• Publications
  • Influence
Human carbonic anhydrases and carbonic anhydrase deficiencies.
  • W. Sly, P. Hu
  • Chemistry, Medicine
  • Annual review of biochemistry
  • 1995
Structural and kinetic studies of recombinant natural and mutant CAs have greatly increased the understanding of the structural requirements for catalysis, and analyses of human and animal CA deficiencies provide unique opportunities to understand the individual contributions of different isozymes. Expand
Expression of hypoxia-inducible cell-surface transmembrane carbonic anhydrases in human cancer.
The studies show an important causal link between hypoxia, extracellular acidification, and induction or enhanced expression of these enzymes in human tumors and conclude that the cell surface transmembrane carbonic anhydrases CA IX and CA XII are overexpressed in many tumors suggesting that this is a common feature of cancer cells that may be required for tumor progression. Expand
The Hemochromatosis Founder Mutation in HLA-H Disrupts β2-Microglobulin Interaction and Cell Surface Expression*
The first functional significance of the C282Y mutation is described by suggesting that an abnormality in protein trafficking and/or cell-surface expression of HLA-H leads to HH disease. Expand
Human carbonic anhydrase XII: cDNA cloning, expression, and chromosomal localization of a carbonic anhydrase gene that is overexpressed in some renal cell cancers.
The cloning and characterization of a tumor-associated carbonic anhydrase (CA) that was identified in a human renal cell carcinoma (RCC) by serological expression screening with autologous antibodies is reported and its relationship to oncogenesis and its potential as a clinically useful tumor marker clearly merit further investigation. Expand
HFE gene knockout produces mouse model of hereditary hemochromatosis.
  • X. Zhou, S. Tomatsu, +12 authors W. Sly
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences…
  • 3 March 1998
The knockout mouse model of HH will facilitate investigation into the pathogenesis of increased iron accumulation in HH and provide opportunities to evaluate therapeutic strategies for prevention or correction of iron overload. Expand
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.
Clinical, radiologic, and biochemical studies are presented of a patient with a previously undescribed mucopolysaccharide storage disease, suggesting an autosomal recessive inheritance. Expand
Purification and characterization of human salivary carbonic anhydrase.
  • H. Murakami, W. Sly
  • Medicine, Chemistry
  • The Journal of biological chemistry
  • 25 January 1987
It is concluded that the salivary carbonic anhydrase is immunologically and genetically related to CA II, but that it is a novel and distinct isozyme which the authors tentatively designate CA VI. Expand
Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
The clinical, radiological, and pathological findings in three siblings affected with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification haveExpand
Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis.
It is demonstrated by immunohistochemistry that the HFE protein is expressed in human placenta in the apical plasma membrane of the syncytiotrophoblasts, where the transferrin-bound iron is normally transported to the fetus via receptor-mediated endocytosis. Expand
Carbonic anhydrase IV from human lung. Purification, characterization, and comparison with membrane carbonic anhydrase from human kidney.
  • X. L. Zhu, W. Sly
  • Chemistry, Medicine
  • The Journal of biological chemistry
  • 25 May 1990
We have purified carbonic anhydrase (CA) IV from human lung membranes to apparent homogeneity in a form which is catalytically active and stable to storage. It has an apparent molecular mass of 35Expand