William. S. Sly

Q: What Schools Are Affiliated With William. S. Sly

William. S. Sly is affiliated with the following schools: Massachusetts General Hospital, University of Oulu, University of Pennsylvania, University of Oslo, Jikei University School of Medicine, Tampere University, University of Cape Town, University of Oxford, Gifu University

William. S. Sly's AcademicInfluence.com Rankings

William. S. Sly

Biology

#7283

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#10178

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Biochemistry

#994

World Rank

#1107

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Biology

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William. S. Sly'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

Human carbonic anhydrases and carbonic anhydrase deficiencies. (1995) (844)
Expression of hypoxia-inducible cell-surface transmembrane carbonic anhydrases in human cancer. (2001) (642)
Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. (1983) (599)
HFE gene knockout produces mouse model of hereditary hemochromatosis. (1998) (535)
The Hemochromatosis Founder Mutation in HLA-H Disrupts β2-Microglobulin Interaction and Cell Surface Expression* (1997) (498)
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. (1973) (451)
Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. (1997) (379)
Insulin-like growth factor receptor expression and function in human breast cancer. (1990) (359)
Human carbonic anhydrase XII: cDNA cloning, expression, and chromosomal localization of a carbonic anhydrase gene that is overexpressed in some renal cell cancers. (1998) (350)
Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. (1997) (333)
The Taste of Carbonation (2009) (320)
The Phosphomannosyl Recognition System for Intracellular and Intercellular Transport of Lysosomal Enzymes (1982) (311)
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. (1985) (300)
Carbonic anhydrase inhibitor suppresses invasion of renal cancer cells in vitro. (2000) (290)
Decreased liver hepcidin expression in the Hfe knockout mouse. (2002) (283)
Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis. (2000) (280)
Hepcidin: A putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease (2001) (274)
Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1. (1999) (265)
Crystal structure of the dimeric extracellular domain of human carbonic anhydrase XII, a bitopic membrane protein overexpressed in certain cancer tumor cells (2001) (261)
Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis (2002) (251)
Expression of the hypoxia-inducible and tumor-associated carbonic anhydrases in ductal carcinoma in situ of the breast. (2001) (243)
Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. (1997) (241)
Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. (1999) (230)
Carbonic anhydrase IV from human lung. Purification, characterization, and comparison with membrane carbonic anhydrase from human kidney. (1990) (229)
Characterization of CA XIII, a Novel Member of the Carbonic Anhydrase Isozyme Family* (2004) (224)
Structure of human β-glucuronidase reveals candidate lysosomal targeting and active-site motifs (1996) (219)
Carbonic Anhydrase IX Promotes Tumor Growth and Necrosis In Vivo and Inhibition Enhances Anti-VEGF Therapy (2012) (214)
Structure, function and applications of carbonic anhydrase isozymes. (2013) (200)
Enzyme replacement therapy for murine mucopolysaccharidosis type VII. (1994) (197)
Human β-glucuronidase: In vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells (1978) (193)
Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis (2001) (190)
Luminol-Based Chemiluminescent Signals: Clinical and Non-clinical Application and Future Uses (2014) (190)
Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation. (1991) (179)
Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. (2005) (175)
Immunohistochemistry of Carbonic Anhydrase Isozyme IX (MN/CA IX) in Human Gut Reveals Polarized Expression in the Epithelial Cells with the Highest Proliferative Capacity (1998) (174)
Mechanisms of iron accumulation in hereditary hemochromatosis. (2002) (173)
Localization of membrane-associated carbonic anhydrase type IV in kidney epithelial cells. (1990) (163)
Characterization of CA XV, a new GPI-anchored form of carbonic anhydrase. (2005) (162)
The role of intermediate vesicles in the adsorptive endocytosis and transport of ligand to lysosomes by human fibroblasts (1983) (162)
Treatment of murine mucopolysaccharidosis type VII by syngeneic bone marrow transplantation in neonates. (1993) (161)
Purification and characterization of human salivary carbonic anhydrase. (1987) (160)
Carbonic anhydrase IV on brain capillary endothelial cells: a marker associated with the blood-brain barrier. (1992) (155)
Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis (2002) (154)
Expression of a novel transmembrane carbonic anhydrase isozyme XII in normal human gut and colorectal tumors. (2000) (152)
Developmentally regulated mannose 6-phosphate receptor-mediated transport of a lysosomal enzyme across the blood-brain barrier. (2004) (151)
Estrogen receptor regulation of carbonic anhydrase XII through a distal enhancer in breast cancer. (2008) (150)
DNA replication and messenger RNA production after induction of wild-type λ bacteriophage and λ mutants (1966) (147)
A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice. (1990) (146)
Expression of transmembrane carbonic anhydrase isoenzymes IX and XII in normal human pancreas and pancreatic tumours (2000) (144)
Flavonoid glucuronides are substrates for human liver β‐glucuronidase (2001) (142)
Carbonic anhydrase XII is a marker of good prognosis in invasive breast carcinoma (2003) (142)
Cloning, sequencing, and expression of cDNA for human beta-glucuronidase. (1987) (139)
Expression of the Membrane-associated Carbonic Anhydrase Isozyme XII in the Human Kidney and Renal Tumors (2000) (135)
Localization of carbonic anhydrase IV in a specific capillary bed of the human eye. (1991) (133)
Crystal structure of the secretory form of membrane-associated human carbonic anhydrase IV at 2.8-A resolution. (1996) (132)
Catalysis and inhibition of human carbonic anhydrase IV. (1997) (129)
Clinical course of sly syndrome (mucopolysaccharidosis type VII) (2016) (128)
Murine mucopolysaccharidosis type VII: long term therapeutic effects of enzyme replacement and enzyme replacement followed by bone marrow transplantation. (1997) (127)
Expression of membrane-associated carbonic anhydrase XIV on neurons and axons in mouse and human brain. (2001) (122)
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. (2004) (121)
Defective acidification of endosomes in Chinese hamster ovary cell mutants "cross-resistant" to toxins and viruses. (1983) (119)
Carbonic anhydrase IV and XIV knockout mice: roles of the respective carbonic anhydrases in buffering the extracellular space in brain. (2005) (119)
Chemically modified β-glucuronidase crosses blood–brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII (2008) (115)
Carbonic anhydrase IV expression in rat and human gastrointestinal tract regional, cellular, and subcellular localization. (1995) (115)
Adenovirus-mediated gene transfer and expression of human beta-glucuronidase gene in the liver, spleen, and central nervous system in mucopolysaccharidosis type VII mice. (1997) (114)
On the Coding of Genetic Information (1963) (112)
Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behavior and auditory function. (1998) (112)
Membrane-associated carbonic anhydrase from rat lung. Purification, characterization, tissue distribution, and comparison with carbonic anhydrase IVs of other mammals. (1992) (111)
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype‐phenotype correlation (2004) (109)
Enzyme replacement therapy in a murine model of Morquio A syndrome. (2007) (107)
Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. (1996) (107)
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome) (2009) (106)
Molecular basis of human carbonic anhydrase II deficiency. (1992) (106)
Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse (2002) (102)
Depletion of intercalated cells from collecting ducts of carbonic anhydrase II-deficient (CAR2 null) mice. (1995) (101)
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. (1980) (101)
Enzyme Replacement with Recombinant β-Glucuronidase in the Newborn Mucopolysaccharidosis Type VII Mouse (1993) (98)
Enzyme Replacement in Murine Mucopolysaccharidosis Type VII: Neuronal and Glial Response to β-Glucuronidase Requires Early Initiation of Enzyme Replacement Therapy (1999) (98)
Mitochondrial carbonic anhydrase CA VB: differences in tissue distribution and pattern of evolution from those of CA VA suggest distinct physiological roles. (2000) (97)
Expression of transmembrane carbonic anhydrases IX and XII in ovarian tumours (2006) (97)
Expression, Assay, and Structure of the Extracellular Domain of Murine Carbonic Anhydrase XIV (2004) (94)
Identification of an alternatively spliced isoform of carbonic anhydrase XII in diffusely infiltrating astrocytic gliomas. (2008) (91)
Identification of carbonic anhydrase XII as the membrane isozyme expressed in the normal human endometrial epithelium. (2000) (91)
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis (2003) (90)
Enzyme Replacement with Recombinant β-Glucuronidase in Murine Mucopolysaccharidosis Type VII: Impact of Therapy during the First Six Weeks of Life on Subsequent Lysosomal Storage, Growth, and Survival (1996) (90)
Effect of sulfonamides as carbonic anhydrase VA and VB inhibitors on mitochondrial metabolic energy conversion. (2013) (88)
Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice. (2004) (88)
Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis. (1973) (87)
Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and expression in COS cell membranes. (1992) (86)
Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17. (2004) (85)
Carbonic anhydrase II. A novel biomarker for gastrointestinal stromal tumors (2010) (84)
Pulmonary carbonic anhydrase IV: developmental regulation and cell-specific expression in the capillary endothelium. (1993) (83)
Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene. (1991) (82)
Carbonic anhydrase XIV is enriched in specific membrane domains of retinal pigment epithelium, Müller cells, and astrocytes (2005) (82)
Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis (2003) (82)
Inhibition of the rat clearance system for agalacto-orosomucoid by yeast mannans and by mannose. (1977) (82)
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. (2014) (82)
Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. (2010) (81)
The tumour-associated carbonic anhydrases CA II, CA IX and CA XII in a group of medulloblastomas and supratentorial primitive neuroectodermal tumours: an association of CA IX with poor prognosis (2010) (81)
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. (2003) (81)
Carbonic anhydrase XIV: luminal expression suggests key role in renal acidification. (2002) (80)
Expression of Carbonic Anhydrase V in Pancreatic Beta Cells Suggests Role for Mitochondrial Carbonic Anhydrase in Insulin Secretion* (1998) (80)
Therapies for the bone in mucopolysaccharidoses. (2015) (79)
In vitro correction of deficient human fibroblasts by beta-glucuronidase from different human sources. (1974) (79)
Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. (1986) (79)
Mannose 6-phosphate receptor-mediated transport of sulfamidase across the blood-brain barrier in the newborn mouse. (2008) (78)
Constitutive λ DNA replication by λc17, a regulatory mutant related to virulence (1968) (78)
Differential Expression of Cytoplasmic Carbonic Anhydrases, CA I and II, and Membrane-Associated Isozymes, CA IX and XII, in Normal Mucosa of Large Intestine and in Colorectal Tumors (2001) (77)
Carbonic anhydrase XII functions in health and disease. (2017) (75)
Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation. (1986) (75)
Large scale analysis of the mutational landscape in β-glucuronidase: A major player of mucopolysaccharidosis type VII. (2016) (74)
Purification and kinetic analysis of recombinant CA XII, a membrane carbonic anhydrase overexpressed in certain cancers. (2000) (74)
Molecular aspects of iron absorption and HFE expression. (2001) (74)
Biodistribution, Kinetics, and Efficacy of Highly Phosphorylated and Non-phosphorylated β-Glucuronidase in the Murine Model of Mucopolysaccharidosis VII* (2001) (73)
Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide. (2006) (73)
Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone (2007) (73)
Differentiation‐dependent expression of CA V and the role of carbonic anhydrase isozymes in pyruvate carboxylation in adipocytes (1996) (73)
Methanol production via bioelectrocatalytic reduction of carbon dioxide: Role of carbonic anhydrase in improving electrode performance (2011) (72)
New strategies for enzyme replacement therapy for lysosomal storage diseases. (2010) (71)
Active site residues of human beta-glucuronidase. Evidence for Glu(540) as the nucleophile and Glu(451) as the acid-base residue. (1999) (70)
A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries (1992) (70)
Multiple isoelectric and recognition forms of human β-glucuronidase activity (1975) (69)
Expression of the transmembrane carbonic anhydrases, CA IX and CA XII, in the human male excurrent ducts. (2001) (67)
[38] Isolation of fibroblasts from patients (1979) (67)
Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome. (2001) (65)
Syngeneic bone marrow transplantation reduces the hearing loss associated with murine mucopolysaccharidosis type VII. (1995) (64)
Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV (2009) (64)
Localization of Carbonic Anhydrase XII to the Basolateral Membrane of H+-secreting Cells of Mouse and Rat Kidney (2003) (64)
Cell surface expression of HFE protein in epithelial cells, macrophages, and monocytes. (2000) (64)
Carbonic anhydrase isozymes IX and XII in gastric tumors. (2003) (64)
Expression of carbonic anhydrase isoenzymes IV and II in rat epididymal duct. (1995) (64)
Carbonic anhydrase XIV deficiency produces a functional defect in the retinal light response (2007) (63)
Correction of murine mucopolysaccharidosis VII by a human beta-glucuronidase transgene. (1990) (62)
The expression of carbonic anhydrase II in hematological malignancies. (2002) (61)
Carbonic Anhydrases CA4 and CA14 Both Enhance AE3-Mediated Cl−–HCO3− Exchange in Hippocampal Neurons (2009) (60)
Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII (2013) (59)
Mitochondrial Carbonic Anhydrase in the Nervous System (2000) (59)
Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. (1975) (58)
Human mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16. (1993) (58)
Intestinal iron uptake determined by divalent metal transporter is enhanced in HFE-deficient mice with hemochromatosis. (2001) (57)
Rat skeletal muscle membrane associated carbonic anhydrase is 39-kDa, glycosylated, GPI-anchored CA IV. (1992) (57)
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. (1996) (56)
Current and emerging treatments and surgical interventions for Morquio A syndrome: a review. (2012) (55)
First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient. (2015) (55)
Immunohistochemical localization of carbonic anhydrase IV in capillaries of rat and human skeletal muscle. (1994) (55)
Secretory carbonic anhydrase isoenzyme (CA VI) in human serum. (1997) (54)
Photoreceptor degeneration and altered distribution of interphotoreceptor matrix proteoglycans in the mucopolysaccharidosis VII mouse. (1993) (54)
Genetics and biochemistry of variant human phenotypes (1989) (54)
Carbonic anhydrase IV: purification of a secretory form of the recombinant human enzyme and identification of the positions and importance of its disulfide bonds. (1996) (54)
Carbonic anhydrase IV: role of removal of C-terminal domain in glycosylphosphatidylinositol anchoring and realization of enzyme activity. (1995) (54)
Permanent lymphoid lines from genetically marked lymphocytes: success with lymphocytes recovered from frozen storage. (2008) (53)
Epinephrine enhances lysosomal enzyme delivery across the blood–brain barrier by up-regulation of the mannose 6-phosphate receptor (2007) (53)
Morquio A syndrome: diagnosis and current and future therapies. (2014) (53)
Location of a membrane-bound carbonic anhydrase isoenzyme (CA IV) in the human male reproductive tract. (1993) (52)
Pathophysiology of hereditary hemochromatosis. (2005) (52)
Receptor-mediated uptake of lysosomal enzymes. (1978) (51)
Localization of Carbonic Anhydrase IV in Rat and Human Heart Muscle (1998) (51)
Carbonic Anhydrase IX Is Highly Expressed in Hereditary Nonpolyposis Colorectal Cancer (2007) (51)
Expression of von Hippel-Lindau tumor suppressor and tumor-associated carbonic anhydrases IX and XII in normal and neoplastic colorectal mucosa. (2005) (51)
Expression of carbonic anhydrases IX and XII during mouse embryonic development (2006) (51)
Functional demonstration of surface carbonic anhydrase IV activity on rat astrocytes (2006) (50)
Human β-glucuronidase: structure, function, and application in enzyme replacement therapy. (2013) (50)
Role of the 6-phosphomannosyl-enzyme receptor in intracellular transport and adsorptive pinocytosis of lysosomal enzymes. (1981) (50)
Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding. (2001) (49)
Role of Carbonic Anhydrase IV in the Bicarbonate-Mediated Activation of Murine and Human Sperm (2010) (49)
Transport Activity of the High-affinity Monocarboxylate Transporter MCT2 Is Enhanced by Extracellular Carbonic Anhydrase IV but Not by Intracellular Carbonic Anhydrase II* (2011) (49)
Enzyme therapy in mannose receptor-null mucopolysaccharidosis VII mice defines roles for the mannose 6-phosphate and mannose receptors (2006) (49)
Bicarbonate homeostasis in excitable tissues: role of AE3 Cl-/HCO3- exchanger and carbonic anhydrase XIV interaction. (2009) (49)
High Resolution Crystal Structure of Human β-Glucuronidase Reveals Structural Basis of Lysosome Targeting (2013) (49)
The plasma membrane carbonic anhydrase in murine hepatocytes identified as isozyme XIV (2002) (48)
Neuropathology of murine mucopolysaccharidosis type VII (1996) (48)
Carbonic anhydrase XIV identified as the membrane CA in mouse retina: strong expression in Müller cells and the RPE. (2005) (48)
Brain-directed gene therapy for lysosomal storage disease: Going well beyond the blood– brain barrier (2002) (47)
Expression of Membrane-bound Carbonic Anhydrases IV, IX, and XIV in the Mouse Heart (2006) (47)
Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice. (2008) (46)
The Value of Inherited Deficiencies of Human Carbonic Anhydrase Isozymes in Understanding Their Cellular Roles a (1984) (46)
Flavonoid glucuronides are substrates for human liver beta-glucuronidase. (2001) (44)
Carbonic anhydrase II expression in rat type II pneumocytes. (1994) (44)
Identification of Glu-540 as the Catalytic Nucleophile of Human β-Glucuronidase Using Electrospray Mass Spectrometry* (1998) (44)
Regional expression and androgen regulation of carbonic anhydrase IV and II in the adult rat epididymis. (1999) (44)
Mechanism of λc17cI virulence (1969) (44)
Nonablative neonatal marrow transplantation attenuates functional and physical defects of beta-glucuronidase deficiency. (2001) (44)
Transgene produces massive overexpression of human β-glucuronidase in mice, lysosomal storage of enzyme, and strain-dependent tumors (2003) (43)
High level expression and export of beta-glucuronidase from murine mucopolysaccharidosis VII cells corrected by a double-copy retrovirus vector. (1995) (43)
Region- and Cell-specific Differences in the Distribution of Carbonic Anhydrases II, III, XII, and XIV in the Adult Rat Epididymis (2005) (43)
Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis. (1982) (43)
Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N‐acetylgalactosamine‐6‐sulfate sulfatase (GALNS) gene in Italian patients (2004) (42)
Host survival following infection with or induction of bacteriophage lambda mutants. (1968) (42)
Nuclear NonO/p54nrb Protein Is a Nonclassical Carbonic Anhydrase* (2000) (42)
Active site mutant transgene confers tolerance to human β-glucuronidase without affecting the phenotype of MPS VII mice (2001) (41)
Positive Renal Response to Intravenous Acetazolamide in Patients with Carbonic Anhydrase II Deficiency (1985) (41)
Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both enzymes in ammonia detoxification and glucose metabolism (2013) (41)
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene (1997) (41)
Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia. (1992) (41)
Carbonic anhydrase enzymes II, VII, IX and XII in colorectal carcinomas (2016) (41)
Pathogenesis of hereditary hemochromatosis. (2004) (40)
Human β-GIucuronidase. II. Fate of Infused Human Placental β-Glucuronidase in the Rat (1977) (39)
Activity and distribution of intracellular carbonic anhydrase II and their effects on the transport activity of anion exchanger AE1/SLC4A1 (2013) (39)
Mucopolysaccharidosis VII: postmortem biochemical and pathological findings in a young adult with beta-glucuronidase deficiency. (1994) (38)
CONTROL OF VIRAL MESSENGER RNA AFTER LAMBDA PHAGE INFECTION AND INDUCTION. (1965) (38)
Carbonic anhydrase gene expression in CA II‐deficient (Car2−/−) and CA IX‐deficient (Car9−/−) mice (2006) (38)
Infused Fc-tagged β-glucuronidase crosses the placenta and produces clearance of storage in utero in mucopolysaccharidosis VII mice (2008) (38)
Defining the pathway for Tat-mediated delivery of beta-glucuronidase in cultured cells and MPS VII mice. (2005) (38)
Naturally variant autosomal and sex-linked loci determine the severity of iron overload in β2-microglobulin-deficient mice (2001) (38)
Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients. (1994) (37)
Genetic heterogeneity in multiple lysosomal hydrolase deficiency. (1974) (37)
Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis. (1991) (36)
Isolation of fibroblasts from patients. (1979) (36)
T Tubules and Surface Membranes Provide Equally Effective Pathways of Carbonic Anhydrase-Facilitated Lactic Acid Transport in Skeletal Muscle (2010) (36)
Murine Mucopolysaccharidosis VII: Impact of Therapies on the Phenotype, Clinical Course, and Pathology in a Model of a Lysosomal Storage Disease (2001) (35)
Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model. (2012) (35)
Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients. (1990) (35)
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. (2007) (34)
Guanidinylated neomycin mediates heparan sulfate-dependent transport of active enzymes to lysosomes. (2010) (34)
Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus (1997) (34)
Carbonic anhydrase isozymes II, IX, and XII in uterine tumors (2012) (34)
Genomic organization and localization of gene for human carbonic anhydrase IV to chromosome 17q. (1993) (34)
Purification and properties of beta-glucuronidase from human placenta. (1978) (33)
Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis (1997) (33)
Mitochondrial carbonic anhydrase (isozyme V) in mouse and rat: cDNA cloning, expression, subcellular localization, processing, and tissue distribution. (1994) (33)
Pathology of the ear in murine mucopolysaccharidosis type VII. Morphologic correlates of hearing loss. (1994) (32)
Antibody to the phosphomannosyl receptor inhibits recycling of receptor in fibroblasts (1987) (32)
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660) (2017) (32)
The Mechanisms of Lambda Virulence II. Regulatory Mutations in Classical Virulence (1971) (32)
Control of lambda messenger RNA by the CI-immunity region (1965) (32)
Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity. (2018) (32)
Cloning, expression, and sequence homologies of cDNA for human carbonic anhydrase II. (1987) (32)
Progressive renal injury from transgenic expression of human carbonic anhydrase IV folding mutants is enhanced by deficiency of p58IPK (2010) (31)
Transmembrane carbonic anhydrase isozymes IX and XII in the female mouse reproductive organs (2004) (31)
Biosynthesis and turnover of the phosphomannosyl receptor in human fibroblasts. (1983) (31)
Analysis of a shortened form of human carbonic anhydrase VII expressed in vitro compared to the full-length enzyme. (2010) (30)
Failure of acetazolamide to decrease intraocular pressure in patients with carbonic anhydrase II deficiency. (1985) (30)
Gene therapy for murine mucopolysaccharidosis type VII (1997) (30)
Enzyme Replacement Therapy Improves Reproductive Performance in Mucopolysaccharidosis Type VII Mice But Does Not Prevent Postnatal Losses (1999) (30)
Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions? (2014) (29)
Identification of N-glycans displaying mannose-6-phosphate and their site of attachment on therapeutic enzymes for lysosomal storage disorder treatment. (2011) (29)
Expression Patterns and Subcellular Localization of Carbonic Anhydrases Are Developmentally Regulated during Tooth Formation (2014) (29)
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII (1993) (29)
Expression of hypoxia-inducible, membrane-bound carbonic anhydrase isozyme XII in mouse tissues. (2004) (29)
Role of carbonic anhydrases in skin wound healing (2017) (28)
The membrane carbonic anhydrases: from CO2 transport to tumor markers. (2000) (28)
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease. (2016) (28)
Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family. (1998) (27)
Normal Fertility Requires the Expression of Carbonic Anhydrases II and IV in Sperm* (2015) (27)
Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII (2012) (27)
Human beta-glucuronidase deficiency mucopolysaccharidosis: identification of cross-reactive antigen in cultured fibroblasts of deficient patients by enzyme immunoassay. (1977) (27)
Murine mucopolysaccharidosis type VII: The impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease (1998) (26)
Carbonic anhydrase type II deficiency. (2005) (26)
Carbonic anhydrase activity of intact carbonic anhydrase II-deficient human erythrocytes. (1988) (26)
Pathogenesis of hereditary hemochromatosis: genetics and beyond. (2002) (25)
Membrane-associated carbonic anhydrase from the crab gill: purification, characterization, and comparison with mammalian CAs. (1994) (25)
Carbonic Anhydrases in Metazoan Model Organisms: Molecules, Mechanisms, and Physiology. (2022) (25)
Membrane associated carbonic anhydrase IV (CA IV): a personal and historical perspective. (2014) (24)
A Novel Model of Murine Mucopolysaccharidosis Type VII due to an Intracisternal A Particle Element Transposition into the β-Glucuronidase Gene: Clinical and Pathologic Findings (2001) (24)
Gly-63-->Gln substitution adjacent to His-64 in rodent carbonic anhydrase IVs largely explains their reduced activity. (1996) (24)
Carbonic anhydrases IV and IX: subcellular localization and functional role in mouse skeletal muscle. (2008) (23)
HFE association with transferrin receptor 2 increases cellular uptake of transferrin-bound iron. (2008) (23)
Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis (2002) (23)
Genomic organization of the human gene (CA5) and pseudogene for mitochondrial carbonic anhydrase V and their localization to chromosomes 16q and 16p. (1995) (23)
General implications for CpG hot spot mutations: Methylation patterns of the human iduronate‐2‐sulfatase gene locus (2004) (23)
A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene. (1995) (23)
GPI-anchored carbonic anhydrase IV displays both intra- and extracellular activity in cRNA-injected oocytes and in mouse neurons (2013) (23)
Carbonic Anhydrase II Deficiency Syndrome (1991) (22)
SECTION 1 – The Uptake and Transport of Lysosomal Enzymes (1982) (22)
A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent (1994) (21)
Sanfilippo A syndrome in the fetus (1978) (21)
Partial rescue of human carbonic anhydrase II frameshift mutation by ribosomal frameshift. (1995) (21)
Cell-specific Expression of Mitochondrial Carbonic Anhydrase in the Human and Rat Gastrointestinal Tract (1999) (21)
NMDA Receptor-Dependent Afterdepolarizations Are Curtailed by Carbonic Anhydrase 14: Regulation of a Short-Term Postsynaptic Potentiation (2012) (20)
β-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients (1996) (20)
Postnatal development of carbonic anhydrase IV expression in rabbit kidney. (1999) (20)
Association of lambda bacteriophage DNA with a rapidly sedimenting Escherichia coli component. (1971) (20)
Saccharide traffic signals in receptor-mediated endocytosis and transport of acid hydrolases. (1980) (20)
An oculocerebrofacial syndrome. (1971) (20)
The missing link in lysosomal enzyme targeting. (2000) (20)
Effect of carbonic anhydrase inhibition and acetoacetate on anaplerotic pyruvate carboxylase activity in cultured rat astrocytes. (1997) (19)
Variable clinical presentation of carbonic anhydrase deficiency: Evidence for heterogeneity? (1990) (19)
Expression of cancer‐related carbonic anhydrases IX and XII in normal skin and skin neoplasms (2014) (19)
Enveloped virus acquires membrane defect when passaged in fibroblasts from I-cell disease patients. (1976) (19)
Modification of carbonic anhydrase II with acetaldehyde, the first metabolite of ethanol, leads to decreased enzyme activity (2008) (19)
Production of MPS VII mouse (Gustm(hE540A.mE536A)Sly) doubly tolerant to human and mouse β-glucuronidase (2003) (19)
Standardization in human cytogenetics (1975) (19)
Beta-glucuronidase deficiency mucopolysaccharidosis. (1974) (18)
Reduction of lysosomal storage in murine mucopolysaccharidosis type VII by transplantation of normal and genetically modified macrophages. (2000) (18)
Numerous transcriptional alterations in liver persist after short-term enzyme-replacement therapy in a murine model of mucopolysaccharidosis type VII. (2004) (18)
Human β-Glucuronidase. I. Recognition and Uptake by Animal Fibroblasts Suggests Animal Models for Enzyme Replacement Studies (1977) (18)
Mutational analysis in longest known survivor of mucopolysaccharidosis type VII (2003) (17)
Enzyme replacement therapy for lysosomal storage disorders: successful transition from concept to clinical practice. (2004) (16)
Methylation patterns of the human β-glucuronidase gene locus: Boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides (2002) (16)
Isolation and expression in Escherichia coli of a cDNA clone encoding human β-glucuronidase (1985) (16)
Human carbonic anhydrase IV: in vitro activation and purification of disulfide-bonded enzyme following expression in Escherichia coli. (1997) (16)
Expression profile of carbonic anhydrases in articular cartilage (2011) (16)
Carbonic anhydrase XIV in skeletal muscle: subcellular localization and function from wild-type and knockout mice. (2007) (16)
Reduction of lysosomal storage in murine mucopolysaccharidosis type VII by transplantation of normal and genetically modified macrophages (2000) (16)
Rat liver beta-glucuronidase. cDNA cloning, sequence comparisons and expression of a chimeric protein in COS cells. (1988) (16)
2H-Thieno[3,2-e]- and [2,3-e]-1,2-thiazine-6-sulfonamide 1,1-dioxides as ocular hypotensive agents: synthesis, carbonic anhydrase inhibition and evaluation in the rabbit. (2000) (16)
Acid-base effects on electrolyte transport in CA II-deficient mouse colon. (2000) (15)
A novel neurological disorder with progressive CNS calcification, deafness/ renal tubular acidosis, and microcytic anemia (1997) (15)
Intrinsic thermodynamics of high affinity inhibitor binding to recombinant human carbonic anhydrase IV (2018) (15)
Human Egasyn Binds β-Glucuronidase but neither the Esterase Active Site of Egasyn nor the C Terminus of β-Glucuronidase Is Involved in Their Interaction (1999) (15)
Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII. (2020) (15)
Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13. (1996) (14)
Cytoplasmic transfer of a determinant for chloramphenicol resistance between mammalian cell lines (1978) (14)
Receptor-mediated transport of acid hydrolases to lysosomes. (1985) (14)
The Hyperactive Child Syndrome: Normal Chromosome Findings (1971) (14)
Carbonic anhydrase IX in malignant pleural mesotheliomas: a potential target for anti-cancer therapy. (2013) (14)
Isolation and detailed characterization of human cell lines resistant to D-threo-chloramphenicol. (1976) (14)
Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations (2006) (13)
Enzyme replacement therapy on hypophosphatasia mouse model (2014) (13)
Cloning and characterization of the human beta-glucuronidase gene. (1990) (13)
Human platelets express hemochromatosis protein (HFE) and transferrin receptor 2 (2003) (12)
Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase. (2003) (12)
Pharmacologic manipulation of lysosomal enzyme transport across the blood–brain barrier (2016) (12)
The Mannose 6-Phosphate/Insulin-like Growth Factor-II Receptor Is a Substrate of Type V Transforming Growth Factor-β Receptor* (1999) (12)
Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form. (1990) (12)
Gene therapy for lysosomal storage disease: A no-brainer? (1997) (12)
Complementation, Cross Correction, and Drug Correction Studies of Combined β-Galactosidase Neuraminidase Deficiency in Human Fibroblasts (1984) (12)
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family (2003) (12)
Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with b2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells (degradationyGolgi processingyintracellular transportyironymajor histocompatibility complex class I protein) (1997) (11)
NEOMATAL BETA-GLUCURONIDASE-DEFICIENCY MUCOPOLYSACCHARIDOSIS (MPS VII): AUTOPSY FINDINGS (1982) (11)
Gene therapy on the Sly (1993) (11)
Analysis of the 5' flanking region of the human beta-glucuronidase gene. (1991) (11)
Postnatal development of carbonic anhydrase IV expression in rabbit kidney. (1999) (10)
Electrically wired mitochondrial electrodes for measuring mitochondrial function for drug screening. (2011) (10)
Microcephaly, mild mental retardation, short stature, and skeletal anomalies in siblings. (1972) (10)
The Final Frontier – Crossing the Blood-brain Barrier (2013) (9)
LSD exposure in utero. (1970) (9)
Transfusion of carbonic anhydrase‐replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (Carbonic Anhydrase‐II Deficiency) (1988) (9)
Drosophila GGA Model: An Ultimate Gateway to GGA Analysis (2011) (8)
Association between mucopolysaccharidosis Type VII and hydrops fetalis (2020) (8)
PERMANENT LYMPHOID LINES FROM GENETICALLY MARKED LYMPHOCYTES - SUCCESS WITH MAILED BLOOD SAMPLES AND FROZEN LYMPHOCYTES (1975) (7)
The Most Recently Discovered Carbonic Anhydrase, CA XV, Is Expressed in the Thick Ascending Limb of Henle and in the Collecting Ducts of Mouse Kidney (2010) (7)
Sex chromosome mosaicism (XO-XX-XXY-XY) in a phenotypic female. (1971) (7)
Ricin-binding properties of acid hydrolases from isolated lysosomes implies prior processing by terminal transferases of the trans-Golgi apparatus. (1985) (7)
β-Glucuronidase deficiency mucopolysaccharidosis (1975) (7)
Oxidative Phosphorylation Diseases: Chapter 46. (1995) (6)
Intracellular localization and degradation of diphtheria toxin (1988) (6)
Active Site Residues of Human β-Glucuronidase (1999) (6)
DNA replication and messenger RNA production after induction of wild-type lambda bacteriophage and lambda mutants. (1966) (6)
Ketotic hypoglycemia in the Penta X and other chromosome imbalance syndromes (1978) (5)
Carbonic Anhydrase IV (2015) (5)
β‐Glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis (1998) (5)
Determinants in the uptake of lysosomal enzymes by cultured fibroblasts. (1983) (5)
Alpha Adrenergic Induction of Transport of Lysosomal Enzyme across the Blood-Brain Barrier (2015) (5)
Effects of neuraminidase of the phenotype of sindbis virus grown in fibroblasts obtained from patients with I-cell disease. (1978) (5)
PHOSPHOHEXOSE ON LYSOSOMAL ENZYMES IS THE COMMON RECOGNITION MARKER FOR PINOCYTOSIS RECEPTOR ON FIBROBLASTS (1978) (4)
THE ROLE OF ACIDIFICATION IN TRANSPORT OF ACID HYDROLASES TO LYSOSOMES (1984) (4)
Human beta-glucuronidase. II. Fate of infused human placental beta-glucuronidase in the rat. (1977) (4)
Enzyme replacement therapy (ERT) for mucopolysaccharidosis VII (MPS VII; Sly syndrome) reduces lysosomal storage in a 36-week phase 1/2 clinical study (2015) (4)
INTERMEDIATE GOLGI α-D-MANNOSIDASE ACTIVITY IN FIBROBLASTS FROM PATIENTS WITH MANNOSIDOSIS AND MUCOLIPIDOSIS II AND III (1981) (4)
Human egasyn binds beta-glucuronidase but neither the esterase active site of egasyn nor the C terminus of beta-glucuronidase is involved in their interaction. (1999) (4)
Constitutive lambda DNA replication by lambda-C17, a regulatory mutant related to virulence. (1968) (3)
Knockout of the mouse HFE gene produces hemochromatosis (1998) (3)
Correction: High Resolution Crystal Structure of Human β-Glucuronidase Reveals Structural Basis of Lysosome Targeting (2015) (3)
The I-Cell model: the molecular basis for abnormal lysosomal enzyme transport in mucolipidosis II and mucolipidosis III (1985) (3)
Carbonic anhydrases in the mouse harderian gland (2010) (3)
Crystal Structure of the Extracellular Domain of Murine Carbonic Anhydrase XIV (2004) (3)
Isolation and expression in Escherichia coli of a cDNA clone encoding human beta-glucuronidase. (1985) (3)
Characterization of the intestinal defect in hereditary haemochromatosis (2000) (2)
Comparative kinetics of phosphomannosyl receptor‐mediated pinocytosis of fibroblast secretion acid hydrolases and glycopeptides prepared from them (1983) (2)
Molecular cloning of the mouse gene coding for carbonic anhydrase IV (1996) (2)
Processing and functional expression of carbonic anhyorase isoforms in xenopus mfmsoocytes (1996) (2)
PCR-based restriction fragment length polymorphism and haplotype of the most common mutation L176F in the beta-glucuronidase gene. (2007) (2)
Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease (2022) (2)
Enhanced translation of rat beta-glucuronidase cDNA is conferred by 155-bp segment of internal coding sequence. (1996) (1)
The iron gatekeeper: keys to the front and back doors (2003) (1)
Residue (107 His--Tyr): Complete Structure of the Normal Human CA 11 Gene (2006) (1)
97: Trafficking and expression analysis of transferrin receptor-2 protein: A protein causes hemochromatosis type-3 (2014) (1)
NEW APPROACHES TO HUMAN LYSOSOMAL STORAGE DISEASES USING ANIMAL CELLS AND ANIMAL VIRUSES (1977) (1)
Inhibition Enhances Anti-VEGF Therapy Vivo In Carbonic Anhydrase IX Promotes Tumor Growth and Necrosis (2012) (1)
Assessmentofbonedysplasiabymicro-CTandglycosaminoglycan levels inmousemodels formucopolysaccharidosis type I , IIIA , IVA , andVII (2013) (1)
224 EXPRESSION PROFILE OF CARBONIC ANHYDRASES IN ARTICULAR CARTILAGE (2011) (1)
Duodenal Expression of the Iron Transporter DMT1 Is Increased in a Murine Model of Hereditary Hemochromatosis (1999) (1)
[Properties and genetic control of the system for accumulation of amino acids in Saccharomyces cerevisiae]. (1965) (1)
The mucolipidoses: multiple hydrolase deficiency diseases. (1977) (1)
Molecular cloning of the mouse gene coding for carbonic anhydrase IV (1996) (1)
CRYSTAL STRUCTURE OF THE EXTRACELLULAR DOMAIN OF HUMAN CARBONIC ANHYDRASE XII (2001) (1)
Human Genetic Mutant Cell Repository Index / Book Review Index, Vol. 15, 1975 (1975) (1)
A retrospective review of the natural course of Mucopolysaccharidosis VII (2013) (0)
Spectrums of Mutations in Mucopolysaccharidosis IVA (Morquio disease) gene (2001) (0)
Genetic disorders of carbonic anhydrases II and IV (2007) (0)
135. Going the extra mile: Strategies to deliver enzyme to resistant sites including delivery across the blood–brain barrier (2009) (0)
The Nobel Path of Cellular Proteins. (2014) (0)
Contents, Vol. 15, 1975 (1975) (0)
Receptor-Mediated Segregation and Transport of Lysosomal Enzymes (1982) (0)
Successful DNA‐based prenatal diagnosis of the 728+1 g→t mutation at the exon 6‐intron 6 junction in the carbonic anhydrase II gene (1999) (0)
CRYSTAL STRUCTURE OF THE EXTRACELLULAR DOMAIN OF HUMAN CARBONIC ANHYDRASE XII COMPLEXED WITH ACETAZOLAMIDE (2001) (0)
Intrinsic thermodynamics of high affinity inhibitor binding to recombinant human carbonic anhydrase IV (2017) (0)
Recombinant human β-glucuronidase enzyme replacement therapy for mucopolysaccharidosis type VII: report of the first patient treated (2014) (0)
A Pseudodeficiency Allele (D I 52N) of the Human p-Glucuronidase Gene (2007) (0)
Beta-glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis. (1998) (0)
Human Breast Cancer Insulin-like Growth Factor Receptor Expression and Function in Updated (2006) (0)
LSD Exposure in Utero (1970) (0)
Carbonic Anhydrase XIV Is Necessary for a Normal Retinal Light Response (2005) (0)
High-affinity lactate uptake is facilitated by an extracellular, but not by an intracellular carbonic anhydrase (2011) (0)
A New Approach to Develop Mice Model (2001) (0)
Crystal Structure of the Extracellular Domain of Murine Carbonic Anhydrase XIV in Complex with Acetazolamide (2004) (0)
The Mannose 6-Phosphate/Insulin-like Growth Factor-II Receptor Is a Substrate of Type V Transforming Growth Factor-b Receptor* (1999) (0)
Defective acidification ofendosomes inChinese hamster ovarycell mutants "cross-resistant (1983) (0)
Insulin-like Growth Factor Receptor Expression and Function in Human Breast Cancer1 (2006) (0)
Intermediate golgi alpha-D-mannosidosis and mucolipidosis II and III. (1981) (0)
CHARACTERIZATION AND QUANTIZATION OF HEPCIDIN FROM HUMAN AND MOUSE SERUM AND SECRETION MEDIUM FROM HUMAN LIVER CELL LINE, HU.7 BY MALDI-TOF MASS SPECTROMETRY (2013) (0)
Mechanism of lambda-c17cI virulence. (1969) (0)
Mouse model of N -acetylgalactosamine-6-sulfate sulfatase deﬁciency ( Galns (cid:1) / (cid:1) ) produced by targeted disruption of the gene defective in Morquio A disease (2003) (0)
AE1 and carbonic anhydrase II: are they colocalized and do they exhibit direct functional interaction in cell membranes? (2009) (0)
Crystal structure for the complex of human carbonic anhydrase IV and 4-aminomethylbenzene sulfonamide (2017) (0)
Beta-glucuronidase deficiency mucopolysaccharidosis. Repository identification No. GM-121. (1975) (0)
A Pseudodeficiency Allele ( DI 52 N ) of the Human ß-Glucuronidase Gene (2018) (0)
New insights into cell and membrane transport processes Edited by G. Poste and S. T. Crooke. New York: Plenum Press. (1986). 434 pp. $55.00 (1987) (0)
Renal responses to acetazolamide and parethyroid hormone in carbonic anhydrase II. deficiency (1984) (0)
ENZYME THERAPY: EVIDENCE FOR TWO DISTINCT RECEPTORS THAT MEDIATE UPTAKE AND CLEARANCE OF HUMAN β-GLUCURONIDASE (1977) (0)
The insulin-like growth factor II receptor: A potential growth suppressor gene in colorectal carcinoma cells (1998) (0)
Human Genetic Mutant Cell Repository Index / Book Review Index, Vol. 14, 1975 (1975) (0)
Quantitative Evaluation of Bones in Murine MPS VII After Replacement Therapy Using Chemically Modified Enzyme (2012) (0)
Crystal structure for the complex of human carbonic anhydrase IV and topiramate (2017) (0)
DMT1 mediates enhanced intestinal iron absorption in hereditary haemochromatosis (2001) (0)
Development of Morquio A Mice and Enzyme Replacement Therapy (2001) (0)
human and mouse b-glucuronidase (2003) (0)
Metabolism A, AN INTERMEDIATE IN THE FORMATE-DEPENDENT DECOMPOSITION OF ACETYL PHOSPHATE IN CLOSTRIDIUM (2003) (0)
Enveloped virus acquires membrane defect when passaged in fibroblasts from I-cell disease patients (0)
ER stress and apoptosis‐inducing mutations in carbonic anhydrase IV associated with retinitis pigmentosa (RP17) respond to chemical chaperones (2006) (0)
Subject Index Vol. 14, 1975 (1975) (0)
Insulin-like Growth Factor Receptor Expression and Function in Human Breast (2006) (0)
anhydrase II deficiency syndrome Bone marrow transplantation corrects osteopetrosis in the carbonic (2013) (0)
Multiple recognition forms of humman beta-glucuronidase and their pinocytosis receptors: implicatons for enzyme therapy. (1980) (0)
Cloning , sequencing , and expression of cDNA for human , 3-glucuronidase ( lysosomal enzymes / mucopolysaccharidosis type VII / COS cells / simian virus 40 / alternate splicing ) (0)
Erratum: (Mammalian Genome (1996) 7:9 (2465-2494)) (1997) (0)
Subject Index Vol. 15, 1975 (1975) (0)
Crystal structure for the complex of human carbonic anhydrase IV and ethoxyzolamide (2017) (0)
Multiple isoelectric and recognition forms of human beta-glucuronidase activity. (1975) (0)
to human and mouse β-glucuronidase (2006) (0)
Letter from William S. Sly to Marshall W. Nirenberg (1987) (0)

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