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Page 1

Membrane Transporter
Diseases

Page 2

Membrane T ransporter
Diseases

Edited by

Stefan B r6er
Australian National University

Canberra, Australia

and

Carsten A. Wagner
University of Zurich
Zurich, Switzerland

Springer Science+Business Media, LLC

Page 190

188 MARe FORETZ ANO BERNARO THORENS

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Page 191

FAClLlTATIVE GLUCOSE TRANSPORTER 2 189

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Page 380

Index

Serotonin, 343, 344, 349
spectrum disorders, 357
transporter, 356-359

mutations, 358
Severe combined immunodeficiency, 326
SGLTI, 19, 141, 175
SGLT2, 19, 141, 175
Sialic acid 233-238

H + cotransporter, 144
metabolism, 234
storage disease, 19, 144, 233

Sialin, 19, 233, 236
Silicon oiI centrifugation, II
Siluria, 233
Sitosterolemia, 21, 256
SLC families

associated disease, 19-21
overview, 17, 19-21

SLC: see individual transporter according to Tahles 1
and 4

SLCI9A3, 245
SLC2 family overview, 177
SLC21A7,257
SLC22A5, 20, 172
SLC25 family overview, 148, 149
SLC26 family overview, 95
SLC3 family, 19, 208
SLC35 family, 20, 142
SLC7 family, 19, 208
Solute carrier families: see SLC families
Southeast Asian ovalocytosis, 19, 51, 58
SPCA, 365-368
Spherocytosis, 19, 42
Stargadt disease, 21, 259, 301, 302, 309-312
Substantia nigra, 344
Sulfate transport, 93-96
Sulfated proteoglycans, 96
Sulfate-drug conjugates, 256
Sulfation 97,Sulfonylurea receptor, 139, 251
Superoxide dismutase, 86
Surface antigen 4F2hc, 207, 217, 218
S ynapse, 341

Tangier disease, 21, 258
TAP, 260, 321-332

ATP hydrolysis, 324
expression, 323
genomic organisation, 322
peptide specificity, 325
structure, 323
viral inhibitors, 328-331

T-cell receptor, 320
Thiamine, 144

deficiency, 243
metabolism, 242
pyrophosphate, 242
-responsive megaloblastic anemia, 19,241-246

Thiamine (cont.)
transporter, 19, 144, 241-246

cloning, 243
mutations, 244

Thiocyanate, 85
Thyroglobulin, 84, 85
Thyroid gland, 84
Thyroperoxidase, 85
Thyrotropin releasing hormone, 85
Thyroxin, 83

binding globulin, 85
TIM-barrel, 210, 211
Topoisomerase, 2
Transaldolase, 246
Transcytosis, 108, 109
Transferrin, 89, 108, 109, 123, 124

cycle, 113, 117
-independent iron uptake, 109
receptor, 89, 91, 109, 117, 118, 124

Transketolase, 246
Transmembrane domains, 7, 8
Transport mechanism, 3-5

389

Transporter associated with antigen processing: see TAP
Transporter cloning and isolation, 10-14
Transporter structure, 5-10
Triacylglycerol, 257
Tricarboxylic acid cycle, 137, 243
Triglyceride synthesis, 156 .
Triiodothyronine, 83
TRMA: see Thiamine-responsive megaloblastic anemia
Trypsin inhibitor, ISI
Tumor development, 331

Ultrafiltration, 29
Uniporter, 4
Urea cycJe, 138, 144, 150, 154, 155, 168, 219
Urea transporter, 31
Urolithiasis, 215

Vacuolar H+ -ATPase, 20, 34, 35, 37, 109, 143, 234, 341
Valinomycin, 12
Vanadate trapping, 254, 257
V-ATPase, 20, 34, 35, 37, 109, 143, 234, 341
Ventral tegmental area, 344
Very low density lipoprotein: see VLDL
Very-Iong chain fatty acids, 137, 259
Vesicular GABA transporter, 342
Vesicular glutamate transporters, 237, 342
Vesicular monoamine transporter, 353
Vesicular neurotransmitter transporter, 342
Virus persistence, 328, 329
Visual cycle, 306, 307
Vitamin C, III, IlS
Vitamins. 144
VLDL, 257, 258
Voltage clamp, 14, 72
Voltage-dependent Ca2+ channels, 139

Page 381

390

Wemicke-Korsakoff syndrome, 242
Wilson's disease, 20, 21, 83, 86, 88
WNK kinase, 34
Woodward's reagent K, 41

Xanthomas elasticum, 259

Xenobiotics, 256, 266, 275
Xenopus laevis oocytes, 12-14, 55, 70, 72
X-linked adrenoleukodystrophy, 259
X-linked sideroblastic anemia, 21

Zinc, 83, HO

Index

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