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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
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
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
Characterization of CA XIII, a Novel Member of the Carbonic Anhydrase Isozyme Family*
The predicted amino acid sequence, structural model, distribution, and activity data suggest that CA XIII represents a novel enzyme, which may play important physiological roles in several organs. Expand
Crystal structure of the catalytic domain of the tumor-associated human carbonic anhydrase IX
On the basis of the structural differences observed between CA IX and the other membrane-associated α-CAs, further prospects for the rational drug design of isozyme-specific CA inhibitors are proposed, given that inhibition of this enzyme shows antitumor activity both in vitro and in vivo. Expand
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.
Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder known in humans. A candidate gene for HH called HFE has recently been cloned that encodes a novel member of the majorExpand
Experimental liver cirrhosis induced by alcohol and iron.
Evidence is provided for a critical role of iron and iron-catalyzed oxidant stress in progression of alcoholic liver disease by intragastrically infused rats with or without ethanol to determine if alcoholic liver fibrogenesis is exacerbated by dietary iron supplementation. Expand
Carbonic anhydrases: current state of the art, therapeutic applications and future prospects.
The use of such CA inhibitors (CAIs) as antiglaucoma drugs are discussed in detail, together with the recent developments that led to isozyme-specific and organ-selective inhibitors. Expand
Biochemical Characterization of CA IX, One of the Most Active Carbonic Anhydrase Isozymes*
Investigations on the oligomerization and stability of the enzymes revealed that both recombinant proteins form dimers that are stabilized by intermolecular disulfide bond(s). Expand
Expression of the Membrane-associated Carbonic Anhydrase Isozyme XII in the Human Kidney and Renal Tumors
The segmental, cellular, and subcellular distribution of CA XII along the human nephron and collecting duct suggests that it may be one of the key enzymes involved in normal renal physiology, particularly in the regulation of water homeostasis. Expand