Roscoe O. Brady

Q: What Schools Are Affiliated With Roscoe O. Brady

Roscoe O. Brady is affiliated with the following schools: Duke University, University of Pennsylvania, University of Vermont, McGill University, Riken, Icahn School of Medicine at Mount Sinai, Johns Hopkins University, University of Toronto

Roscoe O. Brady's AcademicInfluence.com Rankings

Roscoe O. Brady

Philosophy

#2424

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#4150

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Logic

#577

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#1040

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philosophy Degrees

Roscoe O. Brady

Biology

#2789

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#4373

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Molecular Biology

#176

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#180

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Genetics

#179

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#220

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Biochemistry

#237

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#297

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biology Degrees

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Roscoe O. Brady's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. (1997) (1404)
Enzyme replacement therapy in Fabry disease: a randomized controlled trial. (2001) (1198)
Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. (1991) (1152)
D-serine is an endogenous ligand for the glycine site of the N-methyl-D-aspartate receptor. (2000) (1062)
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. (1967) (967)
Targeted disruption of the cyclin-dependent kinase 5 gene results in abnormal corticogenesis, neuronal pathology and perinatal death. (1996) (927)
METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE. (1965) (713)
Biosynthesis and function of gangliosides. (1976) (684)
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy (2003) (671)
Lysosomal Storage Diseases (1986) (650)
Elevated globotriaosylsphingosine is a hallmark of Fabry disease (2008) (594)
Purification of serine racemase: biosynthesis of the neuromodulator D-serine. (1999) (471)
Natural History of Fabry Renal Disease: Influence of α-Galactosidase A Activity and Genetic Mutations on Clinical Course (2002) (435)
Transduction of nondividing cells using pseudotyped defective high-titer HIV type 1 particles. (1996) (401)
The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo* (1999) (372)
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. (1966) (363)
Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. (1990) (360)
A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. (1985) (360)
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. (1966) (351)
High-Titer Human Immunodeficiency Virus Type 1-Based Vector Systems for Gene Delivery into Nondividing Cells (1998) (322)
Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease (2000) (312)
alpha-Galactosidase A deficient mice: a model of Fabry disease. (1997) (292)
Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease. (1973) (290)
Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease. (1974) (275)
Regulation of NMDA receptors by cyclin-dependent kinase-5 (2001) (270)
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. (2006) (261)
IgM in a human neuropathy related to paraproteinemia binds to a carbohydrate determinant in the myelin-associated glycoprotein and to a ganglioside. (1984) (254)
Regional Cerebral Hyperperfusion and Nitric Oxide Pathway Dysregulation in Fabry Disease: Reversal by Enzyme Replacement Therapy (2001) (252)
Childhood ataxia with diffuse central nervous system hypomyelination (1994) (251)
Chemical chaperone therapy for brain pathology in GM1-gangliosidosis (2003) (250)
Enzyme replacement for lysosomal diseases. (2006) (246)
THE METABOLISM OF GLUCOCEREBROSIDES. I. PURIFICATION AND PROPERTIES OF A GLUCOCEREBROSIDE-CLEAVING ENZYME FROM SPLEEN TISSUE. (1965) (232)
The enzymatic synthesis of inositol phosphatide. (1958) (230)
Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. (1988) (223)
Functional incorporation of ganglioside into intact cells: induction of choleragen responsiveness. (1976) (211)
EVIDENCE FOR THE CLOSE ASSOCIATION OF A GLYCOPROTEIN WITH MYELIN IN RAT BRAIN (1973) (209)
Biosynthesis of Fatty Acids I. STUDIES WITH ENZYMES OBTAINED FROM LIVER (1960) (206)
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease (2003) (200)
Pediatric Fabry Disease (2005) (197)
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. (1988) (195)
Monoclonal IgM in a patient with paraproteinemic polyneuropathy binds to gangliosides containing disialosyl groups (1985) (185)
Group C Niemann‐Pick disease: faulty regulation of low‐density lipoprotein uptake and cholesterol storage in cultured fibroblasts (1987) (178)
Metachromatic Leukodystrophy: Diagnosis with Samples of Venous Blood (1968) (177)
Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients (1988) (175)
Thyrotropin-ganglioside interactions and their relationship to the structure and function of thyrotropin receptors. (1976) (171)
The metabolism of sphingomyelin. I. Purification and properties of a sphingomyelin-cleaving enzyme from rat liver tissue. (1966) (170)
Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease. (1999) (169)
A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol. (1984) (169)
Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablation. (1998) (168)
A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. (1980) (167)
Biosynthesis of glycolipids in virus-transformed cells. (1974) (166)
Fabry Disease , an UnderRecognized Multisystemic Disorder : Expert Recommendations for Diagnosis , Management , and Enzyme Replacement Therapy (2003) (162)
Elevated Cerebral Blood Flow Velocities in Fabry Disease With Reversal After Enzyme Replacement (2002) (162)
Enzyme replacement therapy in Fabry disease (2001) (160)
Lactosylceramide galactosidase: comparison with other sphingolipid hydrolases in developing rat brain. (1969) (157)
Murine models of acute neuronopathic Gaucher disease (2007) (157)
Clinical features of and recent advances in therapy for Fabry disease. (2000) (156)
Liposomal vaccines with conformation-specific amyloid peptide antigens define immune response and efficacy in APP transgenic mice (2007) (155)
Migration Defects of cdk5−/− Neurons in the Developing Cerebellum is Cell Autonomous (1999) (154)
Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation. (2000) (154)
Clinical spectrum of Niemann‐Pick disease type C (1989) (153)
The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease. (2001) (150)
Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization. (1999) (149)
THE DISTRIBUTION AND METABOLISM OF LYSERGIC ACID DIETHYLAMIDE (1957) (142)
Susceptibility of the Myelin‐Associated Glycoprotein and Basic Protein to a Neutral Protease in Highly Purified Myelin from Human and Rat Brain (1982) (142)
THE ENZYMATIC SYNTHESIS OF FATTY ACIDS BY ALDOL CONDENSATION. (1958) (141)
Gaucher cells in chronic myelocytic leukemia: an acquired abnormality. (1969) (140)
Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice (2001) (136)
Disorders of lipid metabolism. (1973) (136)
Isolation and characterization of glucocerebrosidase from human placental tissue. (1973) (135)
Real-time image-guided direct convective perfusion of intrinsic brainstem lesions. Technical note. (2007) (129)
Gangliosides in DNA virus-transformed and spontaneously transformed tumorigenic mouse cell lines. (1969) (128)
A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease. (1975) (127)
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. (2007) (127)
EVIDENCE THAT THE MAJOR PROTEIN IN RAT SCIATIC NERVE MYELIN IS A GLYCOPROTEIN (1973) (126)
Effective cell and gene therapy in a murine model of Gaucher disease (2006) (126)
Development of Multigene and Regulated Lentivirus Vectors (2000) (125)
Cell-mediated immunity to myelin-associated glycoprotein, proteolipid protein, and myelin basic protein in multiple sclerosis (1986) (125)
Engineering a lysosomal enzyme with a derivative of receptor-binding domain of apoE enables delivery across the blood–brain barrier (2013) (124)
The neutral glycosphingolipid globotriaosylceramide promotes fusion mediated by a CD4-dependent CXCR4-utilizing HIV type 1 envelope glycoprotein. (1998) (124)
Enzyme-Replacement Therapy With Agalsidase Alfa in Children With Fabry Disease (2006) (123)
Synergistic contributions of cyclin-dependant kinase 5/p35 and Reelin/Dab1 to the positioning of cortical neurons in the developing mouse brain (2001) (123)
Variation of proteins, enzyme markers and gangliosides in myelin subfractions. (1973) (123)
The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol. (1994) (119)
Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease (1993) (118)
Lysosomal alpha-galactosidase controls the generation of self lipid antigens for natural killer T cells. (2010) (117)
Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease. (1969) (117)
Cyclin-dependent kinase 5 activity regulates pain signaling. (2006) (116)
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. (2000) (114)
SYNTHESIS OF GLYCOPROTEINS AND GANGLIO‐SIDES IN DEVELOPING RAT BRAIN (1971) (114)
THE SYNTHESIS OF MALONYL-C14 COENZYME A (1960) (113)
Prospective study of neurological responses to treatment with macrophage‐targeted glucocerebrosidase in patients with type 3 Gaucher's disease (1997) (109)
Fabry's Disease: Antenatal Detection (1971) (108)
High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease. (1996) (108)
The lysosomal localization of sphingolipid hydrolases. (1968) (108)
Cyclin-dependent kinase 5 modulates nociceptive signaling through direct phosphorylation of transient receptor potential vanilloid 1 (2007) (107)
Enzyme replacement therapy in Gaucher's disease: large-scale purification of glucocerebrosidase suitable for human administration. (1977) (107)
Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. (1996) (107)
Induction of glycolipid biosynthesis by sodium butyrate in HeLa cells. (1974) (106)
Structure of the N-asparagine-linked oligosaccharide units of human placental beta-glucocerebrosidase. (1984) (106)
The effect of cholesterol‐lowering agents on hepatic and plasma cholesterol in Niemann‐Pick disease type C (1993) (106)
Enzymatic block in the synthesis of gangliosides in DNA virus-transformed tumorigenic mouse cell lines. (1970) (105)
Isolation and relationship of human hexosaminidases. (1974) (103)
The incorporation of galactose into galactolipides. (1958) (103)
Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport. (1991) (102)
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease (2004) (100)
Morphological alterations and ganglioside sialyltransferase activity induced by small fatty acids in HeLa cells (1975) (100)
The role of neurogenetics in Gaucher disease. (1993) (99)
Neuronal Cyclin-Dependent Kinase 5 Activity Is Critical for Survival (2001) (97)
The enzymatic synthesis of sphingosine. (1958) (97)
Sulfated glucuronyl glycolipids reacting with anti-myelin-associated glycoprotein monoclonal antibodies including IgM paraproteins in neuropathy: Species distribution and partial characterization of epitopes (1986) (95)
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. (1993) (95)
Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease (2007) (95)
Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease. (1982) (95)
Biosynthesis of labeled fatty acids and cholesterol in experimental diabetes. (1950) (93)
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease (2014) (92)
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome) (1992) (92)
Bioluminescent imaging of a marking transgene and correction of Fabry mice by neonatal injection of recombinant lentiviral vectors. (2004) (91)
Polyneuropathy with monoclonal gammopathy: glycolipids are frequently antigens for IgM paraproteins. (1985) (91)
Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice. (1999) (91)
Enzyme-replacement therapy for metabolic storage disorders (2004) (90)
The use of white cells as a source of diagnostic material for lipid storage diseases. (1969) (89)
Quantitative chemical shift imaging of vertebral bone marrow in patients with Gaucher disease. (1992) (89)
Constitutive achlorhydria in mucolipidosis type IV. (1998) (88)
Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts. (1972) (88)
Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease. (1990) (88)
Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. (2000) (87)
Myelin-associated glycoprotein: a developmental change. (1973) (87)
Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease. (1969) (86)
Composition and synthesis of gangliosides in rat hepatocyte and hepatoma cell lines. (1969) (86)
Cholera toxin interactions with thyrotropin receptors on thyroid plasma membranes. (1976) (85)
Biosynthesis of fatty acids by cell-free or water-soluble enzyme systems. (1952) (85)
The uptake of native and desialylated glucocerebrosidase by rat hepatocytes and Kupffer cells. (1978) (85)
Retroviral coexpression of a multidrug resistance gene (MDR1) and human alpha-galactosidase A for gene therapy of Fabry disease. (1995) (85)
Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3 (2003) (84)
The monoclonal antibody HNK-1 reacts with a human peripheral nerve ganglioside. (1984) (83)
Purification and properties of the two major isozymes of alpha-galactosidase from human placenta. (1978) (83)
Cocaine detoxification by human plasma butyrylcholinesterase. (1997) (83)
Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease (2011) (83)
Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer (2003) (82)
Biosynthesis of radioactive testosterone in vitro. (1951) (82)
Increased activity of cyclin-dependent kinase 5 leads to attenuation of cocaine-mediated dopamine signaling. (2005) (81)
The biosynthesis of radioactive fatty acids and cholesterol. (1950) (81)
Selective effects of glucocerebroside (Gaucher's storage material) on macrophage cultures. (1981) (80)
Enzyme replacement therapy and intraepidermal innervation density in Fabry disease (2006) (80)
Antibodies to Myelin-Associated Glycoprotein (MAG) in the cerebrospinal fluid of multiple sclerosis patients (1989) (79)
Analogous reactions for the biosynthesis of monosialo- and disialo-gangliosides in brain. (1971) (78)
Therapeutic use of butyrylcholinesterase for cocaine intoxication. (1997) (78)
Experimental animal model for mucopolysaccharidosis: suramin-induced glycosaminoglycan and sphingolipid accumulation in the rat. (1980) (78)
The metabolism of glucocerebrosides. 3. Purification and properties of a glucosyl- and galactosylceramide-cleaving enzyme from rat intestinal tissue. (1965) (77)
A clinical staging classification for type C Niemann‐Pick disease (1992) (77)
Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination (1995) (76)
Delivery of hexosaminidase A to the cerebrum after osmotic modification of the blood--brain barrier. (1981) (76)
Hypomyelination in copper-deficient rats. Prenatal and postnatal copper replacement. (1976) (75)
Gaucher disease: abdominal MR imaging findings in 46 patients. (1992) (75)
Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease. (1973) (75)
Enzyme replacement therapy: conception, chaos and culmination. (2003) (74)
Identification of heterozygous carriers of lipid storage diseases. Current status and clinical applications. (1971) (74)
Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. (2006) (73)
Histone deacetylase inhibitors are neuroprotective and preserve NGF-mediated cell survival following traumatic brain injury (2013) (73)
Quantitation of the Myelin‐Associated Glycoprotein in Human Nervous Tissue from Controls and Multiple Sclerosis Patients (1986) (73)
CHARACTERIZATION AND PROTEIN ANALYSIS OF MYELIN SUBFRACTIONS IN RAT BRAIN: DEVELOPMENTAL AND REGIONAL COMPARISONS (1975) (73)
The Utilization of Substituted Acyl-Coenzyme A Derivatives in Fatty Acid Synthesis. II. Studies with Enzymes Obtained from Adipose Tissue (1963) (73)
Enhanced macrophage uptake of synthetically glycosylated human placental beta-glucocerebrosidase. (1982) (72)
Type C Niemann-Pick disease: a murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver. (1992) (72)
Gene transfer into the central nervous system in vivo using a recombinanat lentivirus vector (2002) (72)
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV (2004) (71)
β-Catenin signaling initiates the activation of astrocytes and its dysregulation contributes to the pathogenesis of astrocytomas (2012) (71)
Leukodystrophy in patients with ovarian dysgenesis (1997) (70)
Synthesis of radioactive fatty acids in vitro and its hormonal control. (1951) (69)
Alteration in ganglioside pattern and synthesis in SV40-and polyoma virus-transformed mouse cell lines (1970) (69)
Fabry disease in childhood. (2004) (69)
Ganglioside biosynthesis in mouse cells: glycosyltransferase activities in normal and virally-transformed lines. (1972) (68)
THE ENZYMATIC CARBOXYLATION OF ACETYL COENZYME A (1959) (68)
Biosynthesis of bovine thyroid gangliosides. (1978) (68)
Modification of the blood-brain barrier: increased concentration and fate of enzymes entering the brain. (1979) (68)
Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones (2012) (68)
Correction in trans for Fabry disease: expression, secretion and uptake of alpha-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector. (1996) (68)
ANOMALIES OF MYELIN‐ASSOCIATED GLYCOPROTEINS IN‘QUAKING MICE (1974) (67)
Preselective gene therapy for Fabry disease (2001) (67)
Quantitative imaging of Gaucher disease. (1992) (65)
Activation of hypoxia signaling induces phenotypic transformation of glioma cells: implications for bevacizumab antiangiogenic therapy (2015) (65)
Demonstration of a glycoprotein which is associated with a purified myelin fraction from rat brain. (1972) (65)
Fluoroacetyl coenzyme A. (1955) (64)
[35-S]sulfate incorporation into myelin clycoproteins; II. Peripheral nervous tissue. (1975) (63)
A Radioimmunoassay for the Myelin‐Associated Glycoprotein (1982) (63)
Assignment of the gene coding for human β-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies (2004) (63)
The structure and function of glycoprotein hormone receptors: ganglioside interactions with human chorionic gonadotropin. (1976) (62)
A human lymphocyte antigen is shared with a group of glycoproteins in peripheral nerve (1984) (62)
The enzymatic synthesis of cobamide coenzymes. (1961) (62)
Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease (2005) (62)
A validated disease severity scoring system for Fabry disease. (2010) (61)
The Saccadic and Neurological Deficits in Type 3 Gaucher Disease (2011) (61)
The metabolism of ceramide trihexosides. I. Purification and properties of an enzyme that cleaves the terminal galactose molecule of galactosylgalactosylglucosylceramide. (1967) (60)
Chronic airflow obstruction in Fabry's disease. (1980) (60)
Preparation of radioactive Tay-Sachs ganglioside labeled in the sialic acid moiety. (1970) (60)
Niemann-Pick disease experimental model: sphingomyelinase reduction induced by AY-9944. (1977) (60)
Elevated neutral protease activity in myelin from brains of patients with multiple sclerosis (1984) (60)
In utero diagnosis of Niemann-Pick disease. (1971) (59)
ISOLATION AND CHARACTERIZATION OF MYELIN‐RELATED MEMBRANES (1978) (58)
The enzymatic synthesis of sphingosine. II. Further studies on the mechanism of the reaction. (1958) (58)
A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease (2008) (58)
Induced pluripotent stem cells derived from mouse models of lysosomal storage disorders (2010) (58)
Thyroid Gangliosides with High Affinity for Thyrotropin: Potential Role in Thyroid Regulation (1978) (58)
Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase. (2000) (57)
A common biochemical change in SV40 and polyoma virus transformed mouse cells coupled to control of cell growth in culture. (1971) (57)
Long-term in vivo expression of the human glucocerebrosidase gene in nonhuman primates after CD34+ hematopoietic cell transduction with cell-free retroviral vector preparations. (1995) (57)
Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease. (1997) (57)
CHARACTERIZATION OF THE FRACTION OBTAINED FROM THE CNS OF JIMPY MICE BY A PROCEDURE FOR MYELIN ISOLATION (1974) (57)
The isolation and characterization of sphingomyelinase from human placental tissue. (1977) (56)
Proteomics of specific treatment-related alterations in Fabry disease: A strategy to identify biological abnormalities (2007) (56)
Absence of a specific ganglioside galactosyltransferase in mouse cells transformed by murine sarcoma virus. (1974) (56)
Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease. (1992) (55)
Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease. (2000) (55)
Infantile (type II) Gaucher's disease: in utero diagnosis and fetal pathology. (1972) (54)
Inherited metabolic diseases of the nervous system. (1976) (54)
Efficient correction of Fabry mice and patient cells mediated by lentiviral transduction of hematopoietic stem/progenitor cells (2007) (54)
BIOSYNTHESIS OF FATTY ACIDS: IV. STUDIES WITH INHIBITORS. (1963) (53)
Screening for pharmacological chaperones in Fabry disease. (2007) (52)
SIALOGLYCOPROTEINS AND SEVERAL GLYCOSIDASES IN DEVELOPING RAT BRAIN (1970) (52)
Delivery of active hexosaminidase across the blood‐brain barrier in rats (1984) (52)
Perinatal abrogation of Cdk5 expression in brain results in neuronal migration defects. (2004) (52)
External labeling of galactose in surface membrane glycoproteins of the intact myelin sheath. (1976) (51)
The metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue. (1972) (51)
Amygdalin (Laetrile) and prunasin beta-glucosidases: distribution in germ-free rat and in human tumor tissue. (1981) (50)
Cerebroside synthesis in Gaucher's disease. (1960) (50)
Ganglioside catabolism in hexosaminidase A-deficient adults (1974) (50)
Missense mutations in the NF2 gene result in the quantitative loss of merlin protein and minimally affect protein intrinsic function (2011) (50)
[3 5S]Sulfate incorporation into myelin glycoproteins I. Central nervous system (1975) (49)
Enzymatic abnormalities in diseases of sphingolipid metabolism. (1967) (49)
A bicistronic therapeutic retroviral vector enables sorting of transduced CD34+ cells and corrects the enzyme deficiency in cells from Gaucher patients. (1996) (49)
Effect of gangliosides and substrate analogues on the hydrolysis of nicotinamide adenine dinucleotide by choleragen. (1977) (48)
Differential conversion of specifically labeled glucose to C14O2. (1954) (48)
Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis. (1975) (48)
Outcome of partial splenectomy for type I Gaucher disease. (1995) (48)
Lectin-specific targeting of beta-glucocerebrosidase to different liver cells via glycosylated liposomes. (1985) (47)
1 Gaucher's disease: past, present and future (1997) (47)
Niemann-Pick type-C disease: deficient intracellular transport of exogenously derived cholesterol. (1992) (47)
The distribution of glutamic decarboxylase in the nervous system of the rhesus monkey. (1959) (47)
The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C. (2005) (47)
Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide. (1998) (46)
Orthotopic Liver Transplantation in Two Adults with Niemann‐Pick and Gaucher's Diseases: Implications for the Treatment of Inherited Metabolic Disease (1993) (46)
Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences. (1989) (46)
Determination of Gaucher's disease phenotypes with monoclonal antibody. (1983) (46)
Studies in globoid (Krabbe) leukodystrophy (GLD). V. Controlled enzymic studies in ten human cases. (1970) (46)
Cultured Skin Fibroblasts Derived from Patients with Mucolipidosis 4 Are Auto-Fluorescent (1995) (45)
GANGLIOSIDE COMPOSITION AND BIOSYNTHESIS IN CULTURED CELLS DERIVED FROM CNS (1977) (45)
Neurological Mutation Characterized by Dysmyelination in NCTR‐Balb/C Mouse with Lysosomal Lipid Storage Disease (1985) (45)
The effects of citrate and coenzyme A on fatty acid metabolism. (1956) (45)
The murine Niemann-Pick type C lesion affects testosterone production. (1993) (44)
Properties of a particle-bound enzyme from rat intestine that cleaves sialic acid from Tay-Sachs ganglioside. (1971) (43)
Monoclonal antibodies against human beta-glucocerebrosidase. (1983) (43)
Circulating alpha-galactosidase A derived from transduced bone marrow cells: relevance for corrective gene transfer for Fabry disease. (1999) (43)
Studies on the total enzymatic synthesis of cerebrosides. (1962) (43)
Medical bioremediation: Prospects for the application of microbial catabolic diversity to aging and several major age-related diseases (2005) (42)
Choleragen-mediated release of trapped glucose from liposomes containing ganglioside GM1. (1976) (42)
Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice (2009) (42)
Immunochemical Studies with Gangliosides (1963) (42)
Sphingolipid metabolism in leukemic leukocytes. (1967) (42)
Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones (2013) (42)
Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease. (2004) (41)
Emerging strategies for the treatment of hereditary metabolic storage disorders. (2006) (41)
Production of human glucocerebrosidase in mice after retroviral gene transfer into multipotential hematopoietic progenitor cells. (1989) (41)
Selective hepatic uptake of human beta-hexosaminidase A by a specific glycoprotein recognition system on sinusoidal cells. (1979) (41)
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl (2010) (41)
Altered ganglioside biosynthesis in mouse cell cultures following transformation with chemical carcinogens and x-irradiation. (1975) (41)
Hexachlorophene intoxication: characterization of myelin and myelin related fractions in the rat during early postnatal development. (1974) (41)
Deficiencies in sex-regulated expression and levels of two hepatic sterol carrier proteins in a murine model of Niemann-Pick type C disease. (1992) (40)
Myelin‐associated glycoprotein in multiple sclerosis lesions: A quantitative and qualitative analysis (1987) (40)
Replacement therapy for inherited enzyme deficiency sustained clearance of accumulated gluco cerebroside in gauchers disease following infusion of purified gluco cerebrosidase (1975) (40)
Niemann-Pick disease types C and D. (1989) (40)
The synthesis of radioactive cholesterol and fatty acids in vitro. (1951) (40)
Sphingolipid Antibodies in Sera of Animals and Patients with Central Nervous System Lesions.∗ (1962) (40)
Purification and properties of calf liver ribokinase. (1956) (39)
Separation of the glycoprotein and ganglioside components of thyrotropin receptor activity in plasma membranes. (1977) (39)
Liposomes as model membranes for ligand-receptor interactions: studies with choleragen and glycolipids. (1979) (39)
Intracellular trafficking of the free cholesterol derived from LDL cholesteryl ester is defective in vivo in Niemann-Pick C disease: insights on normal metabolism of HDL and LDL gained from the NP-C mutation. (1997) (39)
GM3 (hematoside) sphingolipodystrophy. (1974) (39)
A practical chromogenic procedure for the diagnosis of Krabbe's disease. (1977) (39)
Choleragen (cholera toxin): a bacterial lectin. (1979) (39)
Conditional deletion of neuronal cyclin-dependent kinase 5 in developing forebrain results in microglial activation and neurodegeneration. (2010) (38)
Lack of susceptibility of cells from patients with Fabry disease to productive infection with R5 human immunodeficiency virus (2005) (38)
Pathogenesis of one variant of sea-blue histiocytosis. (1975) (38)
Transformation of Swiss 3T3 cells by murine sarcoma virus is followed by decrease in a glycolipid glycosyltransferase. (1973) (38)
Delivery, Distribution, and Neuronal Uptake of Exogenous Mannose-Terminal Glucocerebrosidase in the Intact Rat Brain (1999) (38)
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone (2008) (38)
Quantitative dysmorphology assessment in Fabry disease (2006) (38)
Sphingolipid hydrolases in brain tissue of patients with generalized gangliodosis. (1970) (38)
The sphingolipidoses. (1966) (37)
Enzyme Replacement in Fabry Disease: Pharmacokinetics and Pharmacodynamics of Agalsidase Alfa in Children and Adolescents (2007) (36)
Treatment of Gaucher's disease. (1993) (36)
Molecular cloning and chromosomal mapping of the mouse gene encoding cyclin-dependent kinase 5 regulatory subunit p35. (1996) (36)
Analysis of the lipids of normal and Gaucher bone marrow. (1996) (36)
Relationship of gangliosides to the structure and function of thyrotropin receptors: their absence on plasma membranes of a thyroid tumor defective in thyrotropin receptor activity. (1976) (36)
Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol. (1991) (35)
Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi. (2003) (35)
The catabolism of Tay-Sachs ganglioside in rat brain lysosomes. (1972) (35)
Influence of oxygen on the photolysis of coenzyme B12 (1961) (34)
Metabolism of a myelin-associated glycoprotein in developing rat brain. (1974) (34)
A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase. (1978) (34)
CEREBRAL SPONGINESS AND GM3, GANGLIOSIDOSIS: ULTRASTRUCTURE AND PROBABLE PATHOGENESIS (1975) (34)
Elevated erythrocyte adenosine deaminase activity in patients with acquired immunodeficiency syndrome. (1986) (34)
Enzyme replacement therapy for Gaucher disease: critical investigations beyond demonstration of clinical efficacy. (1994) (33)
Murine monoclonal antibodies to the myelin-associated glycoprotein react with large granular lymphocytes of human blood. (1985) (32)
Enzymatic and functional correction along with long-term enzyme secretion from transduced bone marrow hematopoietic stem/progenitor and stromal cells derived from patients with Fabry disease. (1999) (32)
The purification and properties of a mammalian neuraminidase (sialidase). (1973) (32)
Hematologic improvement in a patient with gaucher disease on long‐term enzyme replacement therapy: Evidence for decreased splenic sequestration and improved red blood cell survival (1991) (31)
Vorinostat suppresses hypoxia signaling by modulating nuclear translocation of hypoxia inducible factor 1 alpha. (2017) (31)
Developmental change in a myelin-associated glycoprotein: a comparative study in rodents. (1974) (31)
Gaucher's disease: past, present and future. (1997) (31)
Immunization with purified myelin-associated glycoprotein does not evoke myelination-inhibiting or demyelinating antibodies (1981) (31)
The Basic neurosciences (1975) (30)
Tetrahydrobiopterin administration in biopterin‐deflcient progressive dystonia with diurnal variation (1989) (30)
Local and global cerebral blood flow and glucose utilization in the α‐galactosidase A knockout mouse model of Fabry disease (2001) (30)
The enzymatic synthesis of gangliosides. I. The incorporation of labeled N-acetylneuraminic acid into monosialoganglioside. (1964) (30)
Modifying exogenous glucocerebrosidase for effective replacement therapy in Gaucher disease (1994) (29)
The biosynthesis of a disialylganglioside by galactosyltransferase from rat brain tissue. (1972) (29)
Isolation and identification of a fucose-containing ganglioside from bovine thyroid gland. (1979) (29)
Effect of suramin on the activities of degradative enzymes of sphingolipids in rats. (1981) (29)
Establishment and characterization of Fabry disease endothelial cells with an extended lifespan. (2007) (29)
Molecular cloning of the mouse apolipoprotein D gene and its upregulated expression in Niemann-Pick disease type C mouse model. (1996) (29)
Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A (2016) (29)
Generation and characterization of mouse monoclonal antibodies to the myelin-associated glycoprotein (MAG) (1985) (29)
Neurologic complications of nonneuronopathic Gaucher's disease. (1991) (28)
Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease. (2004) (28)
Molecular cloning and chromosomal mapping of the mouse cyclin-dependent kinase 5 gene. (1995) (28)
Studies of the metabolism of myelin basic proteins in various regions of the central nervous system of immature and adult rats. (1971) (28)
Heritable catabolic and anabolic disorders of lipid metabolism. (1977) (28)
Inborn errors of lipid metabolism. (2006) (28)
Change in a myelin-associated glycoprotein in rat brain during development: Metabolic aspects (1975) (28)
Dexamethasone-induced change in the sphingomyelin content of human polymorphonuclear leukocytes in vitro. (1982) (28)
A multifunctional cytoprotective agent that reduces neurodegeneration after ischemia (2006) (28)
Mucolipidosis IV consists of one complementation group. (1999) (28)
An alternative pathway for the enzymatic synthesis of sphingomyelin. (1965) (27)
Prenatal diagnosis of lipid storage diseases. (1970) (27)
Gas chromatographic determination of gangliosides in mouse cell lines and in virally transformed derivative lines. (1971) (27)
Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase. (2001) (27)
Glycoconjugates in nervous tissue and small cell lung cancer share immunologically cross-reactive carbohydrate determinants (1986) (26)
Suramin-induced storage disease. Mucopolysaccharidosis. (1983) (26)
The effect of denervation on the composition of muscle gangliosides (1970) (26)
Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain. (2005) (26)
ENZYME REPLACEMENT IN THE SPHINGOLIPIDOSES (1984) (26)
Therapy for the sphingolipidoses. (1998) (26)
Reevaluation of the role of gangliosides in the binding and action of thyrotropin. (1981) (26)
Gaucher disease: isolation and comparison of normal and mutant glucocerebrosidase from human spleen tissue. (1978) (26)
Biotransducers of membrane-mediated information. (2006) (25)
Comparison of the effects of 9-tetrahydrocannabinol, 11-hydroxy- 9-tetrahydrocannabinol, and ethanol on the electrophysiological activity of the giant axon of the squid. (1973) (25)
THE CHEMISTRY OF LIPIDS. (1964) (25)
Expression of human glucocerebrosidase in long-term reconstituted mice following retroviral-mediated gene transfer into hematopoietic stem cells. (1990) (25)
Metabolism of Lysergic Acid Diethylamide (1956) (25)
The uptake of agalacto‐glucocerebrosidase by rat hepatocytes and kupffer cells (1978) (25)
Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus (1972) (24)
MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy. (1993) (24)
A derivative of myelin‐associated glycoprotein in cerebrospinal fluid of normal subjects and patients with neurological disease (1985) (23)
PROTEINS AND GLYCOPROTEINS IN MYELIN PURIFIED FROM THE DEVELOPING BOVINE AND HUMAN CENTRAL NERVOUS SYSTEMS (1977) (23)
The effect of a heat-stable factor in human spleen on glucocerebrosidase and acid -glucosidase activities. (1973) (23)
A comparison of membrane glycoconjugates from mouse cells transformed by murine and primate RNA sarcoma viruses. (1976) (23)
Intercellular delivery of a herpes simplex virus VP22 fusion protein from cells infected with lentiviral vectors. (2000) (23)
Response of sphingolipid hydrolases in spleen and liver to increased erythrocytorhexis. (1967) (22)
Enzymic activities associated with membranous cytoplasmic bodies and isolated brain lysosomes (1971) (22)
Vorinostat suppresses hypoxia signaling by modulating nuclear translocation of hypoxia inducible factor 1 alpha (2017) (22)
Studies of acetoacetate formation with labeled carbon; the conversion of zeta-(C7)-labeled octanoate to acetoacetate. (1949) (22)
Biosynthesis of Fatty Acids III. UTILIZATION OF SUBSTITUTED ACYL COENZYME A DERIVATIVES AS INTERMEDIATES (1963) (21)
HIV‐2 derived lentiviral vectors: Gene transfer in Parkinson's and Fabry disease models in vitro (2003) (21)
Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation (2015) (21)
Covalent crosslinking of human chorionic gonadotropin to its receptor in rat testes. (1981) (21)
Structural organization and expression of the mouse gene encoding α-galactosidase A (1995) (21)
Membrane components and enzymes in virally transformed cells. (1973) (21)
STUDIES ON THE BIOSYNTHESIS OF GANGLIOSIDES (1967) (21)
New Prospects for the Treatment of Lysosomal Storage Diseases (2012) (21)
Studies of the pathogenesis of Gaucher's disease: tissue distribution and biliary excretion of [14C]L-glucosylceramide in rats. (1987) (20)
Long‐term expression of the human glucocerebrosidase gene in vivo after transplantation of bone‐marrow‐derived cells transformed with a lentivirus vector (2005) (20)
Studies of the catabolism of myelin basic proteins of the rat in situ and in vitro. (1972) (20)
Design of an HIV-1 lentiviral-based gene-trap vector to detect developmentally regulated genes in mammalian cells (2002) (19)
Cholesteryl ester storage disease: a patient with massive splenomegaly and splenic abscess. (1988) (19)
Immunological and catalytic quantitation of splenic glucocerebrosidase from the three clinical forms of Gaucher disease. (1983) (19)
Intra-axonal injection of biologically active materials. (1958) (19)
An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain (2013) (18)
A lysosomal storage disorder in mice characterized by the accumulation of several sphingolipids. (1980) (18)
BIOSYNTHESIS OF SPHINGOSINE IN VITRO (1957) (18)
Type C Niemann-Pick disease: documentation of abnormal LDL processing in lymphocytes. (1990) (18)
Normalization and improvement of CNS deficits in mice with Hurler syndrome after long-term peripheral delivery of BBB-targeted iduronidase. (2014) (18)
Gaucher's disease: lack of antibody response in 12 patients following repeated intravenous infusions of mannose terminal glucocerebrosidase. (1991) (17)
The lipid storage diseases: new concepts and control. (1975) (17)
Hormonal influence upon the in vitro synthesis of radioactive fatty acids. (1951) (17)
Organomegaly and histopathology in an animal model of mucopolysaccharidosis induced by suramin (1982) (16)
The diagnosis of type A and type B Niemann Pick disease and detection of carriers using leukocytes and a chromogenic analogue of sphingomyelin. (1980) (16)
The role of gangliosides in the interaction of human chorionic gonadotropin and cholera toxin with murine Leydig tumor cells. (1984) (16)
Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach (2007) (16)
Prolongation of Response of Node of Ranvier by Metal Ions (1959) (16)
Status of enzyme replacement therapy for Gaucher disease. (1980) (16)
GM3 gangliosidosis: a novel human sphingolipodystrophy. (1976) (16)
Platelets are efficient and protective depots for storage, distribution, and delivery of lysosomal enzyme in mice with Hurler Syndrome (2014) (16)
Biliary excretion of glycolipid in induced or inherited glucosylceramide lipidosis. (1981) (16)
Pyridoxine‐responsive hyper‐β‐alaninemia associated with Cohen's syndrome (1994) (16)
[115] Ceramide trihexosidase from human placenta (1978) (16)
A new group of glucocerebrosidase isozymes found in human white blood cells. (1980) (15)
Targeting of synthetically glycosylated human placental glucocerebrosidase. (1985) (15)
Inherited metabolic storage disorders. (1982) (15)
Studies on the turnover of exogenous mannose‐terminal glucocerebrosidase in rat liver lysosomes (1995) (15)
Lectin-binding proteins in central-nervous-system myelin. Detection of glycoproteins of purified myelin on polyacrylamide gels by [3h]concanavalin A binding. (1979) (15)
Investigations in enzyme replacement therapy in lipid storage diseases. (1975) (15)
28 RADIOIMMUNOASSAY FOR THE MYELIN-ASSOCIATED GLYCOPROTEIN IN MULTIPLE SCLEROSIS BRAINS (1981) (15)
Alteration of glycolipids in ras-transfected NIH 3T3 cells. (1987) (15)
Fucose plays a role in the clearance and uptake of glucocerebrosidase by rat liver cells. (1980) (15)
Hereditary diseases--causes, cures, and problems. (1973) (14)
Gaucher disease: Resetting the clinical and scientific agenda (2009) (14)
Skin-impedance in Fabry Disease: A prospective, controlled, non-randomized clinical study (2008) (14)
Butyrylcholinesterase: an enzyme antidote for cocaine intoxication (1998) (14)
Mechanism of action of glycopeptide hormones and cholera toxin: what is the role of ADP-ribosylation? (1983) (14)
Interaction of human chorionic gonadotropin with membrane components of rat testes. (1978) (14)
Benefits from Unearthing “a Biochemical Rosetta Stone” (2010) (13)
Uptake of Mannose-Terminal Glucocerebrosidase in Cultured Human Cholinergic and Dopaminergic Neuron Cell Lines (2002) (13)
Radiographic findings in type 3 b Gaucher disease (1996) (13)
The preparation of trihexosyl ‐ and tetrahexosyl gangliosides specifically labeled in the n‐acetylgalactosaminyl moiety (1972) (13)
The suramin treated rat as a model of mucopolysaccharidosis: reversibility of biochemical and morphological changes in the liver (1986) (13)
The suramin-treated rat as a model of mucopolysaccharidosis (1986) (13)
Systematic approach to the diagnosis of lysosomal storage disorders. (2001) (13)
Prospects for enzyme replacement therapy in Gaucher disease. (1982) (13)
Effect of thyroid phospholipids on the interaction of thyrotropin with thyroid membranes. (1978) (13)
[116] β-Hexosaminidase A from human placenta (1972) (13)
The synthesis of radioactive cholesterol and fatty acids in vitro. II. A further study of precursors. (1951) (13)
Interactions of concanavalin A and other lectins with CNS myelin. (1974) (13)
Genetics and the sphingolipidoses. (1969) (13)
Stereospecific reduction of crotonyl coenzyme A (1962) (13)
Immunochemical properties of glycolipids (1966) (12)
Ophthalmologic aspects of lipid storage diseases. (1978) (12)
Enzyme replacement therapy for the sphingolipidoses. (1976) (12)
INTERACTION OF HUMAN PLACENTAL GLUCOCEREBROSIDASE WITH HEPATIC LECTINS (1984) (12)
Thyroid hormone-like properties of tetrabromotyronine and tetrachlorothyronine. (1949) (12)
Factors that influence the uptake of β-hemosaminidase a by rat peritoneal macrophages (1980) (12)
Evolution of enzyme replacement therapy for lipid storage diseases. (1974) (11)
IMMUNOCHEMICAL STUDIES WITH GANGLIOSIDES. II. INVESTIGATIONS OF THE STRUCTURE OF GANGLIOSIDES BY THE HAPTEN-INHIBITION TECHNIQUE. (1964) (11)
Development of a model system for neuronal dysfunction in Fabry disease. (2016) (11)
Musculocutaneous mononeuropathy complicating Capnocytophaga canimorsus infection (1993) (11)
An enzymological approach to the lipidoses. (1974) (11)
Access of enzymes to brain following osmotic alteration of the blood-brain barrier. (1980) (11)
The biosynthesis of radioactive long-chain fatty acids by homogenized pigeon liver tissue. (1951) (10)
Gaucher's disease: lack of antibody response to intravenous glucocerebrosidase. (1978) (10)
Participation of closely juxtaposed sulfhydryl groups in fatty acid biosynthesis (1960) (10)
L-glucosylceramide: synthesis, properties, and resistance to catabolism by glucocerebrosidase in vitro. (1979) (10)
Biochemical genetics in neurology. (1976) (10)
A beta-glucosidase in feline kidney that hydrolyzes amygdalin (laetrile). (1980) (9)
Preparation and characterization of antisera to the myelin-associated glycoprotein (1981) (9)
Renal transplantation in Type II Gaucher disease. (1973) (9)
[56] Glucocerebrosidase from human placenta (1978) (9)
Metabolic disorders of sphingolipid metabolism in man. (1970) (8)
Incorporation of Exogenous Enzymes into Lysosomes: A Theoretical and Practical Means for Correcting Lysosomal Blockage (1978) (8)
Factors that influence the uptake and turnover of glucocerebrosidase and alpha-galactosidase in mammalian liver. (1978) (8)
Effect of dimethylsulfoxide on the proliferation and glycosaminoglycan synthesis of rat prostate adenocarcinoma cells (PAIII) in vitro: Isolation and characterization of DMSO‐resistant cells (1991) (8)
Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model. (2006) (8)
Development of enzyme replacement therapy for Fabry disease (2006) (8)
Specific binding of 125I-labeled beta-hexosaminidase A to rat brain synaptosomes. (1979) (8)
A Lysosomal Storage Disorder in the BALB/c Mouse: Bone Marrow Transplantation (1984) (8)
Juvenile dystonic lipidosis. (1969) (8)
[35-S]sulfate incorporation into myelin glycoproteinsmi=entral nervous system. (1975) (7)
The role of cytidine nucleotides in the formation of inositol-containing lipid. (1957) (7)
Studies of lysosomal function: I. Metabolism of some complex lipids by isolated hepatocytes and Kupffer cells. (1978) (7)
Normal hearing in α-galactosidase A-deficient mice, the mouse model for Fabry disease (2007) (7)
Structural organization and expression of the mouse gene encoding alpha-galactosidase A. (1995) (6)
An Investigation of the Metabolism of Tay-Sachs Ganglioside Specifically Labeled in Critical Portions of the Molecule (1972) (6)
Fabry's Disease (2003) (6)
Position statement: National Gaucher Foundation Medical Advisory Board, January 7, 2014 (2014) (6)
Possible future therapies for Fabry disease (2006) (6)
Hereditary fat-metabolism diseases. (1973) (6)
Regional studies of myelin-associated glycoprotein in the rat central nervous system (1978) (6)
Impaired cholesterol esterification in primary brain cultures of the lysosomal cholesterol storage disorder (LCSD) mouse mutant. (1987) (6)
Enzymatic thioltransacetylation. (1954) (6)
Five novel mutations in fourteen patients with Fabry disease (2000) (6)
Enzyme replacement and gene therapy for Gaucher's disease (1996) (6)
Enzymatic defects in the sphingolipidoses. (1968) (6)
The chemistry and control of hereditary lipid diseases. (1974) (5)
. Hyperlipidemia as a Complication of Niemann-Pick Type B Disease (1990) (5)
Studies on the structure of gangliosides. I. On the linkage of N-acetyl neuraminic acid in monosialoganglioside. (1963) (5)
Therapeutic strategies for lipid storage diseases (1981) (5)
Modification of Membrane Glycolipids By Oncogenic Agents (1975) (5)
Alteration of the ganglioside composition of skeletal muscle in murine muscular dystrophy. (1971) (5)
A prospective 10 year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease (2015) (5)
Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells (2010) (5)
A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts. (2015) (5)
Potential gene therapy for alcoholism. (1994) (5)
A rapid method for the qualitative and quantitative estimation of the physiological activity of the adrenal cortex. (1953) (5)
Biochemical and metabolic basis of familial sphingolipidoses. (1972) (5)
Studies on the biosynthesis of galactolipids (1958) (5)
Composition of membranes of cells transformed by tumorigenic DNA and RNA viruses. (1975) (4)
99mTc-Sestamibi Scintigraphy to Monitor the Long-Term Efficacy of Enzyme Replacement Therapy on Bone Marrow Infiltration in Patients with Gaucher Disease (2013) (4)
The distribution of glucocerebroside in the liver of patients with Gaucher's disease. (1979) (4)
Elaboration of Steroid Hormones by Surviving Adrenal Tissue Slices Obtained from Thermally Stressed Dogs.∗ (1953) (4)
Developmental and pathophysiological aspects of the myelin-associated glycoprotein (1988) (4)
Disorders of ganglioside metabolism. (1972) (4)
Tay-Sachs disease: the search for the enzymatic defect. (2001) (4)
PURIFICATION AND PROPERTIES OF SPHINGOSINE (1956) (4)
Sphingolipid Antibodies. II. Specificity of Antibody in Patients with Demyelinating Diseases.∗ (1963) (4)
[110] Glucocerebrosidase from bovine spleen (cerebroside-β-glucosidase) (1972) (4)
Molecular weight characterization of beta-D-glucocerebrosidase in mononuclear white blood cells in Gaucher's disease. (1984) (4)
Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen's syndrome. (1994) (4)
Five novel mutations in fourteen patients with Fabry Disease. (2000) (4)
The genetic mismanagement of complex lipid metabolism. (1971) (4)
Enzyme Replacement Therapy (2010) (3)
Genetic errors and enzyme replacement strategies. (1983) (3)
Isozymes of beta-glucosidase: determination of Gaucher's disease phenotypes. (1983) (3)
Augmentation of a brain lysosomal enzyme activity following enzyme infusion with concomitant alteration of the blood-brain barrier. (1977) (3)
ALTERATIONS OF SURFACE GLYCOCONJUGATES AND CELL MORPHOLOGY INDUCED BY BUTYRIC ACID (1978) (3)
Factors that influence the uptake of beta-hexosaminidase A by rat peritoneal macrophages. (1980) (3)
Therapy for neurological involvement in AIDS (1988) (3)
The biosynthesis of fatty acids in cell-free systems. (1952) (3)
Nephrotic syndrome and renal failure associated with a novel glycolipid storage disorder. (1988) (3)
ISOLATION OF COENZYME B 12 FROM LIVER OF GERM-FREE MICE. (1963) (3)
Lithium + Colchicine: A Potential Strategy to Reduce Pro-inflammatory Effects of Lithium Treatment (2017) (3)
Ontogeny of abnormal brain development in Cdk5(-/-) mice (1997) (3)
Alterations of complex lipid metabolism in tumorigenic virus transformed cell lines. (1973) (3)
The enzymology of myelination (1973) (3)
Disorders of Ganglioside Catabolism (1976) (3)
Enzyme defects in the sphingolipidoses and their application to diagnosis. (1972) (3)
157 PATHOLOGY OF REVERSIBLE BLOOD BRAIN BARRIER OPENING (1980) (3)
Enzymic defects in lipid-storage diseases. (1970) (2)
MYELIN-ASSOCIATED GLYCOPROTEIN IN MULTIPLE SCLEROSIS LESIONS (1986) (2)
NEUROLOGY: EVIDENCE FOR THE PARTICIPATION OF A GLICOPROTEIN IN THE EARLY PROCESSES OF MYELINATION (1974) (2)
Glucocerebrosidase from human placenta. (1978) (2)
THE TOTAL ENZYMIC SYNTHESIS OF CEREBROSIDES (1962) (2)
Animal and cellular models of sphingolipid storage disorders of humans. (1986) (2)
[23] Sphingomyelinase from rat liver (sphingomyelin cholinephosphohydrolase) (1969) (2)
ELUCIDATION OF CLINICAL LYSOSOME DEFICIENCIES (1978) (2)
The Altered Metabolism of Sialic-Acid-Containing Compounds in Tumorigenic-Virus-Transformed Cells (1976) (2)
The preparation of Tay-Sachs ganglioside specifically labeled in either the N-acetylneuraminosyl or N-acetylgalactosaminyl portion of the molecule. (1975) (2)
Changes in cell membrane biochemistry upon transformation in culture by tumorigenic dna viruses. (1971) (2)
Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid (1994) (2)
Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus (1972) (2)
[109] Neuraminidase (sialidase) from rat heart (1972) (2)
LETTER TO THE EDITOR: LACK OF EFFECT OF PARAHYDROXYPROPIOPHENONE IN HYPEROPHTHALMOPATHIC GRAVES' DISEASE AND DIABETES MELLITUS (1952) (2)
STUDIES OF INHIBITORS OF FATTY ACID BIOSYNTHESIS. III. MECHANISM OF ACTION OF TETROLYL-COENZYME A. (1963) (2)
Alterations of Galactosaminyl- and Galactosyltransferases in Cultured Mammalian Cells and in Vivo (1976) (1)
Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease. (2007) (1)
GM3 GANGLIOSIDOSIS: A NEW LIPID STORAGE DISEASE (1974) (1)
Ganglioside patterns of cultured human glioma cells. (1970) (1)
The enzymatic defect in Gaucher disease. (1982) (1)
20 Enzyme Replacement Therapy (1983) (1)
863. Expression and Secretion of Human Glucocerebrosidase Mediated by Recombinant Lentivirus Vectors In Vitro and In Vivo (2004) (1)
Diagnostic and therapeutic applications of sphingolipid hydrolyzing enzymes. (1985) (1)
Disorders of lipid metabolism. (1972) (1)
A Contemporary View of Intracellular Cholesterol Movement (1994) (1)
Specific binding of beta-hexosaminidase A to rat brain synaptic plasma membranes. (1980) (1)
11 Sphingolipid Hydrolysis (1983) (1)
The effect of pancreatectomy on fatty acid synthesis in liver of fasted rats. (1965) (1)
Abnormal intracellular calcium handling: a key pathogenic and therapeutic target of the cardiac manifestations in Fabry disease (2014) (1)
The neurochemistry of nucleotides and amino acids : a symposium of the section on neurochemistry, AAN (1960) (1)
GENETICS OF ABNORMAL LIPID METABOLISM (1972) (1)
Sphingolipid metabolism in neural tissues. (1969) (1)
Inhibition of Lipid Synthesis in Rat Skin by Tetrolyl-Pantetheine (1971) (1)
GLYCOLIPIDS IN SV40 AND POLYOMA VIRUS TRANSFORMED MOUSE CELL LINES (1970) (1)
Control and therapy of lipid storage diseases: present status and future strategies. (1982) (1)
Inherited metabolic diseases and pathogenesis of mental retardation. (1978) (1)
Clinical, pathologic, and biochemical features of a cholesterol lipidosis accompanied by hyperlipidemia and xanthomas (1992) (1)
Animal and cellular models of Gaucher's disease. I. Refractoriness of thio analogs of glucocerebroside to enzymatic hydrolysis. (1986) (1)
Prospects for enzyme replacement therapy in heritable metabolic disorders (1982) (1)
The liver in lipid storage disease: biochemical basis of pathogenesis and clinical features. (1982) (1)
Enzyme replacement therapy with macrophage-targeted human placental glucocerebrosidase in Gaucher disease (1991) (1)
NEUROPATHOLOGY OF LSCD BALB/C HYPOMYELINATED MOUSE: AN ELECTRON MICROSCOPIC AND IMMUNOHISTOCHEMICAL STUDY 45 (1987) (1)
F. Enzyme Defects in the Lipidoses and their prenatal Detection (1974) (1)
Neurogene therapy for the 21st century. (2000) (0)
Biochemical approaches to the nosology of nervous system defects, II. (1971) (0)
Targeting Glucocerebrosidase to Macrophages for Effective Treatment of Patients with Gaucher Disease: Setting the Paradigm of a “Fit for Purpose” Approach to Enzyme Replacement Therapy (2015) (0)
Emerging Treatment of Neurometabolic Disorders (2005) (0)
The Structure of Lipids By Spectroscopic and X-Ray Techniques. D. Chapman, John Wiley and Sons, Inc., New York, 1965, 323 pp., $10.50 (1966) (0)
Life sciences, vol. 150: Lipid and storage disorders: Biological and medical aspects. (1989) (0)
DNA Virus-Transformed Tumorigenic Mouse Cell Lines (0)
Tay-sachs disease. (1969) (0)
Immunological Approaches to the Diagnosis of Lysosomal Storage Diseases and Heterozygote Detection (1984) (0)
Genetic counseling. (1971) (0)
Haematological aspects of lipid storage diseases. (1977) (0)
Isolation of coenzyme B12 from liver of germ-free mice (1963) (0)
Commentary (2001) (0)
Complex Lipid Catabolism (2007) (0)
Chapter 81 – Fabry's Disease (2005) (0)
Development of novel therapies in murine models for Gaucher disease (2009) (0)
Further studies on the elucidation of the enzymatic defect in Tay-Sachs disease. (1970) (0)
(608): Cyclin-dependent kinase 5 modulates nociceptive signaling by functional regulation of TRPV1 (2007) (0)
The adnormal biochemistry of inherited disorders of lipid metabolism. (1973) (0)
The Biosynthesis of Radioactive Cholesterol by Surviving Liver Slices (2008) (0)
Differential uptake of native and desialylated glucocere-brosidase by rat hepatocytes and Kupffer cells (1978) (0)
99mTc-Sestamibi bone marrow scintigraphy demonstrates the efficacy of long-term enzyme replacement therapy in patients with Gaucher’s disease (2004) (0)
17 Current and future therapies for hereditary metabolic disorders (2007) (0)
Lack of effect of parahydroxypropiophenone in hyperophthalmopathic Graves' disease and diabetes mellitus. (1952) (0)
The Concept of Treatment in Lysosomal Storage Diseases (2007) (0)
ALTERATIONS OF COMPLEX LIPID METABOLISM IN TUMORIGENIC VIRUS-TRANSFORMED CELLS (1972) (0)
Membrane biochemistry and antigenicity of spontaneously and virally transformed mouse cell lines (1970) (0)
521. Platelets Transfusion New Role as Brain Therapeutics for Acute Neuronopathic Gaucher Disease (2016) (0)
Comparison of single and multiple doses of agalsidase alfa on tissue accumulation of globotriaosylcermide in Fabry knockout mice (2002) (0)
Therapeutic approaches to selected disorders of inborn errors of metabolism with neurological involvement. (1976) (0)
Opportunity to Advance Knowledge of Gaucher's Disease (1964) (0)
Complex lipids - from laboratory to layman (1976) (0)
Infantile (type II) Gaucber's disease" diagnosis and fetal pathology (1972) (0)
Present Status of Research in the Glycolipid Storage Diseases (1979) (0)
87. Outcomes of testing Lentivector-mediated Gene Therapy for Farber Disease in Non-Human Primates (2009) (0)
Therapy for Neuronopathic Lysosomal Storage Diseases (2013) (0)
Systems-biology approach to sphingolipid-storage disorders (2008) (0)
Glucocerebroside-beta-glucosidase isozymes. (1982) (0)
Treatment of Lysosomal Storage Diseases by Enzyme Administration (1984) (0)
Reverse Königs-Knorr reaction. Synthesis of beta-D-gluco-thio-cerebroside. (1985) (0)
Molecular basis of lysosomal storage disorders : proceedings of the Conference on the Molecular Basis of Lysosomal Storage Disorders, held at the National Institutes of Health, Bethesda, Maryland, September 12-14, 1983 (1984) (0)
Further developments in studies in sphingolipidoses: "missing enzymes". (1970) (0)
758 Convection-enhanced Delivery of Glucocerebrosidase to the Primate Brain as a Potential Treatment for Neuronopathic Gaucher's Disease (2004) (0)
Differential inhibition of beta-hexosaminidase A and beta-hexosaminidase B by suramin. (1981) (0)
EFFECTS OF COPPER DEFICIT ON MYELINATION (1975) (0)
[100] Cerebroside glycosidases (1966) (0)
Intra-Axonal Injection of Biologically Active Materials 1 (2004) (0)
IS027 An Experimental Study of Gene Therapy for Cardiac Fabry Disease Using α-Galactosidase Deficient Mice (2000) (0)
Response : Niemann-Pick Disease Experimental Model (1978) (0)
Enzymatic thioltransacetylation. (1956) (0)
WITHDRAWN: 77 Current and future therapies for hereditary metabolic disorders (2007) (0)
Ceramide trihexosidase from human placenta. (1978) (0)
In vitro modeling Fabry heart disease using induced pluripotent stem cells (2013) (0)
The thyroid inhibiting properties of tetrabromthyronine. (1948) (0)
Long-Term and Sustained Correction of the α-Galactosidase A Deficiency in Fabry Mice and Patient Cells Receiving Lentivirally Transduced Hematopoietic Stem/Progenitor Cells. (2005) (0)
Enzymological approaches to the lipidoses. (1977) (0)

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