Title | Membrane Transporter Diseases [electronic resource] / edited by Stefan Brรถer, Carsten A. Wagner |
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Imprint | Boston, MA : Springer US : Imprint: Springer, 2003 |
Connect to | http://dx.doi.org/10.1007/978-1-4419-9023-5 |
Descript | XIII, 390 p. online resource |
1. Introduction to membrane transport Stefan Brรถer and Carsten A. Wagner -- Renal Transport of Electrolytes and Acid-Base Equivalents -- 2. Introduction -- 3. Diseases of mutations in the SLC4A1/AE1 (band 3) Cl?/HCO3? exchanger -- 4 Electrogenic Na+/HCO3? cotransporter NBCl (SLC4A4): proximal renal tubular acidosis and ocular pathologies -- Transporters of Trace Elements and Biominerals -- 5. Introduction -- 6. Anion exchangers DTDST (SLC26A2), DRA (SLC26A3), and Pendrin (SLC26A4) -- 7. Divalent metal transporter DMT1 (SLC11A2) -- 8. Iron transporter ferroportin FPN1 Antonello Pietrangelo -- Transporters of Energy Metabolites and Building Blocks -- 9. Introduction -- 10. Aspartate glutamate carrier (citrin) deficiency -- 11. The OCTN2 carnitine transporter and fatty acid oxidation -- 12. The facilitative glucose transporter 2: pathophysiological role in mouse and human -- 13. Glucose-6-phosphate transporter: the key to glycogen storage disease type Ib -- 14. Heteromeric amino acid transporters: cystinuria and lysinuric protein intolerance -- 15. Lysosomalsialic acid transporter sialin (SLC17A5): sialic acid storage disease (SASD) -- 16. Thiamine-responsive megaloblastic anemia (TRMA) syndrome: consequences of defective high-affinity thiamine transport -- ABC Transporters -- 17. Introduction Stefan Brรถer, Wolfgang E. Kaminski, and Gerd Schmitz -- 18. Canalicular multispecific organic anion transporterABCC2 -- 19. Phospholipid transporters ABC1 and ABCA7 -- 20. The role of ABCR(ABCA4) in photoreceptor cells and Stargardt macular degeneration -- 21. Function of the transporter associated with antigen processing (TAP) in cellular immunity, tumor escape, and virus persistence -- Transporters Involved in Signal Transduction -- 22. Introduction -- 23. Molecular genetics of transporters for norepinephrine, dopamine, and serotoninin behavioral traits and complex diseases -- 24. Inherited disorders of Ca2+-ATPases