Human carbonic anhydrases and carbonic anhydrase deficiencies.
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.
Expression of hypoxia-inducible cell-surface transmembrane carbonic anhydrases in human cancer.
- S. Ivanov, S. Liao, E. Stanbridge
- BiologyAmerican Journal of Pathology
- 1 March 2001
Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
- W. Sly, D. Hewett‐Emmett, M. Whyte, Y. S. Yu, R. Tashian
- Medicine, BiologyProceedings of the National Academy of Sciences…
- 1 May 1983
The clinical, radiological, and pathological findings in three siblings affected with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification have…
The Hemochromatosis Founder Mutation in HLA-H Disrupts β2-Microglobulin Interaction and Cell Surface Expression*
- J. Feder, Z. Tsuchihashi, R. Schatzman
- BiologyJournal of Biological Chemistry
- 30 May 1997
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.
HFE gene knockout produces mouse model of hereditary hemochromatosis.
- X. Zhou, S. Tomatsu, W. Sly
- Biology, MedicineProceedings 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.
The Taste of Carbonation
- J. Chandrashekar, David A. Yarmolinsky, C. Zuker
- 16 October 2009
It is demonstrated that the sour-sensing cells act as the taste sensors for carbonation, and showed that carbonic anhydrase 4, a glycosylphosphatidylinositol-anchored enzyme, functions as the principal CO2 taste sensor.
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.
- W. Sly, B. Quinton, W. Mcalister, D. Rimoin
- Medicine, BiologyJornal de Pediatria
- 1 February 1973
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.
Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis.
- S. Parkkila, A. Waheed, W. Sly
- BiologyProceedings of the National Academy of Sciences…
- 25 November 1997
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.
Carbonic Anhydrase IX Promotes Tumor Growth and Necrosis In Vivo and Inhibition Enhances Anti-VEGF Therapy
- A. McIntyre, S. Patiar, A. Harris
- Biology, MedicineClinical Cancer Research
- 12 April 2012
Evidence is provided that inhibition of the hypoxic adaptation to antiangiogenic therapy enhances bevacizumab treatment and highlights the value of developing small molecules or antibodies which inhibit CAIX for combination therapy.