine protease. J Biol Chem (1990) 1.55
Neurite outgrowth patterns in cerebellar microexplant cultures are affected by antibodies to the cell surface glycoprotein L1. J Neurosci (1986) 1.55
Human and mouse amelogenin gene loci are on the sex chromosomes. Genomics (1989) 1.54