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.
Erscheinungsdatum: 17.09.2012

lgrsnf/A:\compressed\10.1007%2F978-1-4419-9023-5.pdf

nexusstc/Membrane Transporter Diseases/01be1f78940fb9ede763cff576991416.pdf

scihub/10.1007/978-1-4419-9023-5.pdf

zlib/Medicine/Stefan Bröer, Carsten A. Wagner (auth.), Stefan Bröer, Carsten A. Wagner (eds.)/Membrane Transporter Diseases_2142813.pdf

Stefan Br\xf6er, Carsten A. Wagner

Springer London, Limited

Springer Nature

United States, United States of America

Springer Nature, New York, NY, 2012

Boston, MA, 2003

Sep 17, 2012

1, 20110628

2003, 2012

sm22958732

{"edition":"1","isbns":["1441990232","1461347610","9781441990235","9781461347613"],"last_page":390,"publisher":"Springer US"}

Front Matter....Pages i-xiii
Introduction to membrane transport....Pages 1-25
Front Matter....Pages 27-27
Introduction....Pages 29-38
Front Matter....Pages 39-63
Introduction....Pages 65-79
Anion exchangers DTDST (SLC26A2), DRA (SLC26A3), and pendrin (SLC26A4)....Pages 81-81
Divalent metal transporter DMT1 (SLC11A2)....Pages 83-92
Iron transporter ferroportin FPN1....Pages 93-105
Front Matter....Pages 107-122
Introduction....Pages 123-131
Aspartate glutamate carrier (citrin) deficiency....Pages 133-133
The OCTN2 carnitine transporter and fatty acid oxidation....Pages 135-145
The facilitative glucose transporter 2: pathophysiological role in mouse and human....Pages 147-160
Glucose-6-phosphate transporter: the key to glycogen storage disease type Ib....Pages 161-174
Heteromeric amino acid transporters: cystinuria and lysinuric protein intolerance....Pages 175-190
Lysosomal sialic acid transporter sialin (SLC17A5): sialic acid storage disease (SASD)....Pages 191-205
Thiamine-responsive megaloblastic anemia (TRMA) syndrome: consequences of defective high-affinity thiamine transport....Pages 207-231
Front Matter....Pages 233-239
Introduction....Pages 241-248
Canalicular multispecific organic anion transporter ABCC2....Pages 249-249
Phospholipid transporters ABCA1 and ABCA7....Pages 251-261
The role of ABCR (ABCA4) in photoreceptor cells and Stargardt macular degeneration....Pages 263-289
Front Matter....Pages 291-299
Function of the transporter associated with antigen processing (TAP) in cellular immunity, tumor escape, and virus persistence....Pages 301-317
Front Matter....Pages 249-249
Introduction....Pages 319-337
Molecular genetics of transporters for norepinephrine, dopamine, and serotonin in behavioral traits and complex diseases....Pages 339-339
Ca 2+ -ATPase Genes and Related Diseases....Pages 341-348
Back Matter....Pages 349-364
....Pages 365-381

This text represents the first collection of transport-associated diseases. Each chapter is devoted to a particular disease and describes the role of the transporter under physiologic conditions, including how this translates into the phenotype of the disease when the transporter is also included. This title includes short summaries on the physiological role of the transporters, structure, and pathophysiology, which makes the book accessible to clinicians as well

2013-08-01