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Human carbonic anhydrases and carbonic anhydrase deficiencies.
Carbonic anhydrases (CAs I-VII) are products of a gene family that encodes seven isozymes and several homologous, CA- related proteins. All seven isozymes have been cloned, sequenced, and mapped, andExpand
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The Hemochromatosis Founder Mutation in HLA-H Disrupts β2-Microglobulin Interaction and Cell Surface Expression*
We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis (HH), calledHLA-H, which is a novel member of the major histocompatibility complex class I family. AExpand
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HFE gene knockout produces mouse model of hereditary hemochromatosis.
  • X. Zhou, S. Tomatsu, +12 authors W. Sly
  • Medicine, Biology
  • Proceedings of the National Academy of Sciences…
  • 3 March 1998
Hereditary hemochromatosis (HH) is a common autosomal recessive disease characterized by increased iron absorption and progressive iron storage that results in damage to major organs in the body.Expand
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  • Open Access
Human carbonic anhydrase XII: cDNA cloning, expression, and chromosomal localization of a carbonic anhydrase gene that is overexpressed in some renal cell cancers.
We report 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 autologousExpand
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  • Open Access
Clinical course of sly syndrome (mucopolysaccharidosis type VII)
Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients’ phenotypes vary from severe forms with hydrops fetalis,Expand
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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. Clinical features include short stuature, hepaosplenomegaly,Expand
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Purification and characterization of human salivary carbonic anhydrase.
  • H. Murakami, W. Sly
  • Chemistry, Medicine
  • The Journal of biological chemistry
  • 25 January 1987
A novel carbonic anhydrase was purified from human saliva with inhibitor affinity chromatography followed by ion-exchange chromatography. The molecular weight was determined to be 42,000 on sodiumExpand
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Crystal structure of the dimeric extracellular domain of human carbonic anhydrase XII, a bitopic membrane protein overexpressed in certain cancer tumor cells
Overexpression of the zinc enzyme carbonic anhydrase (CA; EC 4.2.1.1) XII is observed in certain human cancers. This bitopic membrane protein contains an N-terminal extracellular catalytic domain, aExpand
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  • Open Access
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
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  • Open Access
Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis.
Hereditary hemochromatosis (HH) is a common autosomal recessive disease associated with loss of regulation of dietary iron absorption and excessive iron deposition in major organs of the body.Expand
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  • Open Access