메뉴 건너뛰기




Volumn 8, Issue 1, 2010, Pages 25-31

Molecular approach for distal renal tubular acidosis associated AE1 mutations

Author keywords

Acidosis; Anion exchange protein 1; Chloride bicarbonate antiporters; Compound heterozygosity; Erythrocyte; Renal tubular; Southeast Asian ovalocytosis; Trafficking defect; Urine blood PCO2

Indexed keywords

AMMONIUM CHLORIDE; BICARBONATE; MUTANT PROTEIN;

EID: 77955348913     PISSN: 17385997     EISSN: None     Source Type: Journal    
DOI: 10.5049/EBP.2010.8.1.25     Document Type: Review
Times cited : (3)

References (30)
  • 1
    • 0032943534 scopus 로고    scopus 로고
    • +-ATPase cause renal tubular acidosis with sensorineural deafness
    • +-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 21:84-90, 1999
    • (1999) Nat Genet , vol.21 , pp. 84-90
    • Karet, F.E.1    Finberg, K.E.2    Nelson, R.D.3
  • 2
    • 0025274931 scopus 로고
    • Endemic primary distal renal tubular acidosis in Thailand
    • Nilwarangkur S, Nimmannit S, Chaovakul V, et al.: Endemic primary distal renal tubular acidosis in Thailand. QJ Med 74:289-301, 1990
    • (1990) QJ Med , vol.74 , pp. 289-301
    • Nilwarangkur, S.1    Nimmannit, S.2    Chaovakul, V.3
  • 11
    • 0030923557 scopus 로고    scopus 로고
    • Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene
    • 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 100:1693-1707, 1997
    • (1997) J Clin Invest , vol.100 , pp. 1693-1707
    • Bruce, L.J.1    Cope, D.L.2    Jones, G.K.3
  • 13
    • 34447536642 scopus 로고    scopus 로고
    • Inherited renal acidoses
    • (Bethesda)
    • Fry AC, Karet FE: Inherited renal acidoses. Physiology (Bethesda) 22:202-211, 2007
    • (2007) Physiology , vol.22 , pp. 202-211
    • Fry, A.C.1    Karet, F.E.2
  • 15
    • 0031031434 scopus 로고    scopus 로고
    • A new classification for renal defects in net acid excretion
    • Kamel KS, Briceno LF, Sanchez MI, et al.: A new classification for renal defects in net acid excretion. Am J Kidney Dis 29:136-146, 1997
    • (1997) Am J Kidney Dis , vol.29 , pp. 136-146
    • Kamel, K.S.1    Briceno, L.F.2    Sanchez, M.I.3
  • 16
    • 0021912083 scopus 로고
    • Validation of the difference in urine and blood carbon dioxide tension during bicarbonate loading as an index of distal nephron acidification in experimental models of distal renal tubular acidosis
    • DuBose TD, Jr., Caflisch CR: Validation of the difference in urine and blood carbon dioxide tension during bicarbonate loading as an index of distal nephron acidification in experimental models of distal renal tubular acidosis. J Clin Invest 75:1116-1123, 1985
    • (1985) J Clin Invest , vol.75 , pp. 1116-1123
    • DuBose Jr., T.D.1    Caflisch, C.R.2
  • 17
    • 0015964333 scopus 로고
    • Studies on the pathogenesis of type I (distal) renal tubular acidosis as revealed by the urinary PCO2 tensions
    • Halperin ML, Goldstein MB, Haig A, Johnson MD, Stinebaugh BJ: Studies on the pathogenesis of type I (distal) renal tubular acidosis as revealed by the urinary PCO2 tensions. J Clin Invest 53:669-677, 1974
    • (1974) J Clin Invest , vol.53 , pp. 669-677
    • Halperin, M.L.1    Goldstein, M.B.2    Haig, A.3    Johnson, M.D.4    Stinebaugh, B.J.5
  • 18
    • 0030766722 scopus 로고    scopus 로고
    • Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene
    • Rysava R, Tesar V, Jirsa M, Jr., Brabec V, Jarolim P: Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene. Nephrol Dial Transplant 12:1869-1873, 1997
    • (1997) Nephrol Dial Transplant , vol.12 , pp. 1869-1873
    • Rysava, R.1    Tesar, V.2    Jirsa Jr., M.3    Brabec, V.4    Jarolim, P.5
  • 20
    • 0026354679 scopus 로고
    • Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis
    • Jarolim P, Palek J, Amato D, et al.: Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. Proc Natl Acad Sci U S A 88:11022-11026, 1991
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 11022-11026
    • Jarolim, P.1    Palek, J.2    Amato, D.3
  • 21
    • 0025258861 scopus 로고
    • Molecular defect of the band 3 protein in southeast Asian ovalocytosis
    • Liu SC, Zhai S, Palek J, et al.: Molecular defect of the band 3 protein in southeast Asian ovalocytosis. N Engl J Med 323:1530-1538, 1990
    • (1990) N Engl J Med , vol.323 , pp. 1530-1538
    • Liu, S.C.1    Zhai, S.2    Palek, J.3
  • 23
    • 33644816650 scopus 로고    scopus 로고
    • Molecular physiology of SLC4 anion exchangers
    • Alper SL: Molecular physiology of SLC4 anion exchangers. Exp Physiol 91:153-161, 2006
    • (2006) Exp Physiol , vol.91 , pp. 153-161
    • Alper, S.L.1
  • 25
    • 4644272165 scopus 로고    scopus 로고
    • Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1)
    • DOI 10.1074/jbc.M405356200
    • Kittanakom S, Cordat E, Akkarapatumwong V, Yenchitsomanus PT, Reithmeier RA: Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1). J Biol Chem 279:40960-40971, 2004 (Pubitemid 39287696)
    • (2004) Journal of Biological Chemistry , vol.279 , Issue.39 , pp. 40960-40971
    • Kittanakom, S.1    Cordat, E.2    Akkarapatumwong, V.3    Yenchitsomanus, P.-T.4    Reithmeier, R.A.F.5
  • 26
    • 0036086387 scopus 로고    scopus 로고
    • Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAEl
    • Quilty JA, Li J, Reithmeier RA: Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAEl. Am J Physiol Renal Physiol 282:F810-820, 2002
    • (2002) Am J Physiol Renal Physiol , vol.282
    • Quilty, J.A.1    Li, J.2    Reithmeier, R.A.3
  • 27
    • 33645116425 scopus 로고    scopus 로고
    • Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells
    • 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 7:117-128, 2006
    • (2006) Traffic , vol.7 , pp. 117-128
    • Cordat, E.1    Kittanakom, S.2    Yenchitsomanus, P.T.3
  • 28
    • 40449104048 scopus 로고    scopus 로고
    • Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis
    • DOI 10.1042/BJ20070615
    • Kittanakom S, Cordat E, Reithmeier RA: Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis. Biochem J 410:271-281, 2008 (Pubitemid 351346185)
    • (2008) Biochemical Journal , vol.410 , Issue.2 , pp. 271-281
    • Kittanakom, S.1    Cordat, E.2    Reithmeier, R.A.F.3
  • 30
    • 0037317252 scopus 로고    scopus 로고
    • Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis
    • DOI 10.1038/ng1082
    • Devonald MA, Smith AN, Poon JP, Ihrke G, Karet FE: Nonpolarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis. Nat Genet 33:125-127, 2003 (Pubitemid 36177062)
    • (2003) Nature Genetics , vol.33 , Issue.2 , pp. 125-127
    • Devonald, M.A.J.1    Smith, A.N.2    Poon, J.P.3    Ihrke, G.4    Karet, F.E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.