메뉴 건너뛰기




Volumn 299, Issue 5, 2010, Pages

The pathogenesis of cystinosis: Mechanisms beyond cystine accumulation

Author keywords

Cystine transport; Fanconi syndrome; Glutathione

Indexed keywords

CARRIER PROTEIN; CYSTINE; CYSTINOSIN; MERCAPTAMINE; UNCLASSIFIED DRUG;

EID: 78349266424     PISSN: 1931857X     EISSN: 15221466     Source Type: Journal    
DOI: 10.1152/ajprenal.00318.2010     Document Type: Review
Times cited : (89)

References (148)
  • 2
    • 50649092433 scopus 로고    scopus 로고
    • Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: Report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay
    • Alcantara-Ortigoza MA, Belmont-Martinez L, Vela-Amieva M, Gonzalez-Del A. Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay. Genet Test 12: 409-414, 2008.
    • (2008) Genet Test , vol.12 , pp. 409-414
    • Alcantara-Ortigoza, M.A.1    Belmont-Martinez, L.2    Vela-Amieva, M.3    Gonzalez-Del, A.4
  • 4
    • 0032785837 scopus 로고    scopus 로고
    • CTNS mutations in patients with cystinosis
    • Anikster Y, Shotelersuk V, Gahl WA. CTNS mutations in patients with cystinosis. Hum Mutat 14: 454-458, 1999.
    • (1999) Hum Mutat , vol.14 , pp. 454-458
    • Anikster, Y.1    Shotelersuk, V.2    Gahl, W.A.3
  • 5
    • 0032712587 scopus 로고    scopus 로고
    • Severity of phenotype in cystinosis varies with mutations in the CTNS gene: Predicted effect on the model of cystinosin
    • Attard M, Jean G, Forestier L, Cherqui S, Van't Hoff W, Broyer M, Antignac C, Town M. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. Hum Mol Genet 8: 2507-2514, 1999.
    • (1999) Hum Mol Genet , vol.8 , pp. 2507-2514
    • Attard, M.1    Jean, G.2    Forestier, L.3    Cherqui, S.4    Van't Hoff, W.5    Broyer, M.6    Antignac, C.7    Town, M.8
  • 9
    • 42149085648 scopus 로고    scopus 로고
    • Cell models for studying renal physiology
    • Bens M, Vandewalle A. Cell models for studying renal physiology. Pflügers Arch 457: 1-15, 2008.
    • (2008) Pflügers Arch , vol.457 , pp. 1-15
    • Bens, M.1    Vandewalle, A.2
  • 10
    • 0043133397 scopus 로고    scopus 로고
    • Defective proximal tubular function in a patient with I-cell disease
    • Bocca G, Monnens LA. Defective proximal tubular function in a patient with I-cell disease. Pediatr Nephrol 18: 830-832, 2003.
    • (2003) Pediatr Nephrol , vol.18 , pp. 830-832
    • Bocca, G.1    Monnens, L.A.2
  • 11
    • 33645341211 scopus 로고    scopus 로고
    • An association of tubular dysfunction, cortical macrocysts and chronic kidney disease
    • Bockenhauer D, Rees L, van't Hoff W. An association of tubular dysfunction, cortical macrocysts and chronic kidney disease. Pediatr Nephrol 21: 580-583, 2006.
    • (2006) Pediatr Nephrol , vol.21 , pp. 580-583
    • Bockenhauer, D.1    Rees, L.2    Van't Hoff, W.3
  • 14
    • 41449098980 scopus 로고    scopus 로고
    • Aminoacidurias: Clinical and molecular aspects
    • Camargo SM, Bockenhauer D, Kleta R. Aminoacidurias: clinical and molecular aspects. Kidney Int 73: 918-925, 2008.
    • (2008) Kidney Int , vol.73 , pp. 918-925
    • Camargo, S.M.1    Bockenhauer, D.2    Kleta, R.3
  • 15
    • 34249706461 scopus 로고    scopus 로고
    • Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry
    • Chabli A, Aupetit J, Raehm M, Ricquier D, Chadefaux-Vekemans B. Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry. Clin Biochem 40: 692-698, 2007.
    • (2007) Clin Biochem , vol.40 , pp. 692-698
    • Chabli, A.1    Aupetit, J.2    Raehm, M.3    Ricquier, D.4    Chadefaux-Vekemans, B.5
  • 16
    • 0025876473 scopus 로고
    • Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function
    • Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA. Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. N Engl J Med 324: 1318-1325, 1991.
    • (1991) N Engl J Med , vol.324 , pp. 1318-1325
    • Charnas, L.R.1    Bernardini, I.2    Rader, D.3    Hoeg, J.M.4    Gahl, W.A.5
  • 17
    • 0035918290 scopus 로고    scopus 로고
    • The Targeting of Cystinosin to the Lysosomal Membrane Requires a Tyrosine-based Signal and a Novel Sorting Motif
    • DOI 10.1074/jbc.M010562200
    • Cherqui S, Kalatzis V, Trugnan G, Antignac C. The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif. J Biol Chem 276: 13314-13321, 2001. (Pubitemid 37385263)
    • (2001) Journal of Biological Chemistry , vol.276 , Issue.16 , pp. 13314-13321
    • Cherqui, S.1    Kalatzis, V.2    Trugnan, G.3    Antignac, C.4
  • 19
    • 39049085896 scopus 로고    scopus 로고
    • Generation and evolution of atubular glomeruli in the progression of renal disorders
    • Chevalier RL, Forbes MS. Generation and evolution of atubular glomeruli in the progression of renal disorders. J Am Soc Nephrol 19: 197-206, 2008.
    • (2008) J Am Soc Nephrol , vol.19 , pp. 197-206
    • Chevalier, R.L.1    Forbes, M.S.2
  • 20
    • 4744368742 scopus 로고    scopus 로고
    • Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines
    • Chol M, Nevo N, Cherqui S, Antignac C, Rustin P. Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines. Biochem Biophys Res Commun 324: 231-235, 2004.
    • (2004) Biochem Biophys Res Commun , vol.324 , pp. 231-235
    • Chol, M.1    Nevo, N.2    Cherqui, S.3    Antignac, C.4    Rustin, P.5
  • 22
    • 84984766757 scopus 로고    scopus 로고
    • Megalin and cubilin: Multifunctional endocytic receptors
    • Christensen EI, Birn H. Megalin and cubilin: multifunctional endocytic receptors. Nat Rev Mol Cell Biol 3: 256-266, 2002.
    • (2002) Nat Rev Mol Cell Biol , vol.3 , pp. 256-266
    • Christensen, E.I.1    Birn, H.2
  • 24
    • 0025905226 scopus 로고
    • Role of adenosine-triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading
    • Coor C, Salmon RF, Quigley R, Marver D, Baum M. Role of adenosine-triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading. J Clin Invest 87: 955-961, 1991.
    • (1991) J Clin Invest , vol.87 , pp. 955-961
    • Coor, C.1    Salmon, R.F.2    Quigley, R.3    Marver, D.4    Baum, M.5
  • 27
    • 0022461989 scopus 로고
    • Further studies on the effect of chloroquine on the uptake, metabolism and intracellular translocation of [35S]cystine in cystinotic fibroblasts
    • Danpure CJ, Jennings PR, Fyfe DA. Further studies on the effect of chloroquine on the uptake, metabolism and intracellular translocation of [35S]cystine in cystinotic fibroblasts. Biochim Biophys Acta 885: 256-265, 1986.
    • (1986) Biochim Biophys Acta , vol.885 , pp. 256-265
    • Danpure, C.J.1    Jennings, P.R.2    Fyfe, D.A.3
  • 28
    • 0037485490 scopus 로고
    • Remarks on the relations between renal rickets (renal dwarfism) and renal diabetes
    • De Toni G. Remarks on the relations between renal rickets (renal dwarfism) and renal diabetes. Acta Paediatrica 16: 479-484, 1933.
    • (1933) Acta Paediatrica , vol.16 , pp. 479-484
    • De Toni, G.1
  • 29
    • 0037485489 scopus 로고
    • Rachitisme tardif coexistant avec une nephrite chronique et une glycosurie
    • Debre R, Marie J, Cleret J, Messimy R. Rachitisme tardif coexistant avec une nephrite chronique et une glycosurie. Arch Med Enfants 37: 597-606, 1934.
    • (1934) Arch Med Enfants , vol.37 , pp. 597-606
    • Debre, R.1    Marie, J.2    Cleret, J.3    Messimy, R.4
  • 30
    • 0020684228 scopus 로고
    • In vitro culture of cells exfoliated in the urine by patients with diabetes mellitus
    • Detrisac CJ, Mayfield RK, Colwell JA, Garvin AJ, Sens DA. In vitro culture of cells exfoliated in the urine by patients with diabetes mellitus. J Clin Invest 71: 170-173, 1983.
    • (1983) J Clin Invest , vol.71 , pp. 170-173
    • Detrisac, C.J.1    Mayfield, R.K.2    Colwell, J.A.3    Garvin, A.J.4    Sens, D.A.5
  • 33
    • 0012954799 scopus 로고
    • Die nicht diabetischen glykosurien und hyperglykamiendes altem kindes
    • Fanconi G. Die nicht diabetischen glykosurien und hyperglykamiendes altem kindes. Jahrbuch Kinderheilkunde 133: 257-300, 1931.
    • (1931) Jahrbuch Kinderheilkunde , vol.133 , pp. 257-300
    • Fanconi, G.1
  • 34
    • 77049297365 scopus 로고
    • Die chronische aminoacidurie (aminosaurediabetes oder nephrotisch-glukosurischer zwergwuchs) bei der glykogenose und der cystinkrankheit
    • Fanconi G, Bickel H. Die chronische aminoacidurie (aminosaurediabetes oder nephrotisch-glukosurischer zwergwuchs) bei der glykogenose und der cystinkrankheit. Helv Pediatr Acta 4: 359-396, 1949.
    • (1949) Helv Pediatr Acta , vol.4 , pp. 359-396
    • Fanconi, G.1    Bickel, H.2
  • 36
    • 0037378774 scopus 로고    scopus 로고
    • Basolateral LAT-2 has a major role in the transepithelial flux of L-cystine in the renal proximal tubule cell line OK
    • Fernandez E, Torrents D, Chillaron J, Martin Del RR, Zorzano A, Palacin M. Basolateral LAT-2 has a major role in the transepithelial flux of L-cystine in the renal proximal tubule cell line OK. J Am Soc Nephrol 14: 837-847, 2003.
    • (2003) J Am Soc Nephrol , vol.14 , pp. 837-847
    • Fernandez, E.1    Torrents, D.2    Chillaron, J.3    Martin Del, R.R.4    Zorzano, A.5    Palacin, M.6
  • 38
    • 0023494032 scopus 로고
    • Effect of cystine dimethylester on renal solute handling and isolated renal tubule transport in the rat - A new model of the Fanconi syndrome
    • Foreman JW, Bowring MA, Lee J, States B, Segal S. Effect of cystine dimethylester on renal solute handling and isolated renal tubule transport in the rat - a new model of the Fanconi syndrome. Metabolism 36: 1185-1191, 1987.
    • (1987) Metabolism , vol.36 , pp. 1185-1191
    • Foreman, J.W.1    Bowring, M.A.2    Lee, J.3    States, B.4    Segal, S.5
  • 40
    • 33749540617 scopus 로고    scopus 로고
    • SLCO/OATP-like transport of glutathione in FasL-induced apoptosis: Glutathione efflux is coupled to an organic anion exchange and is necessary for the progression of the execution phase of apoptosis
    • Franco R, Cidlowski JA. SLCO/OATP-like transport of glutathione in FasL-induced apoptosis: glutathione efflux is coupled to an organic anion exchange and is necessary for the progression of the execution phase of apoptosis. J Biol Chem 281: 29542-29557, 2006.
    • (2006) J Biol Chem , vol.281 , pp. 29542-29557
    • Franco, R.1    Cidlowski, J.A.2
  • 41
    • 54049157907 scopus 로고    scopus 로고
    • Lactaturia and loss of sodium-dependent lactate uptake in the colon of SLC5A8-deficient mice
    • Frank H, Groger N, Diener M, Becker C, Braun T, Boettger T. Lactaturia and loss of sodium-dependent lactate uptake in the colon of SLC5A8-deficient mice. J Biol Chem 283: 24729-24737, 2008.
    • (2008) J Biol Chem , vol.283 , pp. 24729-24737
    • Frank, H.1    Groger, N.2    Diener, M.3    Becker, C.4    Braun, T.5    Boettger, T.6
  • 43
    • 34548432080 scopus 로고    scopus 로고
    • Nephropathic cystinosis in adults: Natural history and effects of oral cysteamine therapy
    • Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med 147: 242-250, 2007.
    • (2007) Ann Intern Med , vol.147 , pp. 242-250
    • Gahl, W.A.1    Balog, J.Z.2    Kleta, R.3
  • 44
    • 0019940282 scopus 로고
    • Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis
    • Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science 217: 1263-1265, 1982.
    • (1982) Science , vol.217 , pp. 1263-1265
    • Gahl, W.A.1    Bashan, N.2    Tietze, F.3    Bernardini, I.4    Schulman, J.D.5
  • 45
    • 0000966393 scopus 로고    scopus 로고
    • Cystinosis: A disorder of lysosomal membrane transport
    • edited by Scriver CR, Beaudet AL, Sly WS, and Valle D. New York: McGraw-Hill
    • Gahl WA, Thoene JG, Schneider JA. Cystinosis: a disorder of lysosomal membrane transport. In: The Metabolic and Molecular Bases of Inherited Disease, edited by Scriver CR, Beaudet AL, Sly WS, and Valle D. New York: McGraw-Hill, 2001, p. 5085-6108.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 5085-6108
    • Gahl, W.A.1    Thoene, J.G.2    Schneider, J.A.3
  • 47
    • 0020420396 scopus 로고
    • Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes
    • Gahl WA, Tietze F, Bashan N, Steinherz R, Schulman JD. Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes. J Biol Chem 257: 9570-9575, 1982.
    • (1982) J Biol Chem , vol.257 , pp. 9570-9575
    • Gahl, W.A.1    Tietze, F.2    Bashan, N.3    Steinherz, R.4    Schulman, J.D.5
  • 48
    • 0022257608 scopus 로고
    • Cysteamine depletes cystinotic leucocyte granular fractions of cystine by the mechanism of disulphide interchange
    • Gahl WA, Tietze F, Butler JD, Schulman JD. Cysteamine depletes cystinotic leucocyte granular fractions of cystine by the mechanism of disulphide interchange. Biochem J 228: 545-550, 1985.
    • (1985) Biochem J , vol.228 , pp. 545-550
    • Gahl, W.A.1    Tietze, F.2    Butler, J.D.3    Schulman, J.D.4
  • 50
    • 0014953759 scopus 로고
    • Use of dithiothreitol to correct cystine storage in cultured cystinotic fibroblasts
    • Goldman H, Scriver CR, Aaron K, Pinsky L. Use of dithiothreitol to correct cystine storage in cultured cystinotic fibroblasts. Lancet 1: 811-812, 1970.
    • (1970) Lancet , vol.1 , pp. 811-812
    • Goldman, H.1    Scriver, C.R.2    Aaron, K.3    Pinsky, L.4
  • 51
    • 0015874481 scopus 로고
    • Rupture of rat-liver lysosomes mediated by L-amino-acid esters
    • Goldman R, Kaplan A. Rupture of rat-liver lysosomes mediated by L-amino-acid esters. Biochim Biophys Acta 318: 205-216, 1973.
    • (1973) Biochim Biophys Acta , vol.318 , pp. 205-216
    • Goldman, R.1    Kaplan, A.2
  • 52
    • 0032709292 scopus 로고    scopus 로고
    • New method for determining cystine in leukocytes and fibroblasts
    • Graaf-Hess A, Trijbels F, Blom H. New method for determining cystine in leukocytes and fibroblasts. Clin Chem 45: 2224-2228, 1999.
    • (1999) Clin Chem , vol.45 , pp. 2224-2228
    • Graaf-Hess, A.1    Trijbels, F.2    Blom, H.3
  • 53
    • 0010765599 scopus 로고    scopus 로고
    • The pathology of the kidney in cystinosis
    • edited by Broyer M. Paris: Elsevier
    • Gubler M, Lacoste M, Sich M, Broyer M. The pathology of the kidney in cystinosis. In: Cystinosis, edited by Broyer M. Paris: Elsevier, 1999, p. 42-48.
    • (1999) Cystinosis , pp. 42-48
    • Gubler, M.1    Lacoste, M.2    Sich, M.3    Broyer, M.4
  • 54
    • 33845808854 scopus 로고    scopus 로고
    • The not so 'mighty chondrion': Emergence of renal diseases due to mitochondrial dysfunction
    • Hall AM, Unwin RJ. The not so 'mighty chondrion': emergence of renal diseases due to mitochondrial dysfunction. Nephron Physiol 105: 1-10, 2007.
    • (2007) Nephron Physiol , vol.105 , pp. 1-10
    • Hall, A.M.1    Unwin, R.J.2
  • 55
    • 0021721414 scopus 로고
    • Tissue culture of epithelial cells from urine. I. Serum-free growth of cells from newborn infants
    • Hintz DS, Sens MA, Jenkins MQ, Sens DA. Tissue culture of epithelial cells from urine. I. Serum-free growth of cells from newborn infants. Pediatr Pathol 2: 153-163, 1984.
    • (1984) Pediatr Pathol , vol.2 , pp. 153-163
    • Hintz, D.S.1    Sens, M.A.2    Jenkins, M.Q.3    Sens, D.A.4
  • 57
    • 0028220472 scopus 로고
    • Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease
    • Hollak CE, van WS, van Oers MH, Aerts JM. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 93: 1288-1292, 1994.
    • (1994) J Clin Invest , vol.93 , pp. 1288-1292
    • Hollak, C.E.1    Van, W.S.2    Van Oers, M.H.3    Aerts, J.M.4
  • 59
    • 0001374640 scopus 로고
    • The Fanconi syndrome with cystinossis. Electron microscopy of renal biopsy specimens from five patients
    • Jackson JD, Smith F, Litman N, Yuile C, Latta H. The Fanconi syndrome with cystinossis. Electron microscopy of renal biopsy specimens from five patients. Am J Med 33: 893-910, 1962.
    • (1962) Am J Med , vol.33 , pp. 893-910
    • Jackson, J.D.1    Smith, F.2    Litman, N.3    Yuile, C.4    Latta, H.5
  • 61
    • 0020353717 scopus 로고
    • ATP-dependent lysosomal cystine efflux is defective in cystinosis
    • Jonas AJ, Smith ML, Schneider JA. ATP-dependent lysosomal cystine efflux is defective in cystinosis. J Biol Chem 257: 3185-3188, 1982.
    • (1982) J Biol Chem , vol.257 , pp. 3185-3188
    • Jonas, A.J.1    Smith, M.L.2    Schneider, J.A.3
  • 63
    • 3242722276 scopus 로고    scopus 로고
    • Molecular pathogenesis of cystinosis: Effect of CTNS mutations on the transport activity and subcellular localization of cystinosin
    • Kalatzis V, Nevo N, Cherqui S, Antignac C. Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. Hum Mol Genet 13: 1361-1371, 2004.
    • (2004) Hum Mol Genet , vol.13 , pp. 1361-1371
    • Kalatzis, V.1    Nevo, N.2    Cherqui, S.3    Antignac, C.4
  • 67
    • 0000820864 scopus 로고
    • I-cell disease and pseudo-Hurler polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization
    • edited by Scriver CR, Beaudet AL, Sly WS, and Valle D. New York: McGraw-Hill
    • Kornfeld S, Sly WS. I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In: The Metabolic and Molecular Bases of Inherited Disease, edited by Scriver CR, Beaudet AL, Sly WS, and Valle D. New York: McGraw-Hill, 1995, p. 2495-2508.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 2495-2508
    • Kornfeld, S.1    Sly, W.S.2
  • 68
    • 68449100239 scopus 로고    scopus 로고
    • Diabetic albuminuria is due to a small fraction of nephrons distinguished by albumin-stained tubules and glomerular adhesions
    • Kralik PM, Long Y, Song Y, Yang L, Wei H, Coventry S, Zheng S, Epstein PN. Diabetic albuminuria is due to a small fraction of nephrons distinguished by albumin-stained tubules and glomerular adhesions. Am J Pathol 175: 500-509, 2009.
    • (2009) Am J Pathol , vol.175 , pp. 500-509
    • Kralik, P.M.1    Long, Y.2    Song, Y.3    Yang, L.4    Wei, H.5    Coventry, S.6    Zheng, S.7    Epstein, P.N.8
  • 69
    • 0016282808 scopus 로고
    • Decrease in free cystine content of cultured cystinotic fibroblasts by ascorbic acid
    • Kroll WA, Schneider JA. Decrease in free cystine content of cultured cystinotic fibroblasts by ascorbic acid. Science 186: 1040-1042, 1974.
    • (1974) Science , vol.186 , pp. 1040-1042
    • Kroll, W.A.1    Schneider, J.A.2
  • 70
    • 17444419341 scopus 로고    scopus 로고
    • Role of glutathione transport processes in kidney function
    • Lash LH. Role of glutathione transport processes in kidney function. Toxicol Appl Pharmacol 204: 329-342, 2005.
    • (2005) Toxicol Appl Pharmacol , vol.204 , pp. 329-342
    • Lash, L.H.1
  • 74
    • 0035989758 scopus 로고    scopus 로고
    • Negligible urinary cysteamine loss in cystinosis patients with Fanconi syndrome
    • Levtchenko EN, Graaf-Hess A, Blom HJ, Monnens LA. Negligible urinary cysteamine loss in cystinosis patients with Fanconi syndrome. Clin Nephrol 57: 349-351, 2002.
    • (2002) Clin Nephrol , vol.57 , pp. 349-351
    • Levtchenko, E.N.1    Graaf-Hess, A.2    Blom, H.J.3    Monnens, L.A.4
  • 75
    • 78349282774 scopus 로고    scopus 로고
    • Cysteamine treatment in cystinotic proximal tubular cells increases intracellular glutathione without restoring decreased ATP levels
    • Abstract
    • Levtchenko EN, Wilmer MJ, Kluijtmans LA, Monnens LA, van den Heuvel LP. Cysteamine treatment in cystinotic proximal tubular cells increases intracellular glutathione without restoring decreased ATP levels (Abstract). J Am Soc Nephrol 20: 283A, 2009.
    • (2009) J Am Soc Nephrol , vol.20
    • Levtchenko, E.N.1    Wilmer, M.J.2    Kluijtmans, L.A.3    Monnens, L.A.4    Van Den Heuvel, L.P.5
  • 77
    • 0005770709 scopus 로고
    • Ueber Storung des Cystinstoffwechsels bei Kindern
    • Lignac GOE. Ueber Storung des Cystinstoffwechsels bei Kindern. Deut Arch Klin Med 145: 139-150, 1924.
    • (1924) Deut Arch Klin Med , vol.145 , pp. 139-150
    • Lignac, G.O.E.1
  • 79
    • 0033675572 scopus 로고    scopus 로고
    • Early development of the renal lesions in infantile cystinosis
    • Mahoney CP, Striker GE. Early development of the renal lesions in infantile cystinosis. Pediatr Nephrol 15: 50-56, 2000.
    • (2000) Pediatr Nephrol , vol.15 , pp. 50-56
    • Mahoney, C.P.1    Striker, G.E.2
  • 80
    • 33646680566 scopus 로고    scopus 로고
    • Impaired activity of the gamma-glutamyl cycle in nephropathic cystinosis fibroblasts
    • Mannucci L, Pastore A, Rizzo C, Piemonte F, Rizzoni G, Emma F. Impaired activity of the gamma-glutamyl cycle in nephropathic cystinosis fibroblasts. Pediatr Res 59: 332-335, 2006.
    • (2006) Pediatr Res , vol.59 , pp. 332-335
    • Mannucci, L.1    Pastore, A.2    Rizzo, C.3    Piemonte, F.4    Rizzoni, G.5    Emma, F.6
  • 81
    • 0029154678 scopus 로고
    • Regulation of opossum kidney (OK) cell Na/Pi cotransport by Pi deprivation involves mRNA stability
    • Markovich D, Verri T, Sorribas V, Forgo J, Biber J, Murer H. Regulation of opossum kidney (OK) cell Na/Pi cotransport by Pi deprivation involves mRNA stability. Pflügers Arch 430: 459-463, 1995.
    • (1995) Pflügers Arch , vol.430 , pp. 459-463
    • Markovich, D.1    Verri, T.2    Sorribas, V.3    Forgo, J.4    Biber, J.5    Murer, H.6
  • 84
    • 58549107379 scopus 로고    scopus 로고
    • Evaluation of the proximal tubular function in hereditary renal Fanconi syndrome
    • Monnens L, Levtchenko E. Evaluation of the proximal tubular function in hereditary renal Fanconi syndrome. Nephrol Dial Transplant 23: 2719-2722, 2008.
    • (2008) Nephrol Dial Transplant , vol.23 , pp. 2719-2722
    • Monnens, L.1    Levtchenko, E.2
  • 88
    • 84898653292 scopus 로고    scopus 로고
    • Cystinosis
    • edited by Pagon RA, Bird TC, Dolan CR, and Stephens K. Seattle, WA: Univ. of Washington
    • Nesterova G, Gahl WA. Cystinosis. In: GeneReviews, edited by Pagon RA, Bird TC, Dolan CR, and Stephens K. Seattle, WA: Univ. of Washington, 2010, p. 1993-2001.
    • (2010) GeneReviews , pp. 1993-2001
    • Nesterova, G.1    Gahl, W.A.2
  • 90
    • 0031894922 scopus 로고    scopus 로고
    • Mitochondrial disorders and the kidney
    • Niaudet P. Mitochondrial disorders and the kidney. Arch Dis Child 78: 387-390, 1998.
    • (1998) Arch Dis Child , vol.78 , pp. 387-390
    • Niaudet, P.1
  • 92
    • 33846807748 scopus 로고    scopus 로고
    • Transient receptor potential cation channels in disease
    • Nilius B, Owsianik G, Voets T, Peters JA. Transient receptor potential cation channels in disease. Physiol Rev 87: 165-217, 2007.
    • (2007) Physiol Rev , vol.87 , pp. 165-217
    • Nilius, B.1    Owsianik, G.2    Voets, T.3    Peters, J.A.4
  • 93
    • 14844283016 scopus 로고    scopus 로고
    • Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency
    • Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S. Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. Hum Genet 116: 384-389, 2005.
    • (2005) Hum Genet , vol.116 , pp. 384-389
    • Njalsson, R.1    Ristoff, E.2    Carlsson, K.3    Winkler, A.4    Larsson, A.5    Norgren, S.6
  • 95
    • 70350635675 scopus 로고    scopus 로고
    • Tipping the redox balance of oxidative stress in fibrogenic pathways in chronic kidney disease
    • Okamura DM, Himmelfarb J. Tipping the redox balance of oxidative stress in fibrogenic pathways in chronic kidney disease. Pediatr Nephrol 24: 2309-2319, 2009.
    • (2009) Pediatr Nephrol , vol.24 , pp. 2309-2319
    • Okamura, D.M.1    Himmelfarb, J.2
  • 96
    • 0036891796 scopus 로고    scopus 로고
    • Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells
    • Park M, Helip-Wooley A, Thoene J. Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells. J Am Soc Nephrol 13: 2878-2887, 2002.
    • (2002) J Am Soc Nephrol , vol.13 , pp. 2878-2887
    • Park, M.1    Helip-Wooley, A.2    Thoene, J.3
  • 97
    • 33750681991 scopus 로고    scopus 로고
    • Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cdelta
    • Park MA, Pejovic V, Kerisit KG, Junius S, Thoene JG. Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cdelta. J Am Soc Nephrol 17: 3167-3175, 2006.
    • (2006) J Am Soc Nephrol , vol.17 , pp. 3167-3175
    • Park, M.A.1    Pejovic, V.2    Kerisit, K.G.3    Junius, S.4    Thoene, J.G.5
  • 98
    • 0014329132 scopus 로고
    • Cystinosis: Electron microscopic evidence of lysosomal storage of cystine in lymph node
    • Patrick AD, Lake BD. Cystinosis: electron microscopic evidence of lysosomal storage of cystine in lymph node. J Clin Pathol 21: 571-575, 1968.
    • (1968) J Clin Pathol , vol.21 , pp. 571-575
    • Patrick, A.D.1    Lake, B.D.2
  • 100
    • 73449139052 scopus 로고    scopus 로고
    • The vanilloid receptor TRPV1: Role in cardiovascular and gastrointestinal protection
    • Peng J, Li YJ. The vanilloid receptor TRPV1: role in cardiovascular and gastrointestinal protection. Eur J Pharmacol 627: 1-7, 2010.
    • (2010) Eur J Pharmacol , vol.627 , pp. 1-7
    • Peng, J.1    Li, Y.J.2
  • 102
    • 0034835289 scopus 로고    scopus 로고
    • The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, carkl, and causes cystinosis if mutated in a critical region
    • Phornphutkul C, Anikster Y, Huizing M, Braun P, Brodie C, Chou JY, Gahl WA. The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, carkl, and causes cystinosis if mutated in a critical region. Am J Hum Genet 69: 712-721, 2001.
    • (2001) Am J Hum Genet , vol.69 , pp. 712-721
    • Phornphutkul, C.1    Anikster, Y.2    Huizing, M.3    Braun, P.4    Brodie, C.5    Chou, J.Y.6    Gahl, W.A.7
  • 103
    • 0023230461 scopus 로고
    • Important differences in cationic amino acid transport by lysosomal system c and system y+ of the human fibroblast
    • Pisoni RL, Thoene JG, Lemons RM, Christensen HN. Important differences in cationic amino acid transport by lysosomal system c and system y+ of the human fibroblast. J Biol Chem 262: 15011-15018, 1987.
    • (1987) J Biol Chem , vol.262 , pp. 15011-15018
    • Pisoni, R.L.1    Thoene, J.G.2    Lemons, R.M.3    Christensen, H.N.4
  • 106
    • 0026110984 scopus 로고
    • Culture of renal tubular cells from the urine of patients with nephropathic cystinosis
    • Racusen LC, Fivush BA, Andersson H, Gahl WA. Culture of renal tubular cells from the urine of patients with nephropathic cystinosis. J Am Soc Nephrol 1: 1028-1033, 1991.
    • (1991) J Am Soc Nephrol , vol.1 , pp. 1028-1033
    • Racusen, L.C.1    Fivush, B.A.2    Andersson, H.3    Gahl, W.A.4
  • 107
    • 0029122255 scopus 로고
    • Renal proximal tubular epithelium from patients with nephropathic cystinosis - Immortalized cell lines as in vitro model systems
    • Racusen LC, Wilson PD, Hartz PA, Fivush BA, Burrow CR, Philip ET. Renal proximal tubular epithelium from patients with nephropathic cystinosis - immortalized cell lines as in vitro model systems. Kidney Int 48: 536-543, 1995.
    • (1995) Kidney Int , vol.48 , pp. 536-543
    • Racusen, L.C.1    Wilson, P.D.2    Hartz, P.A.3    Fivush, B.A.4    Burrow, C.R.5    Philip, E.T.6
  • 108
    • 0018722585 scopus 로고
    • Accumulation of amino acids by lysosomes incubated with amino acid methyl esters
    • Reeves JP. Accumulation of amino acids by lysosomes incubated with amino acid methyl esters. J Biol Chem 254: 8914-8921, 1979.
    • (1979) J Biol Chem , vol.254 , pp. 8914-8921
    • Reeves, J.P.1
  • 109
    • 34247868881 scopus 로고    scopus 로고
    • Inborn errors in the metabolism of glutathione
    • Ristoff E, Larsson A. Inborn errors in the metabolism of glutathione. Orphanet J Rare Dis 2: 16, 2007.
    • (2007) Orphanet J Rare Dis , vol.2 , pp. 16
    • Ristoff, E.1    Larsson, A.2
  • 112
    • 69249227502 scopus 로고    scopus 로고
    • Lysosome biogenesis and lysosomal membrane proteins: Trafficking meets function
    • Saftig P, Klumperman J. Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function. Nat Rev Mol Cell Biol 10: 623-635, 2009.
    • (2009) Nat Rev Mol Cell Biol , vol.10 , pp. 623-635
    • Saftig, P.1    Klumperman, J.2
  • 113
    • 0025117493 scopus 로고
    • Intracellular cystine loading inhibits transport in the rabbit proximal convoluted tubule
    • Salmon RF, Baum M. Intracellular cystine loading inhibits transport in the rabbit proximal convoluted tubule. J Clin Invest 85: 340-344, 1990.
    • (1990) J Clin Invest , vol.85 , pp. 340-344
    • Salmon, R.F.1    Baum, M.2
  • 114
    • 77950601200 scopus 로고    scopus 로고
    • Caspase-4 may play a role in loss of proximal tubules and renal injury in nephropathic cystinosis
    • ePub
    • Sansanwal P, Kambham N, Sarwal MM. Caspase-4 may play a role in loss of proximal tubules and renal injury in nephropathic cystinosis. Pediatr Nephrol 2009, ePub.
    • (2009) Pediatr Nephrol
    • Sansanwal, P.1    Kambham, N.2    Sarwal, M.M.3
  • 117
    • 2942691984 scopus 로고    scopus 로고
    • Examination of megalin in renal tubular epithelium from patients with Dent disease
    • DOI 10.1007/s00467-004-1445-9
    • Santo Y, Hirai H, Shima M, Yamagata M, Michigami T, Nakajima S, Ozono K. Examination of megalin in renal tubular epithelium from patients with Dent disease. Pediatr Nephrol 19: 612-615, 2004. (Pubitemid 38771730)
    • (2004) Pediatric Nephrology , vol.19 , Issue.6 , pp. 612-615
    • Santo, Y.1    Hirai, H.2    Shima, M.3    Yamagata, M.4    Michigami, T.5    Nakajima, S.6    Ozono, K.7
  • 118
    • 0014206247 scopus 로고
    • Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis
    • Schneider JA, Bradley K, Seegmiller JE. Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis. Science 157: 1321-1322, 1967.
    • (1967) Science , vol.157 , pp. 1321-1322
    • Schneider, J.A.1    Bradley, K.2    Seegmiller, J.E.3
  • 120
    • 0014694345 scopus 로고
    • Cystine: Compartmentalization within lysosomes in cystinotic leukocytes
    • Schulman JD, Bradley KH, Seegmiller JE. Cystine: compartmentalization within lysosomes in cystinotic leukocytes. Science 166: 1152-1154, 1969.
    • (1969) Science , vol.166 , pp. 1152-1154
    • Schulman, J.D.1    Bradley, K.H.2    Seegmiller, J.E.3
  • 124
    • 0015520142 scopus 로고
    • Culture of cells from the urine of newborn children
    • Sutherland GR, Bain AD. Culture of cells from the urine of newborn children. Nature 239: 231, 1972.
    • (1972) Nature , vol.239 , pp. 231
    • Sutherland, G.R.1    Bain, A.D.2
  • 128
    • 0029319869 scopus 로고
    • Linkage of the gene for cystinosis to markers on the short arm of chromosome 17
    • The Cystinosis Collaborative Research Group
    • The Cystinosis Collaborative Research Group. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. Nat Genet 10: 246-248, 1995.
    • (1995) Nat Genet , vol.10 , pp. 246-248
  • 129
    • 0018849769 scopus 로고
    • Modulation of the intracellular cystine content of cystinotic fibroblasts by extracellular albumin
    • Thoene JG, Lemons R. Modulation of the intracellular cystine content of cystinotic fibroblasts by extracellular albumin. Pediatr Res 14: 785-787, 1980.
    • (1980) Pediatr Res , vol.14 , pp. 785-787
    • Thoene, J.G.1    Lemons, R.2
  • 130
    • 0020284489 scopus 로고
    • Cystine accumulation in cystinotic fibroblasts from free and protein-linked cystine but not cysteine
    • Thoene JG, Lemons RM. Cystine accumulation in cystinotic fibroblasts from free and protein-linked cystine but not cysteine. Biochem J 208: 823-830, 1982.
    • (1982) Biochem J , vol.208 , pp. 823-830
    • Thoene, J.G.1    Lemons, R.M.2
  • 132
    • 0018574224 scopus 로고
    • Elevated cystine levels in cultured skin fibroblasts from patients with I-cell disease
    • Tietze F, Butler JD. Elevated cystine levels in cultured skin fibroblasts from patients with I-cell disease. Pediatr Res 13: 1350-1355, 1979.
    • (1979) Pediatr Res , vol.13 , pp. 1350-1355
    • Tietze, F.1    Butler, J.D.2
  • 133
  • 136
    • 0017665294 scopus 로고
    • Hereditary mitochondrial myopathy with lactic acidemia, a de Toni-Fanconi-Debre syndrome, and a defective respiratory chain in voluntary striated muscles
    • Van Biervliet JP, Bruinvis L, Ketting D, De Bree PK, Van der HC, Wadman SK. Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debre syndrome, and a defective respiratory chain in voluntary striated muscles. Pediatr Res 11: 1088-1093, 1977.
    • (1977) Pediatr Res , vol.11 , pp. 1088-1093
    • Van Biervliet, J.P.1    Bruinvis, L.2    Ketting, D.3    De Bree, P.K.4    Van Der, H.C.5    Wadman, S.K.6
  • 138
    • 42049085325 scopus 로고    scopus 로고
    • Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: Elucidation of the CARKL gene
    • DOI 10.1002/humu.20685
    • Wamelink MM, Struys EA, Jansen EE, Levtchenko EN, Zijlstra FS, Engelke U, Blom HJ, Jakobs C, Wevers RA. Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. Hum Mutat 29: 532-536, 2008. (Pubitemid 351536992)
    • (2008) Human Mutation , vol.29 , Issue.4 , pp. 532-536
    • Wamelink, M.M.C.1    Struys, E.A.2    Jansen, E.E.W.3    Levtchenko, E.N.4    Zijlstra, F.S.M.5    Engelke, U.6    Blom, H.J.7    Jakobs, C.8    Wevers, R.A.9
  • 139
    • 49849087847 scopus 로고    scopus 로고
    • Deletion of transient receptor potential vanilloid type 1 receptors exaggerates renal damage in deoxycorticosterone acetate-salt hypertension
    • Wang Y, Babankova D, Huang J, Swain GM, Wang DH. Deletion of transient receptor potential vanilloid type 1 receptors exaggerates renal damage in deoxycorticosterone acetate-salt hypertension. Hypertension 52: 264-270, 2008.
    • (2008) Hypertension , vol.52 , pp. 264-270
    • Wang, Y.1    Babankova, D.2    Huang, J.3    Swain, G.M.4    Wang, D.H.5
  • 140
    • 0032991086 scopus 로고    scopus 로고
    • Induction of monocyte chemoattractant protein-1 by albumin is mediated by nuclear factor kappaB in proximal tubule cells
    • Wang Y, Rangan GK, Tay YC, Wang Y, Harris DC. Induction of monocyte chemoattractant protein-1 by albumin is mediated by nuclear factor kappaB in proximal tubule cells. J Am Soc Nephrol 10: 1204-1213, 1999.
    • (1999) J Am Soc Nephrol , vol.10 , pp. 1204-1213
    • Wang, Y.1    Rangan, G.K.2    Tay, Y.C.3    Wang, Y.4    Harris, D.C.5
  • 147
    • 0034851108 scopus 로고    scopus 로고
    • Regulation of endothelin-1 and transforming growth factor-beta1 production in cultured proximal tubular cells by albumin and heparan sulphate glycosaminoglycans
    • Yard BA, Chorianopoulos E, Herr D, van der Woude FJ. Regulation of endothelin-1 and transforming growth factor-beta1 production in cultured proximal tubular cells by albumin and heparan sulphate glycosaminoglycans. Nephrol Dial Transplant 16: 1769-1775, 2001.
    • (2001) Nephrol Dial Transplant , vol.16 , pp. 1769-1775
    • Yard, B.A.1    Chorianopoulos, E.2    Herr, D.3    Van Der Woude, F.J.4
  • 148
    • 0031749820 scopus 로고    scopus 로고
    • Protein overload stimulates RANTES production by proximal tubular cells depending on NF-kappa B activation
    • Zoja C, Donadelli R, Colleoni S, Figliuzzi M, Bonazzola S, Morigi M, Remuzzi G. Protein overload stimulates RANTES production by proximal tubular cells depending on NF-kappa B activation. Kidney Int 53: 1608-1615, 1998.
    • (1998) Kidney Int , vol.53 , pp. 1608-1615
    • Zoja, C.1    Donadelli, R.2    Colleoni, S.3    Figliuzzi, M.4    Bonazzola, S.5    Morigi, M.6    Remuzzi, G.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.