William. S. Sly
#120,576
Most Influential Person Now
William. S. Sly's AcademicInfluence.com Rankings
William. S. Slybiology Degrees
Biology
#7283
World Rank
#10178
Historical Rank
Biochemistry
#994
World Rank
#1107
Historical Rank

Download Badge
Biology
Why Is William. S. Sly Influential?
(Suggest an Edit or Addition)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)
This paper list is powered by the following services:
What Schools Are Affiliated With William. S. Sly?
William. S. Sly is affiliated with the following schools: