-
1
-
-
15344345998
-
Pediatric nephrology
-
In: Igarashi, T. (ed), Springer-Verlag, Berlin Heidelberg, Germany
-
Avner, E., Harmon, W., Niaudet, P. and Yoshikawa, N. (2009) Pediatric nephrology. In: Igarashi, T. (ed), Fanconi Syndrome. Springer-Verlag, Berlin Heidelberg, Germany, pp. 1039-1067.
-
(2009)
Fanconi Syndrome
, pp. 1039-1067
-
-
Avner, E.1
Harmon, W.2
Niaudet, P.3
Yoshikawa, N.4
-
2
-
-
0037062909
-
Cystinosis
-
Gahl, W.A., Thoene, J.G. and Schneider, J.A. (2002) Cystinosis. N. Engl. J. Med., 347, 111-121.
-
(2002)
N. Engl. J. Med.
, vol.347
, pp. 111-121
-
-
Gahl, W.A.1
Thoene, J.G.2
Schneider, J.A.3
-
3
-
-
0031945551
-
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
-
Town, M., Jean, G., Cherqui, S., Attard, M., Forestier, L., Whitmore, S.A., Callen, D.F., Gribouval, O., Broyer, M., Bates, G.P. et al. (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat. Genet., 18, 319-324.
-
(1998)
Nat. Genet.
, vol.18
, pp. 319-324
-
-
Town, M.1
Jean, G.2
Cherqui, S.3
Attard, M.4
Forestier, L.5
Whitmore, S.A.6
Callen, D.F.7
Gribouval, O.8
Broyer, M.9
Bates, G.P.10
-
4
-
-
0036837663
-
Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis
-
Cherqui, S., Sevin, C., Hamard, G., Kalatzis, V., Sich, M., Pequignot, M.O., Gogat, K., Abitbol, M., Broyer, M., Gubler, M.C. et al. (2002) Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol. Cell. Biol., 22, 7622-7632.
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 7622-7632
-
-
Cherqui, S.1
Sevin, C.2
Hamard, G.3
Kalatzis, V.4
Sich, M.5
Pequignot, M.O.6
Gogat, K.7
Abitbol, M.8
Broyer, M.9
Gubler, M.C.10
-
5
-
-
78349266424
-
The pathogenesis of cystinosis: mechanisms beyond cystine accumulation
-
Wilmer, M.J., Emma, F. and Levtchenko, E.N. (2010) The pathogenesis of cystinosis: mechanisms beyond cystine accumulation. Am. J. Physiol. Renal Physiol., 299, F905-F916.
-
(2010)
Am. J. Physiol. Renal Physiol.
, vol.299
-
-
Wilmer, M.J.1
Emma, F.2
Levtchenko, E.N.3
-
6
-
-
79954571291
-
Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells
-
Wilmer, M.J., Kluijtmans, L.A., van der Velden, T.J., Willems, P.H., Scheffer, P.G., Masereeuw, R., Monnens, L.A., van den Heuvel, L.P. and Levtchenko, E.N. (2011) Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells. Biochim. Biophys. Acta, 1812, 643-651.
-
(2011)
Biochim. Biophys. Acta
, vol.1812
, pp. 643-651
-
-
Wilmer, M.J.1
Kluijtmans, L.A.2
van der Velden, T.J.3
Willems, P.H.4
Scheffer, P.G.5
Masereeuw, R.6
Monnens, L.A.7
Van den Heuvel, L.P.8
Levtchenko, E.N.9
-
7
-
-
77949398364
-
Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis
-
Sansanwal, P., Yen, B., Gahl, W.A., Ma, Y., Ying, L., Wong, L.J. and Sarwal, M.M. (2010) Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis. J. Am. Soc. Nephrol., 21, 272-283.
-
(2010)
J. Am. Soc. Nephrol.
, vol.21
, pp. 272-283
-
-
Sansanwal, P.1
Yen, B.2
Gahl, W.A.3
Ma, Y.4
Ying, L.5
Wong, L.J.6
Sarwal, M.M.7
-
8
-
-
43849097689
-
Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis
-
Wilmer, M.J., Christensen, E.I., van den Heuvel, L.P., Monnens, L.A. and Levtchenko, E.N. (2008) Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis. Am. J. Kidney Dis., 51, 893-903.
-
(2008)
Am. J. Kidney Dis.
, vol.51
, pp. 893-903
-
-
Wilmer, M.J.1
Christensen, E.I.2
Van den Heuvel, L.P.3
Monnens, L.A.4
Levtchenko, E.N.5
-
9
-
-
84855184663
-
Cysteamine therapy: a treatment for cystinosis, not a cure
-
Cherqui, S. (2012) Cysteamine therapy: a treatment for cystinosis, not a cure. Kidney Int., 81, 127-129.
-
(2012)
Kidney Int.
, vol.81
, pp. 127-129
-
-
Cherqui, S.1
-
10
-
-
77950244078
-
Renal phenotype of the cystinosis mouse model is dependent upon genetic background
-
Nevo, N., Chol, M., Bailleux, A., Kalatzis, V., Morisset, L., Devuyst, O., Gubler, M.C. and Antignac, C. (2010) Renal phenotype of the cystinosis mouse model is dependent upon genetic background. Nephrol. Dial. Transplant., 25, 1059-1066.
-
(2010)
Nephrol. Dial. Transplant.
, vol.25
, pp. 1059-1066
-
-
Nevo, N.1
Chol, M.2
Bailleux, A.3
Kalatzis, V.4
Morisset, L.5
Devuyst, O.6
Gubler, M.C.7
Antignac, C.8
-
11
-
-
34548439530
-
A primary culture of mouse proximal tubular cells, established on collagen-coated membranes
-
Terryn, S., Jouret, F., Vandenabeele, F., Smolders, I., Moreels, M., Devuyst, O., Steels, P. and Van Kerkhove, E. (2007) A primary culture of mouse proximal tubular cells, established on collagen-coated membranes. Am. J. Physiol. Renal Physiol., 293, F476-F485.
-
(2007)
Am. J. Physiol. Renal Physiol.
, vol.293
-
-
Terryn, S.1
Jouret, F.2
Vandenabeele, F.3
Smolders, I.4
Moreels, M.5
Devuyst, O.6
Steels, P.7
Van Kerkhove, E.8
-
12
-
-
77955663406
-
The soluble intracellular domain of megalin does not affect renal proximal tubular function in vivo
-
Christ, A., Terryn, S., Schmidt, V., Christensen, E.I., Huska, M.R., Andrade-Navarro, M.A., Huübner, N., Devuyst, O., Hammes, A. and Willnow, T.E. (2010) The soluble intracellular domain of megalin does not affect renal proximal tubular function in vivo. Kidney Int., 78, 473-474.
-
(2010)
Kidney Int.
, vol.78
, pp. 473-474
-
-
Christ, A.1
Terryn, S.2
Schmidt, V.3
Christensen, E.I.4
Huska, M.R.5
Andrade-Navarro, M.A.6
Huübner, N.7
Devuyst, O.8
Hammes, A.9
Willnow, T.E.10
-
13
-
-
45249119501
-
Type III carbonic anhydrase: a novel renal isoform that plays a role in proximal tubule dysfunction
-
Gailly, P., Jouret, F., Martin, D., Debaix, H., Parreira, K.S., Nishita, T., Blanchard, A., Antignac, C., Willnow, T.E., Courtoy, P.J. et al. (2008) Type III carbonic anhydrase: a novel renal isoform that plays a role in proximal tubule dysfunction. Kidney Int., 74, 52-61.
-
(2008)
Kidney Int.
, vol.74
, pp. 52-61
-
-
Gailly, P.1
Jouret, F.2
Martin, D.3
Debaix, H.4
Parreira, K.S.5
Nishita, T.6
Blanchard, A.7
Antignac, C.8
Willnow, T.E.9
Courtoy, P.J.10
-
14
-
-
77949897625
-
ZONAB promotes proliferation and represses differentiation of proximal tubule epithelial cells
-
Lima, W.R., Parreira, K.S., Devuyst, O., Caplanusi, A., N'kuli, F., Marien, B., Van Der Smissen, P., Alves, P.M., Verroust, P., Christensen, E.I. et al. (2010) ZONAB promotes proliferation and represses differentiation of proximal tubule epithelial cells. J. Am. Soc. Nephrol., 21, 478-488.
-
(2010)
J. Am. Soc. Nephrol.
, vol.21
, pp. 478-488
-
-
Lima, W.R.1
Parreira, K.S.2
Devuyst, O.3
Caplanusi, A.4
N'kuli, F.5
Marien, B.6
Van Der Smissen, P.7
Alves, P.M.8
Verroust, P.9
Christensen, E.I.10
-
15
-
-
78149282263
-
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders
-
Fraldi, A., Annunziata, F., Lombardi, A., Kaiser, H.J., Medina, D.L., Spampanato, C., Fedele, A.O., Polishchuk, R., Sorrentino, N.C., Simons, K. et al. (2010) Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. EMBO J., 29, 3607-3620.
-
(2010)
EMBO J.
, vol.29
, pp. 3607-3620
-
-
Fraldi, A.1
Annunziata, F.2
Lombardi, A.3
Kaiser, H.J.4
Medina, D.L.5
Spampanato, C.6
Fedele, A.O.7
Polishchuk, R.8
Sorrentino, N.C.9
Simons, K.10
-
16
-
-
84876812269
-
Signals from the lysosome: a control centre for cellular clearance and energy metabolism
-
Settembre, C., Fraldi, A., Medina, D.L. and Ballabio, A. (2013) Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat. Rev. Mol. Cell. Biol., 14, 283-296.
-
(2013)
Nat. Rev. Mol. Cell. Biol.
, vol.14
, pp. 283-296
-
-
Settembre, C.1
Fraldi, A.2
Medina, D.L.3
Ballabio, A.4
-
17
-
-
70349567495
-
Receptor mediated endocytosis in renal proximal tubules
-
Christensen, E.I., Verroust, P.J. and Nielsen, R. (2009) Receptor mediated endocytosis in renal proximal tubules. Pflugers Arch., 458, 1039-1048.
-
(2009)
Pflugers Arch.
, vol.458
, pp. 1039-1048
-
-
Christensen, E.I.1
Verroust, P.J.2
Nielsen, R.3
-
18
-
-
35348955370
-
Genetics of hypercalciuric stone forming diseases
-
Devuyst, O. and Pirson, Y. (2007) Genetics of hypercalciuric stone forming diseases. Kidney Int., 72, 1065-1072.
-
(2007)
Kidney Int.
, vol.72
, pp. 1065-1072
-
-
Devuyst, O.1
Pirson, Y.2
-
20
-
-
34547549299
-
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
-
Kantarci, S., Al-Gazali, L., Hill, R.S., Donnai, D., Black, G.C., Bieth, E., Chassaing, N., Lacombe, D., Devriendt, K., Teebi, A. et al. (2007) Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet., 39, 957-959.
-
(2007)
Nat Genet.
, vol.39
, pp. 957-959
-
-
Kantarci, S.1
Al-Gazali, L.2
Hill, R.S.3
Donnai, D.4
Black, G.C.5
Bieth, E.6
Chassaing, N.7
Lacombe, D.8
Devriendt, K.9
Teebi, A.10
-
21
-
-
1442357042
-
The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless
-
Fyfe, J.C., Madsen, M., Højrup, P., Christensen, E.I., Tanner, S.M., de la Chapelle, A., He, Q. and Moestrup, S.K. (2004) The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. Blood, 103, 1573-1579.
-
(2004)
Blood
, vol.103
, pp. 1573-1579
-
-
Fyfe, J.C.1
Madsen, M.2
Højrup, P.3
Christensen, E.I.4
Tanner, S.M.5
de la Chapelle, A.6
He, Q.7
Moestrup, S.K.8
-
22
-
-
75149152495
-
CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease
-
Reed, A.A., Loh, N.Y., Terryn, S., Lippiat, J.D., Partridge, C., Galvanovskis, J., Williams, S.E., Jouret, F., Wu, F.T., Courtoy, P.J. et al. (2010) CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease. Am. J. Physiol. Renal. Physiol., 298, F365-F380.
-
(2010)
Am. J. Physiol. Renal. Physiol.
, vol.298
-
-
Reed, A.A.1
Loh, N.Y.2
Terryn, S.3
Lippiat, J.D.4
Partridge, C.5
Galvanovskis, J.6
Williams, S.E.7
Jouret, F.8
Wu, F.T.9
Courtoy, P.J.10
-
23
-
-
34248344646
-
Endocytosis provides a major alternative pathway for lysosomal biogenesis in kidney proximal tubular cells
-
U S A.
-
Nielsen, R., Courtoy, P.J., Jacobsen, C., Dom, G., Lima, W.R., Jadot, M., Willnow, T.E., Devuyst, O. and Christensen, E.I. (2007) Endocytosis provides a major alternative pathway for lysosomal biogenesis in kidney proximal tubular cells. Proc. Natl. Acad. Sci. U S A., 104, 5407-5412.
-
(2007)
Proc. Natl. Acad. Sci.
, vol.104
, pp. 5407-5412
-
-
Nielsen, R.1
Courtoy, P.J.2
Jacobsen, C.3
Dom, G.4
Lima, W.R.5
Jadot, M.6
Willnow, T.E.7
Devuyst, O.8
Christensen, E.I.9
-
24
-
-
0038153196
-
Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules
-
Christensen, E.I., Devuyst, O., Dom, G., Nielsen, R., Van der Smissen, P., Verroust, P., Leruth, M., Guggino, W.B. and Courtoy, P.J. (2003) Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc. Natl. Acad. Sci. USA, 100, 8472-8477.
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 8472-8477
-
-
Christensen, E.I.1
Devuyst, O.2
Dom, G.3
Nielsen, R.4
Van der Smissen, P.5
Verroust, P.6
Leruth, M.7
Guggino, W.B.8
Courtoy, P.J.9
-
25
-
-
75149133768
-
Single photon emission-computed tomography (SPECT) for functional investigation of the proximal tubule in conscious mice
-
Jouret, F., Walrand, S., Parreira, K.S., Courtoy, P.J., Pauwels, S., Devuyst, O. and Jamar, F. (2010) Single photon emission-computed tomography (SPECT) for functional investigation of the proximal tubule in conscious mice. Am. J. Physiol. Renal. Physiol., 298, F454-F460.
-
(2010)
Am. J. Physiol. Renal. Physiol.
, vol.298
-
-
Jouret, F.1
Walrand, S.2
Parreira, K.S.3
Courtoy, P.J.4
Pauwels, S.5
Devuyst, O.6
Jamar, F.7
-
26
-
-
78649929398
-
The transcription factor HNF1a regulates expression of chloride-proton exchanger ClC-5 in the renal proximal tubule
-
Tanaka, K., Terryn, S., Geffers, L., Garbay, S., Pontoglio, M. and Devuyst, O. (2010) The transcription factor HNF1a regulates expression of chloride-proton exchanger ClC-5 in the renal proximal tubule. Am. J. Physiol. Renal Physiol., 299, F1339-F1347.
-
(2010)
Am. J. Physiol. Renal Physiol.
, vol.299
-
-
Tanaka, K.1
Terryn, S.2
Geffers, L.3
Garbay, S.4
Pontoglio, M.5
Devuyst, O.6
-
27
-
-
42449141549
-
Regulation of dedifferentiation and redifferentiation in renal proximal tubular cells by the epidermal growth factor receptor
-
Hallman, M.A., Zhuang, S. and Schnellmann, R.G. (2008) Regulation of dedifferentiation and redifferentiation in renal proximal tubular cells by the epidermal growth factor receptor. J. Pharmacol. Exp. Ther., 325, 520-528.
-
(2008)
J. Pharmacol. Exp. Ther.
, vol.325
, pp. 520-528
-
-
Hallman, M.A.1
Zhuang, S.2
Schnellmann, R.G.3
-
28
-
-
0034642297
-
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis
-
Wang, S.S., Devuyst, O., Courtoy, P.J., Wang, X.T., Wang, H., Wang, Y., Thakker, R.V., Guggino, S. and Guggino, W.B. (2000) Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. Hum. Mol. Genet., 9, 2937-2945.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2937-2945
-
-
Wang, S.S.1
Devuyst, O.2
Courtoy, P.J.3
Wang, X.T.4
Wang, H.5
Wang, Y.6
Thakker, R.V.7
Guggino, S.8
Guggino, W.B.9
-
29
-
-
33947242252
-
Cystic fibrosis is associated with a defect in apical receptor-mediated endocytosis in mouse and human kidney
-
Jouret, F., Bernard, A., Hermans, C., Dom, G., Terryn, S., Leal, T., Lebecque, P., Cassiman, J.J., Scholte, B.J., de Jonge, H.R. et al. (2007) Cystic fibrosis is associated with a defect in apical receptor-mediated endocytosis in mouse and human kidney. J. Am. Soc. Nephrol., 18, 707-718.
-
(2007)
J. Am. Soc. Nephrol.
, vol.18
, pp. 707-718
-
-
Jouret, F.1
Bernard, A.2
Hermans, C.3
Dom, G.4
Terryn, S.5
Leal, T.6
Lebecque, P.7
Cassiman, J.J.8
Scholte, B.J.9
De Jonge, H.R.10
-
30
-
-
64149097786
-
The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments
-
Bustin, S.A., Benes, V., Garson, J.A., Hellemans, J., Huggett, J., Kubista, M., Mueller, R., Nolan, T., Pfaffl, M.W., Shipley, G.L. et al. (2009) The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments. Clin. Chem., 55, 611-622.
-
(2009)
Clin. Chem.
, vol.55
, pp. 611-622
-
-
Bustin, S.A.1
Benes, V.2
Garson, J.A.3
Hellemans, J.4
Huggett, J.5
Kubista, M.6
Mueller, R.7
Nolan, T.8
Pfaffl, M.W.9
Shipley, G.L.10
-
31
-
-
84875640261
-
Interplay of LRRK2 with chaperone-mediated autophagy
-
Orenstein, S.J., Kuo, S.H., Tasset, I., Arias, E., Koga, H., Fernandez-Carasa, I., Cortes, E., Honig, L.S., Dauer, W., Consiglio, A. et al. (2013) Interplay of LRRK2 with chaperone-mediated autophagy. Nat. Neurosci., 16, 394-406.
-
(2013)
Nat. Neurosci.
, vol.16
, pp. 394-406
-
-
Orenstein, S.J.1
Kuo, S.H.2
Tasset, I.3
Arias, E.4
Koga, H.5
Fernandez-Carasa, I.6
Cortes, E.7
Honig, L.S.8
Dauer, W.9
Consiglio, A.10
-
32
-
-
34249706461
-
Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry
-
Chabli, A., Aupetit, J., Raehm, M., Ricquier, D. and Chadefaux-Vekemans, B. (2007) Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry. Clin. Biochem., 40, 692-698.
-
(2007)
Clin. Biochem.
, vol.40
, pp. 692-698
-
-
Chabli, A.1
Aupetit, J.2
Raehm, M.3
Ricquier, D.4
Chadefaux-Vekemans, B.5
|