Hereditary renal tubular acidosis

Molecular and Genetic Basis of Renal Disease

Volumn , Issue , 2008, Pages 269-294

  Kurschat, Christine E ^a,b   Alper, Seth L ^c  

^a BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^b HEINRICH HEINE UNIVERSITY   (Germany)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882562872     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-1-4160-0252-9.50021-5     Document Type: Chapter

References (241)

1. Rodriguez-Soriano J New insights into the pathogenesis of renal tubular acidosis-from functional to molecular studies. Pediatr Nephrol 2000, 14:1121-1136.
2. Rodriguez-Soriano J Renal tubular acidosis: The clinical entity. J Am Soc Nephrol 2002, 13:2160-2170.
3. Igarashi T, Sekine T, Inatomi J, Seki G Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis. J Am Soc Nephrol 2002, 13:2171-2177.
4. Quigley R Proximal renal tubular acidosis. J Nephrol 2006, 19(Suppl 9):S41-S45.
5. Toye AM Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA). Biochem Soc Symp X 2005, 47-63.
6. - exchanger associated with inherited distal renal tubular acidosis. Clin Exp Nephrol 2004, 8:1-11.
7. Nicoletta JA, Schwartz GJ Distal renal tubular acidosis. Curr Opin Pediatr 2004, 16:194-198.
8. Wrong O, Bruce LJ, Unwin RJ, et al. Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis. Kidney Int 2002, 62:10-19.
9. Alper SL Genetic diseases of acid-base transporters. Annu Rev Physiol 2002, 64:899-923.
10. Karet FE Inherited distal renal tubular acidosis. J Am Soc Nephrol 2002, 13:2178-2184.
11. Laing CM, Unwin RJ Renal tubular acidosis. J Nephrol 2006, 19(Suppl 9):S46-S52.
12. Aalkjaer C, Frische S, Leipziger J, et al. Sodium coupled bicarbonate transporters in the kidney, an update. Acta Physiol Scand 2004, 181:505-512.
13. +-ATPases). J Exp Biol 2000, 203:71-80.
14. +-ATPase. Physiol Rev 2004, 84:1263-1314.
15. + ATPase: Molecular structure and function, physiological roles and regulation. J Exp Biol 2006, 209:577-589.
16. Alper SL Molecular physiology of SLC4 anion exchangers. Exp Physiol 2006, 91:153-161.
17. 2-) transporters: Classification, function, structure, genetic diseases, and knockout models. Am J Physiol Renal Physiol 2006, 290:F580-F599.
18. Romero MF Molecular pathophysiology of SLC4 bicarbonate transporters. Curr Opin Nephrol Hypertens 2005, 14:495-501.
19. Mount DB, Romero MF The SLC26 gene family of multifunctional anion exchangers. Pflugers Arch 2004, 447:710-721.
20. - transporters. Pflugers Arch 2004, 447:495-509.
21. - exchanger. Membrane Transporter Diseases 2003, 39-63. Kluwer/Plenum, New York. S. Broer, C.A. Wagner (Eds.).
22. - exchangers. J Nephrol 2002, 15(Suppl 5):S41-S53.
23. Schwartz GJ Physiology and molecular biology of renal carbonic anhydrase. J Nephrol 2002, 15(Suppl 5):S61-S74.
24. Tsuruoka S, Kittelberger AM, Schwartz GJ Carbonic anhydrase II and IV mRNA in rabbit nephron segments: Stimulation during metabolic acidosis. Am J Physiol 1998, 274:F259-F267.
25. - reabsorption by rabbit S2 proximal tubules. Am J Physiol Renal Physiol 2006, 291:F358-F367.
26. +: Recent concepts. Nephron Physiol 2005, 101:77-81.
27. Schroeder JM, Ibrahim H, Taylor L, Curthoys NP Role of deadenylation and AUF1 binding in the pH-responsive stabilization of glutaminase mRNA. Am J Physiol Renal Physiol 2006, 290:F733-F740.
28. de Silva MG, Elliott K, Dahl HH, et al. Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype. J Med Genet 2003, 40:733-740.
29. Orlowski J, Grinstein S Diversity of the mammalian sodium/proton exchanger SLC9 gene family. Pflugers Arch 2004, 447:549-565.
30. - cotransporters: Cloning and physiology. Annu Rev Physiol 1999, 61:699-723.
31. Boron WF, Boulpaep EL Intracellular pH regulation in the renal proximal tubule of the salamander. Na-H exchange. J Gen Physiol 1983, 81:29-52.
32. - cotransporter. Nature 1997, 387:409-413.
33. -cotransporter (NBCe1) variants expressed in Xenopus oocytes: Functional comparison and roles of the amino and carboxy termini. J Gen Physiol 2006, 127:639-658.
34. -) cotransporter, rkNBC, expressed in oocytes. Am J Physiol 1999, 277:F611-F623.
35. 2+ concentration. Pflugers Arch 2001, 442:718-728.
36. Gross E, Hawkins K, Abuladze N, et al. The stoichiometry of the electrogenic sodium bicarbonate cotransporter NBC1 is cell-type dependent. J Physiol 2001, 531:597-603.
37. -) cotransporter stoichiometry. Am J Physiol Renal Physiol 2002, 283:F876-F887.
38. Pushkin A, Abuladze N, Gross E, et al. Molecular mechanism of kNBC1-carbonic anhydrase II interaction in proximal tubule cells. J Physiol 2004, 559:55-65.
39. -- cotransporter by carbonic anhydrase II and PKA. Am J Physiol Cell Physiol 2004, 286:C1423-C1433.
40. - cotransporter NBCe1-A in Xenopus oocytes. J Biol Chem 2006, 281:19241-19250.
41. - cotransporters NBCn1 and NBC3 but not NBC1. Am J Physiol Renal Physiol 2002, 282:F341-F351.
42. Amlal H, Chen Q, Greeley T, et al. Coordinated down-regulation of NBC-1 and NHE-3 in sodium and bicarbonate loading. Kidney Int 2001, 60:1824-1836.
43. - absorption in rat medullary thick ascending limb. Am J Physiol Renal Physiol 2004, 287:F57-F63.
44. - exchanger AE2 in rat thick ascending limb of Henle's loop in response to changes in acid-base and sodium balance. J Am Soc Nephrol 2004, 15:2988-2997.
45. Herrera M, Ortiz PA, Garvin JL Regulation of thick ascending limb transport: Role of nitric oxide. Am J Physiol Renal Physiol 2006, 290:F1279-F1284.
46. - absorption through actin cytoskeleton remodeling in renal thick ascending limb. J Biol Chem 2005, 280:11439-11447.
47. +exchanger gene family. J Nephrol 2002, 15(Suppl 5):S3-S21.
48. Batlle D, Ghanekar H, Jain S, Mitra A Hereditary distal renal tubular acidosis: new understandings. Annu Rev Med 2001, 52:471-484.
49. Wagner CA, Geibel JP Acid-base transport in the collecting duct. J Nephrol 2002, 15(Suppl 5):S112-S127.
50. Wall SM Recent advances in our understanding of intercalated cells. Curr Opin Nephrol Hypertens 2005, 14:480-484.
51. Schwaderer AL, Vijayakumar S, Al-Awqati Q, Schwartz GJ Galectin-3 expression is induced in renal β-intercalated cells during metabolic acidosis. Am J Physiol Renal Physiol 2006, 290:F148-F158.
52. Schwartz GJ, Tsuruoka S, Vijayakumar S, et al. Acid incubation reverses the polarity of intercalated cell transporters, an effect mediated by hensin. J Clin Invest 2002, 109:89-99.
53. Schwartz GJ, Barasch J, Al-Awqati Q Plasticity of functional epithelial polarity. Nature 1985, 318:368-371.
54. Hurtado-Lorenzo A, Skinner M, El Annan J, et al. V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway. Nat Cell Biol 2006, 8:124-136.
55. +-ATPase assembly, translocation, and acidification of intracellular compartments in renal epithelial cells. Mol Cell Biol 2005, 25:575-589.
56. +-ATPase. J Biol Chem 2004, 279:8732-8739.
57. +-ATPase isoforms in human kidney. Am J Physiol Renal Physiol 2001, 281:F763-F768.
58. +-ATPase. Kidney Int 1999, 56:2160-2167.
59. +-ATPase activities in the mouse kidney. Pflugers Arch 2006, 451:769-775.
60. - exchanger. J Biol Chem 1998, 273:28430-28437.
61. Sterling D, Reithmeier RA, Casey JR A transport metabolon. Functional interaction of carbonic anhydrase II and chloride/bicarbonate exchangers. J Biol Chem 2001, 276:47886-47894.
62. +-ATPases) in rat cortex by acute metabolic acidosis and alkalosis. Kidney Int 1997, 51:125-137.
63. Huber S, Asan E, Jons T, et al. Expression of rat kidney anion exchanger 1 in type A intercalated cells in metabolic acidosis and alkalosis. Am J Physiol 1999, 277:F841-F849.
64. Lohi H, Kujala M, Makela S, et al. Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. J Biol Chem 2002, 277:14246-14254.
65. - exchanger specific to intercalated cells of the outer medullary collecting duct. Am J Physiol Renal Physiol 2004, 286:F161-F169.
66. Xu J, Worrell RT, Li HC, et al. Chloride/bicarbonate exchanger SLC26A7 is localized in endosomes in medullary collecting duct cells and is targeted to the basolateral membrane in hypertonicity and potassium depletion. J Am Soc Nephrol 2006, 17:956-967.
67. - exchangers SLC26A7 and AE1 in kidney outer medullary collecting duct. J Am Soc Nephrol 2004, 15:2002-2011.
68. - exchanger SLC26A7 in kidney medullary collecting ducts of Brattleboro rats. Am J Physiol Renal Physiol 2006, 290:F1194-F1201.
69. - channel regulated by intracellular pH. J Biol Chem 2005, 280:6463-6470.
70. Dudas PL, Mentone S, Greineder CF, et al. Immunolocalization of anion transporter Slc26a7 in mouse kidney. Am J Physiol Renal Physiol 2006, 290:F937-F945.
71. +-ATPase. Proc Natl Acad Sci U S A 1989, 86:5429-5433.
72. - exchanger of β-intercalated cells. J Biol Chem 1993, 268:11283-11289.
73. Royaux IE, Wall SM, Karniski LP, et al. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci U S A 2001, 98:4221-4226.
74. Kim YH, Kwon TH, Frische S, et al. Immunocytochemical localization of pendrin in intercalated cell subtypes in rat and mouse kidney. Am J Physiol Renal Physiol 2002, 283:F744-F754.
75. Wall SM, Hassell KA, Royaux IE, et al. Localization of pendrin in mouse kidney. Am J Physiol Renal Physiol 2003, 284:F229-F241.
76. -/anion exchanger pendrin in mouse kidney by acid-base status. Kidney Int 2002, 62:2109-2117.
77. - exchanger pendrin in rat cortical collecting duct in metabolic acidosis. Am J Physiol Renal Physiol 2003, 284:F103-F112.
78. 3loading. Am J Physiol Renal Physiol 2003, 284:F584-F593.
79. - exchanger pendrin in the rat kidney is regulated in response to chronic alterations in chloride balance. Am J Physiol Renal Physiol 2004, 287:F1179-F1188.
80. - transporter superfamily is an apical anion exchanger of β-intercalated cells in the kidney. J Biol Chem 2001, 276:8180-8189.
81. -) exchanger in the basolateral membrane of the renal CCD and the SMG duct. Am J Physiol Cell Physiol 2002, 283:C1206-C1218.
82. Tannen RL, Nissim I, Sahi A Hormonal mediators of ammoniagenesis: Mechanism of action of PGF2 α and the implications for other hormones. Kidney Int 1996, 50:15-25.
83. Lowe M Structure and function of the Lowe syndrome protein OCRL1. Traffic 2005, 6:711-719.
84. Donckerwolcke RA, van Stekelenburg GJ, Tiddens HA A case of bicarbonate-losing renal tubular acidosis with defective carboanhydrase activity. Arch Dis Child 1970, 45:769-773.
85. Igarashi T, Ishii T, Watanabe K, et al. Persistent isolated proximal renal tubular acidosis-A systemic disease with a distinct clinical entity. Pediatr Nephrol 1994, 8:70-71.
86. Winsnes A, Monn E, Stokke O, Feyling T Congenital persistent proximal type renal tubular acidosis in two brothers. Acta Paediatr Scand 1979, 68:861-868.
87. Igarashi T, Inatomi J, Sekine T, et al. Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. Nat Genet 1999, 23:264-266.
88. - cotransporter (NBC-1) variants in rat and human pancreas. Am J Physiol Cell Physiol 2003, 284:C729-C737.
89. Horita S, Yamada H, Inatomi J, et al. Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. J Am Soc Nephrol 2005, 16:2270-2278.
90. - cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma. J Am Soc Nephrol 2001, 12:713-718.
91. Dinour D, Chang MH, Satoh J, et al. A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects. J Biol Chem 2004, 279:52238-52246.
92. Inatomi J, Horita S, Braverman N, et al. Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis. Pflugers Arch 2004, 448:438-444.
93. - cotransporter NBC1 show abnormal trafficking in polarized kidney cells: A basis of proximal renal tubular acidosis. Am J Physiol Renal Physiol 2005, 289:F61-F71.
94. Demirci FY, Chang MH, Mah TS, et al. Proximal renal tubular acidosis and ocular pathology: A novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). Mol Vis 2006, 12:324-330.
95. Toye AM, Parker MD, Daly CM, et al. The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia. Am J Physiol Cell Physiol 2006, 291:C788-C801.
96. Quilty JA, Reithmeier RA Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger. Traffic 2000, 1:987-998.
97. - cotransporter gene (SLC4A4) in patients with permanent isolated proximal renal tubular acidosis and ocular abnormalities (Abstract). J Am Soc Nephrol 2003, 14:302A.
98. - cotransporter NBC1 to the basolateral membrane. J Biol Chem 2004, 279:43190-43197.
99. - cotransporter knockout mice (Abstract). Gastroenterology 2006, 130(S2). A-123.
100. Usui T, Hara M, Satoh H, et al. Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis. J Clin Invest 2001, 108:107-115.
101. Bok D, Galbraith G, Lopez I, et al. Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3. Nat Genet 2003, 34:313-319.
102. Reiners J, Nagel-Wolfrum K, Jurgens K, et al. Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res 2006, 83:97-119.
103. Brenes LG, Brenes JN, Hernandez MM Familial proximal renal tubular acidosis. A distinct clinical entity. Am J Med 1977, 63:244-252.
104. Lemann J, Adams ND, Wilz DR, Brenes LG Acid and mineral balances and bone in familial proximal renal tubular acidosis. Kidney Int 2000, 58:1267-1277.
105. +exchanger. Nat Genet 1998, 19:282-285.
106. - reabsorption in renal collecting duct of NHE-3-deficient mouse: A compensatory response. Am J Physiol 1999, 276:F914-F921.
107. Wang T, Yang CL, Abbiati T, et al. Mechanism of proximal tubule bicarbonate absorption in NHE3 null mice. Am J Physiol 1999, 277:F298-F302.
108. Lorenz JN, Schultheis PJ, Traynor T, et al. Micropuncture analysis of single-nephron function in NHE3-deficient mice. Am J Physiol 1999, 277:F447-F453.
109. Goyal S, Mentone S, Aronson PS Immunolocalization of NHE8 in rat kidney. Am J Physiol Renal Physiol 2005, 288:F530-F538.
110. + channel-deficient mice reveals a mechanism for stabilizing bicarbonate transport. Proc Natl Acad Sci U S A 2004, 101:8215-8220.
111. Rodriguez-Soriano J, Boichis H, et al. Proximal renal tubular acidosis. A defect in bicarbonate reabsorption with normal urinary acidification. Pediatr Res 1967, 1:81-98.
112. Nash MA, Torrado AD, Greifer I, et al. Renal tubular acidosis in infants and children. Clinical course, response to treatment, and prognosis. J Pediatr 1972, 80:738-748.
113. Bruce LJ, Cope DL, Jones GK, et al. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J Clin Invest 1997, 100:1693-1707.
114. - exchanger. J Biol Chem 1998, 273:6380-6388.
115. Karet FE, Gainza FJ, Gyory AZ, et al. Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci U S A 1998, 95:6337-6342.
116. Bruce LJ, Robinson HC, Guizouarn H, et al. Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. Nat Genet 2005, 37:1258-1263.
117. 2 terminus. Am J Physiol 1993, 265:F813-F821.
118. Jarolim P, Murray JL, Rubin HL, et al. Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency. Blood 1996, 88:4366-4374.
119. Baehner RL, Gilchrist GS, Anderson EJ Hereditary elliptocytosis and primary renal tubular acidosis in a single family. Am J Dis Child 1968, 115:414-419.
120. Kaitwatcharachai C, Vasuvattakul S, Yenchitsomanus P, et al. Distal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast Asian ovalocytosis. Am J Kidney Dis 1999, 33:1147-1152.
121. Thong MK, Tan AA, Lin HP Distal renal tubular acidosis and hereditary elliptocytosis in a single family. Singapore Med J 1997, 38:388-390.
122. Rysava R, Tesar V, Jirsa M, et al. Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene. Nephrol Dial Transplant 1997, 12:1869-1873.
123. + countertransport and an abnormal renal bicarbonate handling. Blood 1997, 90:2810-2818.
124. Shayakul C, Jarolim P, Zachlederova M, et al. Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis. Nephrol Dial Transplant 2004, 19:371-379.
125. Li J, Quilty J, Popov M, Reithmeier RA Processing of N-linked oligosaccharide depends on its location in the anion exchanger, AE1, membrane glycoprotein. Biochem J 2000, 349:51-57.
126. Quilty JA, Cordat E, Reithmeier RA Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis. Biochem J 2002, 368:895-903.
127. Toye AM, Banting G, Tanner MJ Regions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarised kidney cells: mis-targeting explains dominant renal tubular acidosis (dRTA). J Cell Sci 2004, 117:1399-1410.
128. Cheung JC, Cordat E, Reithmeier RA Trafficking defects of the Southeast Asian ovalocytosis deletion mutant of anion exchanger 1 membrane proteins. Biochem J 2005, 392:425-434.
129. Cordat E, Kittanakom S, Yenchitsomanus PT, et al. Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells. Traffic 2006, 7:117. -28.
130. Toye AM, Bruce LJ, Unwin RJ, et al. Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells. Blood 2002, 99:342-347.
131. Quilty JA, Li J, Reithmeier RA Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1. Am J Physiol Renal Physiol 2002, 282:F810-F820.
132. Devonald MA, Smith AN, Poon JP, et al. Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis. Nat Genet 2003, 33:125-127.
133. Rungroj N, Devonald MA, Cuthbert AW, et al. A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells. J Biol Chem 2004, 279:13833-13838.
134. Chen J, Vijayakumar S, Li X, Al-Awqati Q Kanadaptin is a protein that interacts with the kidney but not the erythroid form of band 3. J Biol Chem 1998, 273:1038-1043.
135. Cowan CA, Yokoyama N, Bianchi LM, et al. EphB2 guides axons at the midline and is necessary for normal vestibular function. Neuron 2000, 26:417-430.
136. Hubner S, Bahr C, Gossmann H, et al. Mitochondrial and nuclear localization of kanadaptin. Eur J Cell Biol 2003, 82:240-252.
137. Kittanakom S, Keskanokwong T, Akkarapatumwong V, et al. Human kanadaptin and kidney anion exchanger 1 (kAE1) do not interact in transfected HEK 293 cells. Mol Membr Biol 2004, 21:395-402.
138. Tanphaichitr VS, Sumboonnanonda A, Ideguchi H, et al. Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. J Clin Invest 1998, 102:2173-2179.
139. Vasuvattakul S, Yenchitsomanus PT, Vachuanichsanong P, et al. Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis. Kidney Int 1999, 56:1674-1682.
140. Sritippayawan S, Sumboonnanonda A, Vasuvattakul S, et al. Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. Am J Kidney Dis 2004, 44:64-70.
141. Bruce LJ, Wrong O, Toye AM, et al. Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: Loss of up to 95% band 3 transport in red cells. Biochem J 2000, 350(Pt 1):41-51.
142. Kittanakom S, Cordat E, Akkarapatumwong V, et al. Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1). J Biol Chem 2004, 279:40960-40971.
143. Choo KE, Nicoli TK, Bruce LJ, et al. Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations. Pediatr Nephrol 2006, 21:212-217.
144. Bruce LJ, Groves JD, Okubo Y, et al. Altered band 3 structure and function in glycophorin A- and B-deficient (MkMk) red blood cells. Blood 1994, 84:916-922.
145. Hassoun H, Hanada T, Lutchman M, et al. Complete deficiency of glycophorin A in red blood cells from mice with targeted inactivation of the band 3 (AE1) gene. Blood 1998, 91:2146-2151.
146. Groves JD, Tanner MJ The effects of glycophorin A on the expression of the human red cell anion transporter (band 3) in Xenopus oocytes. J Membr Biol 1994, 140:81-88.
147. Ribeiro ML, Alloisio N, Almeida H, et al. Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood 2000, 96:1602-1604.
148. Peters LL, Shivdasani RA, Liu SC, et al. Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell 1996, 86:917-927.
149. Southgate CD, Chishti AH, Mitchell B, et al. Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton. Nat Genet 1996, 14:227-230.
150. -exchanger (Slc4a1) (Abstract). J Am Soc Nephrol 2004, 15:70A.
151. Inaba M, Yawata A, Koshino I, et al. Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation. J Clin Invest 1996, 97:1804-1817.
152. Paw BH, Davidson AJ, Zhou Y, et al. Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency. Nat Genet 2003, 34:59-64.
153. +-ATPases) 56-kilodalton subunit in renal intercalated cells. Proc Natl Acad Sci U S A 1992, 89:3541-3545.
154. +-ATPases) in bovine tissues. J Biol Chem 1992, 267:3696-3706.
155. +-ATPase): Differential expression of two human subunit B isoforms. Biochem J 1994, 303(Pt 1):191-198.
156. +-ATPase) in cortical collecting tubules of a patient with Sjögren's syndrome and distal renal tubular acidosis. J Am Soc Nephrol 1992, 3:264-271.
157. +-ATPase in distal nephron causing hypokalaemic distal RTA in a patient with Sjögren's syndrome. Nephrol Dial Transplant 1995, 10:908-909.
158. +-ATPase) and anion exchanger-1. J Am Soc Nephrol 2002, 13:1425-1432.
159. Karet FE, Finberg KE, Nayir A, et al. Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. Am J Hum Genet 1999, 65:1656-1665.
160. +-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 1999, 21:84-90.
161. Stover EH, Borthwick KJ, Bavalia C, et al. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet 2002, 39:796-803.
162. Ruf R, Rensing C, Topaloglu R, et al. Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. Pediatr Nephrol 2003, 18:105-109.
163. Borthwick KJ, Kandemir N, Topaloglu R, et al. A phenocopy of CAII deficiency: A novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J Med Genet 2003, 40:115-121.
164. Hahn H, Kang HG, Ha IS, et al. ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. Am J Kidney Dis 2003, 41:238-243.
165. +-ATPase B1 subunit mutations that cause inherited distal renal tubular acidosis affect proton pump assembly and trafficking in inner medullary collecting duct cells. J Am Soc Nephrol 2006, 17:1858-1866.
166. Sterkers O, Saumon G, Tran Ba Huy P, et al. Electrochemical heterogeneity of the cochlear endolymph: Effect of acetazolamide. Am J Physiol 1984, 246:F47-F53.
167. + -ATPase have normal hearing. Hear Res 2003, 180:76-84.
168. + ATPase is required for maximal urinary acidification. Proc Natl Acad Sci U S A 2005, 102:13616-13621.
169. +-ATPase) in proton-secreting cells of the kidney and epididymis. Am J Physiol Cell Physiol 2004, 287:C149-C162.
170. Smith AN, Skaug J, Choate KA, et al. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 2000, 26:71-75.
171. Kawasaki-Nishi S, Bowers K, Nishi T, et al. The amino-terminal domain of the vacuolar proton-translocating ATPase a subunit controls targeting and in vivo dissociation, and the carboxyl-terminal domain affects coupling of proton transport and ATP hydrolysis. J Biol Chem 2001, 276:47411-47420.
172. Kawasaki-Nishi S, Nishi T, Forgac M Arg-735 of the 100-kDa subunit a of the yeast V-ATPase is essential for proton translocation. Proc Natl Acad Sci U S A 2001, 98:12397-12402.
173. +-ATPase subunit defective in an inherited form of distal renal tubular acidosis. J Am Soc Nephrol 2003, 14:3027-3038.
174. +-ATPase) C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis. Gene 2002, 297:169-177.
175. Tosukhowong P, Tungsanga K, Eiam-Ong S, Sitprija V Environmental distal renal tubular acidosis in Thailand: An enigma. Am J Kidney Dis 1999, 33:1180-1186.
176. +ATPase) deficiency. Arch Dis Child 2001, 84:504-507.
177. Kim J, Tisher CC, Madsen KM Differentiation of intercalated cells in developing rat kidney: An immunohistochemical study. Am J Physiol 1994, 266:F977-F990.
178. Fejes-Toth G, Naray-Fejes-Toth A Differentiation of renal β-intercalated cells to α-intercalated and principal cells in culture. Proc Natl Acad Sci U S A 1992, 89:5487-5491.
179. Blomqvist SR, Vidarsson H, Fitzgerald S, et al. Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1. J Clin Invest 2004, 113:1560-1570.
180. Kurth I, Hentschke M, Hentschke S, et al. The forkhead transcription factor Foxi1 directly activates the AE4 promoter. Biochem J 2006, 393:277-283.
181. Schuster VL Function and regulation of collecting duct intercalated cells. Annu Rev Physiol 1993, 55:267-288.
182. Boettger T, Hubner CA, Maier H, et al. Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4. Nature 2002, 416:874-878.
183. Everett LA, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997, 17:411-422.
184. Everett LA, Green ED A family of mammalian anion transporters and their involvement in human genetic diseases. Hum Mol Genet 1999, 8:1883-1891.
185. Scott DA, Wang R, Kreman TM, et al. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 1999, 21:440-443.
186. Scott DA, Karniski LP Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange. Am J Physiol Cell Physiol 2000, 278:C207-C211.
187. Royaux IE, Suzuki K, Mori A, et al. Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells. Endocrinology 2000, 141:839-845.
188. Verlander JW, Hassell KA, Royaux IE, et al. Deoxycorticosterone upregulates PDS (Slc26a4) in mouse kidney: role of pendrin in mineralocorticoid-induced hypertension. Hypertension 2003, 42:356-362.
189. Sly WS, Whyte MP, Sundaram V, et al. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med 1985, 313:139-145.
190. Hu PY, Lim EJ, Ciccolella J, et al. Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis. Hum Mutat 1997, 9:383-387.
191. Fathallah DM, Bejaoui M, Lepaslier D, et al. Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: Evidence for founder effect and genomic recombination at the CA II locus. Hum Genet 1997, 99:634-637.
192. Shah GN, Bonapace G, Hu PY, et al. Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. Hum Mutat 2004, 24:272.
193. McMahon C, Will A, Hu P, et al. Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome. Blood 2001, 97:1947-1950.
194. Sly WS, Hu PY Human carbonic anhydrases and carbonic anhydrase deficiencies. Annu Rev Biochem 1995, 64:375-401.
195. Lewis SE, Erickson RP, Barnett LB, et al. N -ethyl- N-nitrosourea-induced null mutation at the mouse Car-2 locus: An animal model for human carbonic anhydrase II deficiency syndrome. Proc Natl Acad Sci U S A 1988, 85:1962-1966.
196. Brechue WF, Kinne-Saffran E, Kinne RK, Maren TH Localization and activity of renal carbonic anhydrase (CA) in CA-II deficient mice. Biochim Biophys Acta 1991, 1066:201-207.
197. Breton S, Alper SL, Gluck SL, et al. Depletion of intercalated cells from collecting ducts of carbonic anhydrase II-deficient (CAR2 null) mice. Am J Physiol 1995, 269:F761-F774.
198. Bagnis C, Marshansky V, Breton S, Brown D Remodeling the cellular profile of collecting ducts by chronic carbonic anhydrase inhibition. Am J Physiol Renal Physiol 2001, 280:F437-F448.
199. Lien YH, Lai LW Respiratory acidosis in carbonic anhydrase II-deficient mice. Am J Physiol 1998, 274:L301-L304.
200. Lai LW, Chan DM, Erickson RP, et al. Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy. J Clin Invest 1998, 101:1320-1325.
201. Lloyd SE, Pearce SH, Fisher SE, et al. A common molecular basis for three inherited kidney stone diseases. Nature 1996, 379:445-449.
202. Lloyd SE, Pearce SH, Gunther W, et al. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). J Clin Invest 1997, 99:967-974.
203. Lloyd SE, Gunther W, Pearce SH, et al. Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. Hum Mol Genet 1997, 6:1233-1239.
204. Scheel O, Zdebik AA, Lourdel S, Jentsch TJ Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins. Nature 2005, 436:424-427.
205. Devuyst O, Jouret F, Auzanneau C, Courtoy PJ Chloride channels and endocytosis: New insights from Dent's disease and ClC-5 knockout mice. Nephron Physiol 2005, 99:69-73.
206. Devuyst O, Christie PT, Courtoy PJ, et al. Intra-renal and subcellular distribution of the human chloride channel, ClC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet 1999, 8:247-257.
207. Wrong OM, Norden AG, Feest TG Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. QJM 1994, 87:473-493.
208. Gunther W, Luchow A, Cluzeaud F, et al. ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc Natl Acad Sci U S A 1998, 95:8075-8080.
209. Luyckx VA, Goda FO, Mount DB, et al. Intrarenal and subcellular localization of rat CLC5. Am J Physiol 1998, 275:F761-F769.
210. +-ATPase. Am J Physiol 1999, 277:F957-F965.
211. +-ATPase without ultrastructural changes in kidneys of Dent's disease patients. Kidney Int 2003, 63:1285-1295.
212. --channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 2000, 408:369-373.
213. Hoopes RR, Shrimpton AE, Knohl SJ, et al. Dent disease with mutations in OCRL1. Am J Hum Genet 2005, 76:260-267.
214. DuBose TD Hyperkalemic hyperchloremic metabolic acidosis: Pathophysiologic insights. Kidney Int 1997, 51:591-602.
215. Geller DS, Rodriguez-Soriano J, Vallo Boado A, et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998, 19:279-281.
216. Sartorato P, Lapeyraque AL, Armanini D, et al. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. J Clin Endocrinol Metab 2003, 88:2508-2517.
217. Zennaro MC, Lombes M Mineralocorticoid resistance. Trends Endocrinol Metab 2004, 15:264-270.
218. Zennaro MC Syndromes of glucocorticoid and mineralocorticoid resistance. Eur J Endocrinol 1998, 139:127-138.
219. Bonny O, Rossier BC Disturbances of Na/K balance: Pseudohypoaldosteronism revisited. J Am Soc Nephrol 2002, 13:2399-2414.
220. O'Shaughnessy KM, Karet FE Salt handling and hypertension. J Clin Invest 2004, 113:1075-1081.
221. Kerem E, Bistritzer T, Hanukoglu A, et al. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med 1999, 341:156-162.
222. Hogg RJ, Marks JF, Marver D, Frolich JC Long-term observations in a patient with pseudohypoaldosteronism. Pediatr Nephrol 1991, 5:205-210.
223. Hanukoglu A, Bistritzer T, Rakover Y, Mandelberg A Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis. J Pediatr 1994, 125:752-755.
224. Chang SS, Grunder S, Hanukoglu A, et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 1996, 12:248-253.
225. Saxena A, Hanukoglu I, Saxena D, et al. Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel α-, β-, and γ-subunit genes. J Clin Endocrinol Metab 2002, 87:3344-3350.
226. Strautnieks SS, Thompson RJ, Gardiner RM, Chung E A novel splice-site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nat Genet 1996, 13:248-250.
227. Huey CL, Riepe FG, Sippell WG, Yu AS Genetic heterogeneity in autosomal dominant pseudohypoaldosteronism type I: Exclusion of claudin-8 as a candidate gene. Am J Nephrol 2004, 24:483-487.
228. Schambelan M, Sebastian A, Rector FC Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): Role of increased renal chloride reabsorption. Kidney Int 1981, 19:716-727.
229. Achard JM, Disse-Nicodeme S, Fiquet-Kempf B, Jeunemaitre X Phenotypic and genetic heterogeneity of familial hyperkalaemic hypertension (Gordon syndrome). Clin Exp Pharmacol Physiol 2001, 28:1048-1052.
230. Gordon RD, Geddes RA, Pawsey CG, O'Halloran MW Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction. Australas Ann Med 1970, 19:287-294.
231. Wilson FH, Disse-Nicodeme S, Choate KA, et al. Human hypertension caused by mutations in WNK kinases. Science 2001, 293:1107-1112.
232. Subramanya AR, Yang CL, McCormick JA, Ellison DH WNK kinases regulate sodium chloride and potassium transport by the aldosterone-sensitive distal nephron. Kidney Int 2006, 70:630-634.
233. Chambrey R, Goossens D, Bourgeois S, et al. Genetic ablation of Rhbg in the mouse does not impair renal ammonium excretion. Am J Physiol Renal Physiol 2005, 289:F1281-F1290.
234. Seshadri RM, Klein JD, Kozlowski S, et al. Renal expression of the ammonia transporters, Rhbg and Rhcg, in response to chronic metabolic acidosis. Am J Physiol Renal Physiol 2006, 290:F397-F408.
235. Beitz E, Liu K, Ikeda M, et al. Determinants of AQP6 trafficking to intracellular sites versus the plasma membrane in transfected mammalian cells. Biol Cell 2006, 98:101-109.
236. Tatishchev S, Abuladze N, Pushkin A, et al. Identification of membrane topography of the electrogenic sodium bicarbonate cotransporter pNBC1 by in vitro transcription/translation. Biochemistry 2003, 42:755-765.
237. Zhu Q, Lee DW, Casey JR Novel topology in C-terminal region of the human plasma membrane anion exchanger, AE1. J Biol Chem 2003, 278:3112-3120.
238. Wood PG The anion exchange proteins: Homology and secondary structure. Prog Cell Res 1992, 2:325-352.
239. Cheidde L, Vieira TC, Lima PR, et al. A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis. Pediatrics 2003, 112:1361-1367.
240. Feldman M, Prikis M, Athanasion Y, et al. Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene. Clin Genet 2006, 69:135-144.
241. Yenchitsomanus PT, Sawasdee N, Paemanee A, et al. Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population. J Hum Genet 2003, 48:451-456.