Description
Springer Membrane Transporter Diseases 1st Editon 2012 Softbound by Stefan Bröer, Carsten A. Wagner
Every cell and organism faces the problem of spaces, made up of the two leaflets of the lipid generating a confined space in which metabolic bilayer. The importance of traffic and signaling across membranes is reflected by the estimate and anabolic reactions take place and at the same time allowing entry and exit of metabo that 20% of all genes in the human genome encode membrane proteins. A failure of any of lites, ions, proteins, and signals across its bor der. Evolution has solved the problem by these proteins may have dramatic con se generating lipid membranes that contain trans quences for ceH function. In recent years much porters, ion channels, and receptors. In eukary attention has been paid to diseases resulting otic cells, this problem is exacerbated by the from nonfunctional ion channels ('chan presence of multiple organelles, which are con nelopathies'). Not surprisingly, many of these fined spaces in their own right. Even the lipid diseases affect the excitability of cells. membrane consists of two relatively separate Transporter diseases (perhaps coined 'carrier vi PREFACE diseases') are more related to metabolic dis Each chapter is concluded by a summary, and eases, Transporters are frequently found at the most chapters also contain an overview of the beginning or the end of metabolic pathways clinical features of a particular transporter and as a result can have similar effects to disease. a missing enzyme. 1. Introduction to membrane transport Stefan Bröer 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 Bröer, 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.