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Volumn 370, Issue 2, 2014, Pages 129-138

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome

(39)  Klootwijk, Enriko D a   Reichold, Markus d   Helip Wooley, Amanda f   Tolaymat, Asad h   Broeker, Carsten d   Robinette, Steven L c,f   Reinders, Joerg d   Peindl, Dominika d   Renner, Kathrin d   Eberhart, Karin d   Assmann, Nadine d   Oefner, Peter J d   Dettmer, Katja d   Sterner, Christina d   Schroeder, Josef d   Zorger, Niels e   Witzgall, Ralph d   Reinhold, Stephan W d   Stanescu, Horia C a,f   Bockenhauer, Detlef a,b   more..


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EID: 84892566155     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1307581     Document Type: Article
Times cited : (92)

References (31)
  • 1
    • 0036066267 scopus 로고    scopus 로고
    • Cystinosis: Antibodies and healthy bodies
    • Kleta R, Gahl WA. Cystinosis: antibodies and healthy bodies. J Am Soc Nephrol 2002;13:2189-91.
    • (2002) J Am Soc Nephrol , vol.13 , pp. 2189-2191
    • Kleta, R.1    Gahl, W.A.2
  • 2
    • 79954611097 scopus 로고    scopus 로고
    • Tenofovir-associated kidney toxicity in HIV-infected patients: A review of the evidence
    • Hall AM, Hendry BM, Nitsch D, Connolly JO. Tenofovir-associated kidney toxicity in HIV-infected patients: a review of the evidence. Am J Kidney Dis 2011;57: 773-80.
    • (2011) Am J Kidney Dis , vol.57 , pp. 773-780
    • Hall, A.M.1    Hendry, B.M.2    Nitsch, D.3    Connolly, J.O.4
  • 3
    • 79952124892 scopus 로고    scopus 로고
    • New clues for nephrotoxicity induced by ifosfamide: Preferential renal uptake via the human organic cation transporter 2
    • Ciarimboli G, Holle SK, Vollenbröcker B, et al. New clues for nephrotoxicity induced by ifosfamide: preferential renal uptake via the human organic cation transporter 2. Mol Pharm 2011;8:270-9.
    • (2011) Mol Pharm , vol.8 , pp. 270-279
    • Ciarimboli, G.1    Holle, S.K.2    Vollenbröcker, B.3
  • 4
    • 53749097351 scopus 로고    scopus 로고
    • Fanconi or not Fanconi? Lowe syndrome revisited
    • Kleta R. Fanconi or not Fanconi? Lowe syndrome revisited. Clin J Am Soc Nephrol 2008;3:1244-5.
    • (2008) Clin J Am Soc Nephrol , vol.3 , pp. 1244-1245
    • Kleta, R.1
  • 5
    • 79957701753 scopus 로고    scopus 로고
    • Mito-chondria- targeted peptide accelerates ATP recovery and reduces ischemic kidney injury
    • Szeto HH, Liu S, Soong Y, et al. Mito-chondria- targeted peptide accelerates ATP recovery and reduces ischemic kidney injury. J Am Soc Nephrol 2011;22:1041-52.
    • (2011) J Am Soc Nephrol , vol.22 , pp. 1041-1052
    • Szeto, H.H.1    Liu, S.2    Soong, Y.3
  • 6
    • 79957750913 scopus 로고    scopus 로고
    • Pores for thought: New strategies to re-energize stressed mitochondria in acute kidney injury
    • Hall AM. Pores for thought: new strategies to re-energize stressed mitochondria in acute kidney injury. J Am Soc Nephrol 2011;22:986-9.
    • (2011) J Am Soc Nephrol , vol.22 , pp. 986-989
    • Hall, A.M.1
  • 7
    • 34548417712 scopus 로고    scopus 로고
    • Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome
    • Vilasi A, Cutillas PR, Maher AD, et al. Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome. Am J Physiol Renal Physiol 2007;293:F456-F467.
    • (2007) Am J Physiol Renal Physiol , vol.293
    • Vilasi, A.1    Cutillas, P.R.2    Maher, A.D.3
  • 8
    • 75749139617 scopus 로고    scopus 로고
    • Mutations in TRPV4 cause Charcot- Marie-Tooth disease type 2C
    • Landouré G, Zdebik AA, Martinez TL, et al. Mutations in TRPV4 cause Charcot- Marie-Tooth disease type 2C. Nat Genet 2010;42:170-4.
    • (2010) Nat Genet , vol.42 , pp. 170-174
    • Landouré, G.1    Zdebik, A.A.2    Martinez, T.L.3
  • 9
    • 34247887409 scopus 로고    scopus 로고
    • Downregulation of vasopressin V2 receptor promoter activity via V1a receptor pathway
    • Izumi Y, Nakayama Y, Mori T, et al. Downregulation of vasopressin V2 receptor promoter activity via V1a receptor pathway. Am J Physiol Renal Physiol 2007;292:F1418-F1426.
    • (2007) Am J Physiol Renal Physiol , vol.292
    • Izumi, Y.1    Nakayama, Y.2    Mori, T.3
  • 10
    • 0028893080 scopus 로고
    • Effects of cell differentiation on ion conductances and membrane voltage in LLC-PK1 cells
    • Kleta R, Mohrmann M, Schlatter E. Effects of cell differentiation on ion conductances and membrane voltage in LLC-PK1 cells. Pflugers Arch 1995;429:370-7.
    • (1995) Pflugers Arch , vol.429 , pp. 370-377
    • Kleta, R.1    Mohrmann, M.2    Schlatter, E.3
  • 11
    • 79251624872 scopus 로고    scopus 로고
    • Metabolite extraction from adherently growing mammalian cells for metabolomics studies: Optimization of harvesting and extraction protocols
    • Dettmer K, Nürnberger N, Kaspar H, Gruber MA, Almstetter MF, Oefner PJ. Metabolite extraction from adherently growing mammalian cells for metabolomics studies: optimization of harvesting and extraction protocols. Anal Bioanal Chem 2011;399:1127-39.
    • (2011) Anal Bioanal Chem , vol.399 , pp. 1127-1139
    • Dettmer, K.1    Nürnberger, N.2    Kaspar, H.3    Gruber, M.A.4    Almstetter, M.F.5    Oefner, P.J.6
  • 12
    • 31644443263 scopus 로고    scopus 로고
    • Preserved coupling of oxidative phosphorylation but decreased mitochondrial respiratory capacity in IL-1beta-treated human peritoneal mesothelial cells
    • Stadlmann S, Renner K, Pollheimer J, et al. Preserved coupling of oxidative phosphorylation but decreased mitochondrial respiratory capacity in IL-1beta-treated human peritoneal mesothelial cells. Cell Biochem Biophys 2006;44:179-86.
    • (2006) Cell Biochem Biophys , vol.44 , pp. 179-186
    • Stadlmann, S.1    Renner, K.2    Pollheimer, J.3
  • 13
    • 82355161907 scopus 로고    scopus 로고
    • High-resolution respirometry: OXPHOS protocols for human cell cultures and permeabilized fibers from small biopsies of human muscle
    • Pesta D, Gnaiger E. High-resolution respirometry: OXPHOS protocols for human cell cultures and permeabilized fibers from small biopsies of human muscle. Methods Mol Biol 2012;810:25-58.
    • Methods Mol Biol , vol.2012 , Issue.810 , pp. 25-58
    • Pesta, D.1    Gnaiger, E.2
  • 14
    • 0033025523 scopus 로고    scopus 로고
    • Absence of spontaneous peroxisome proliferation in enoyl-CoA hydratase/L-3-hydroxyacyl-CoA dehydrogenase-deficient mouse liver: Further support for the role of fatty acyl CoA oxidase in PPARalpha ligand metabolism
    • Qi C, Zhu Y, Pan J, et al. Absence of spontaneous peroxisome proliferation in enoyl-CoA hydratase/L-3-hydroxyacyl-CoA dehydrogenase-deficient mouse liver: further support for the role of fatty acyl CoA oxidase in PPARalpha ligand metabolism. J Biol Chem 1999;274:15775-80.
    • (1999) J Biol Chem , vol.274 , pp. 15775-15780
    • Qi, C.1    Zhu, Y.2    Pan, J.3
  • 16
    • 0026813695 scopus 로고
    • Idiopathic Fanconi syndrome in a family. Part I: Clinical aspects
    • Tolaymat A, Sakarcan A, Neiberger R. Idiopathic Fanconi syndrome in a family. Part I: clinical aspects. J Am Soc Nephrol 1992;2:1310-7.
    • (1992) J Am Soc Nephrol , vol.2 , pp. 1310-1317
    • Tolaymat, A.1    Sakarcan, A.2    Neiberger, R.3
  • 17
    • 0029915525 scopus 로고    scopus 로고
    • Computational method to predict mitochondrially imported proteins and their targeting sequences
    • Claros MG, Vincens P. Computational method to predict mitochondrially imported proteins and their targeting sequences. Eur J Biochem 1996;241:779-86.
    • (1996) Eur J Biochem , vol.241 , pp. 779-786
    • Claros, M.G.1    Vincens, P.2
  • 18
    • 0017052382 scopus 로고
    • The origin and characteristics of a pig kidney cell strain, LLC-PK
    • Hull RN, Cherry WR, Weaver GW. The origin and characteristics of a pig kidney cell strain, LLC-PK. In Vitro 1976;12:670-7.
    • (1976) In Vitro , vol.12 , pp. 670-677
    • Hull, R.N.1    Cherry, W.R.2    Weaver, G.W.3
  • 19
    • 33749025551 scopus 로고    scopus 로고
    • Bartter syndromes and other salt-losing tubulopathies
    • Kleta R, Bockenhauer D. Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol 2006;104:p73-p80.
    • (2006) Nephron Physiol , vol.104
    • Kleta, R.1    Bockenhauer, D.2
  • 20
    • 5144225376 scopus 로고    scopus 로고
    • Long-term follow-up of well-treated nephropathic cystinosis patients
    • Kleta R, Bernardini I, Ueda M, et al. Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr 2004; 145:555-60.
    • (2004) J Pediatr , vol.145 , pp. 555-560
    • Kleta, R.1    Bernardini, I.2    Ueda, M.3
  • 21
    • 53749090368 scopus 로고    scopus 로고
    • Renal phenotype in Lowe syndrome: A selective proximal tubular dysfunction
    • Bockenhauer D, Bokenkamp A, van't Hoff W, et al. Renal phenotype in Lowe syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol 2008; 3:1430-6.
    • (2008) Clin J Am Soc Nephrol , vol.3 , pp. 1430-1436
    • Bockenhauer, D.1    Bokenkamp, A.2    Van't Hoff, W.3
  • 22
    • 10944238594 scopus 로고    scopus 로고
    • A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria
    • Magen D, Sprecher E, Zelikovic I, Skorecki K. A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. Kidney Int 2005;67:34-41.
    • (2005) Kidney Int , vol.67 , pp. 34-41
    • Magen, D.1    Sprecher, E.2    Zelikovic, I.3    Skorecki, K.4
  • 23
    • 77950250437 scopus 로고    scopus 로고
    • A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome
    • Magen D, Berger L, Coady MJ, et al. A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. N Engl J Med 2010;362:1102-9.
    • (2010) N Engl J Med , vol.362 , pp. 1102-1109
    • Magen, D.1    Berger, L.2    Coady, M.J.3
  • 24
    • 0024592313 scopus 로고
    • Human renal Fanconi syndrome - then and now
    • Foreman JW, Roth KS. Human renal Fanconi syndrome - then and now. Nephron 1989;51:301-6.
    • (1989) Nephron , vol.51 , pp. 301-306
    • Foreman, J.W.1    Roth, K.S.2
  • 25
    • 0023890242 scopus 로고
    • Metabolic substrate utilization by rabbit proximal tubule: An NADH fluorescence study
    • Balaban RS, Mandel LJ. Metabolic substrate utilization by rabbit proximal tubule: an NADH fluorescence study. Am J Physiol 1988;254:F407-F416.
    • (1988) Am J Physiol , vol.254
    • Balaban, R.S.1    Mandel, L.J.2
  • 26
    • 0029999205 scopus 로고    scopus 로고
    • Renal involvement in mitochondrial cytopathies
    • Niaudet P, Rötig A. Renal involvement in mitochondrial cytopathies. Pediatr Nephrol 1996;10:368-73.
    • (1996) Pediatr Nephrol , vol.10 , pp. 368-373
    • Niaudet, P.1    Rötig, A.2
  • 27
    • 0034939632 scopus 로고    scopus 로고
    • Peroxisomal beta-oxidation and peroxisome proliferatoractivated receptor alpha: An adaptive metabolic system
    • Reddy JK, Hashimoto T. Peroxisomal beta-oxidation and peroxisome proliferatoractivated receptor alpha: an adaptive metabolic system. Annu Rev Nutr 2001;21:193-230.
    • (2001) Annu Rev Nutr , vol.21 , pp. 193-230
    • Reddy, J.K.1    Hashimoto, T.2
  • 28
    • 0034956080 scopus 로고    scopus 로고
    • Peroxisomal fatty acid alpha- and beta-oxidation in humans: Enzymology, peroxisomal metabolite transporters and peroxisomal diseases
    • Wanders RJ, Vreken P, Ferdinandusse S, et al. Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases. Biochem Soc Trans 2001;29:250-67.
    • (2001) Biochem Soc Trans , vol.29 , pp. 250-267
    • Wanders, R.J.1    Vreken, P.2    Ferdinandusse, S.3
  • 29
    • 84862333931 scopus 로고    scopus 로고
    • Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids
    • Houten SM, Denis S, Argmann CA, et al. Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids. J Lipid Res 2012;53:1296-303.
    • J Lipid Res , vol.2012 , Issue.53 , pp. 1296-1303
    • Houten, S.M.1    Denis, S.2    Argmann, C.A.3
  • 30
    • 33845288635 scopus 로고    scopus 로고
    • Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways
    • Danpure CJ. Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways. Biochim Biophys Acta 2006; 1763:1776-84.
    • (2006) Biochim Biophys Acta , vol.1763 , pp. 1776-1784
    • Danpure, C.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.