-
1
-
-
78149299782
-
Cubilin is essential for albumin reabsorption in the renal proximal tubule
-
Amsellem S, Gburek J, Hamard G, Nielsen R, Willnow TE, Devuyst O, Nexo E, Verroust PJ, Christensen EI, Kozyraki R. Cubilin is essential for albumin reabsorption in the renal proximal tubule. J Am Soc Nephrol 21: 1859-1867, 2010.
-
(2010)
J Am Soc Nephrol
, vol.21
, pp. 1859-1867
-
-
Amsellem, S.1
Gburek, J.2
Hamard, G.3
Nielsen, R.4
Willnow, T.E.5
Devuyst, O.6
Nexo, E.7
Verroust, P.J.8
Christensen, E.I.9
Kozyraki, R.10
-
2
-
-
0022615966
-
Action myoclonus-renal failure syndrome: A previously unrecognized neurological disorder unmasked by advances in ne-phrology
-
Andermann E, Andermann F, Carpenter S, Wolfe LS, Nelson R, Patry G, Boileau J. Action myoclonus-renal failure syndrome: a previously unrecognized neurological disorder unmasked by advances in ne-phrology. Adv Neurol 43: 87-103, 1986.
-
(1986)
Adv Neurol
, vol.43
, pp. 87-103
-
-
Andermann, E.1
Andermann, F.2
Carpenter, S.3
Wolfe, L.S.4
Nelson, R.5
Patry, G.6
Boileau, J.7
-
3
-
-
4944242282
-
Action myoclonus-renal failure syndrome: Characterization of a unique cerebro-renal disorder
-
Badhwar A, Berkovic SF, Dowling JP, Gonzales M, Narayanan S, Brodtmann A, Berzen L, Caviness J, Trenkwalder C, Winkelmann J, Rivest J, Lambert M, Hernandez-Cossio O, Carpenter S, An-dermann F, Andermann E. Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder. Brain 127: 2173-2182, 2004.
-
(2004)
Brain
, vol.127
, pp. 2173-2182
-
-
Badhwar, A.1
Berkovic, S.F.2
Dowling, J.P.3
Gonzales, M.4
Narayanan, S.5
Brodtmann, A.6
Berzen, L.7
Caviness, J.8
Trenkwalder, C.9
Winkelmann, J.10
Rivest, J.11
Lambert, M.12
Hernandez-Cossio, O.13
Carpenter, S.14
An-Dermann, F.15
Andermann, E.16
-
4
-
-
40849144062
-
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
-
Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lullmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet 82: 673-684, 2008.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 673-684
-
-
Berkovic, S.F.1
Dibbens, L.M.2
Oshlack, A.3
Silver, J.D.4
Katerelos, M.5
Vears, D.F.6
Lullmann-Rauch, R.7
Blanz, J.8
Zhang, K.W.9
Stankovich, J.10
Kalnins, R.M.11
Dowling, J.P.12
Andermann, E.13
Andermann, F.14
Faldini, E.15
D'Hooge, R.16
Vadlamudi, L.17
Macdonell, R.A.18
Hodgson, B.L.19
Bayly, M.A.20
Savige, J.21
Mulley, J.C.22
Smyth, G.K.23
Power, D.A.24
Saftig, P.25
Bahlo, M.26
more..
-
5
-
-
0023695533
-
The renal uptake of proteins: A nonselective process in conscious rats
-
Bernard A, Amor AO, Viau C, Lauwerys R. The renal uptake of proteins: a nonselective process in conscious rats. Kidney Int 34: 175-185, 1988.
-
(1988)
Kidney Int
, vol.34
, pp. 175-185
-
-
Bernard, A.1
Amor, A.O.2
Viau, C.3
Lauwerys, R.4
-
6
-
-
33845505232
-
PKB and megalin determine the survival or death of renal proximal tubule cells
-
Caruso-Neves C, Pinheiro AA, Cai H, Souza-Menezes J, Guggino WB. PKB and megalin determine the survival or death of renal proximal tubule cells. Proc Natl Acad Sci USA 103: 18810-18815, 2006.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 18810-18815
-
-
Caruso-Neves, C.1
Pinheiro, A.A.2
Cai, H.3
Souza-Menezes, J.4
Guggino, W.B.5
-
7
-
-
0038153196
-
Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules
-
Christensen EI, Devuyst O, Dom G, Nielsen R, Van der Smissen P, Verroust P, Leruth M, Guggino WB, Courtoy PJ. 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.
-
(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
-
8
-
-
0033025413
-
Evidence for an essential role of megalin in transepithelial transport of retinol
-
Christensen EI, Moskaug JO, Vorum H, Jacobsen C, Gundersen TE, Nykjaer A, Blomhoff R, Willnow TE, Moestrup SK. Evidence for an essential role of megalin in transepithelial transport of retinol. J Am Soc Nephrol 10: 685-695, 1999.
-
(1999)
J Am Soc Nephrol
, vol.10
, pp. 685-695
-
-
Christensen, E.I.1
Moskaug, J.O.2
Vorum, H.3
Jacobsen, C.4
Gundersen, T.E.5
Nykjaer, A.6
Blomhoff, R.7
Willnow, T.E.8
Moestrup, S.K.9
-
9
-
-
0037338437
-
Pathophysiology of proteinuria
-
D'Amico G, Bazzi C. Pathophysiology of proteinuria. Kidney Int 63: 809-825, 2003.
-
(2003)
Kidney Int
, vol.63
, pp. 809-825
-
-
D'Amico, G.1
Bazzi, C.2
-
10
-
-
64749085047
-
Identification of abundant alkyl ether glycerophospholipids in the human lens by tandem mass spectrometry techniques
-
Deeley JM, Thomas MC, Truscott RJ, Mitchell TW, Blanksby SJ. Identification of abundant alkyl ether glycerophospholipids in the human lens by tandem mass spectrometry techniques. Anal Chem 81: 1920-1930, 2009.
-
(2009)
Anal Chem
, vol.81
, pp. 1920-1930
-
-
Deeley, J.M.1
Thomas, M.C.2
Truscott, R.J.3
Mitchell, T.W.4
Blanksby, S.J.5
-
11
-
-
79958084119
-
Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2
-
Desmond MJ, Lee D, Fraser SA, Katerelos M, Gleich K, Martinello P, Li YQ, Thomas MC, Michelucci R, Cole AJ, Saftig P, Schwake M, Stapleton D, Berkovic SF, Power DA. Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2. Am J Physiol Renal Physiol 300: F1437-F1447, 2011.
-
(2011)
Am J Physiol Renal Physiol
, vol.300
-
-
Desmond, M.J.1
Lee, D.2
Fraser, S.A.3
Katerelos, M.4
Gleich, K.5
Martinello, P.6
Li, Y.Q.7
Thomas, M.C.8
Michelucci, R.9
Cole, A.J.10
Saftig, P.11
Schwake, M.12
Stapleton, D.13
Berkovic, S.F.14
Power, D.A.15
-
12
-
-
0032953770
-
Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease
-
Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV. Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet 8: 247-257, 1999.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 247-257
-
-
Devuyst, O.1
Christie, P.T.2
Courtoy, P.J.3
Beauwens, R.4
Thakker, R.V.5
-
13
-
-
70449364101
-
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure
-
Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. Ann Neurol 66: 532-536, 2009.
-
(2009)
Ann Neurol
, vol.66
, pp. 532-536
-
-
Dibbens, L.M.1
Michelucci, R.2
Gambardella, A.3
Andermann, F.4
Rubboli, G.5
Bayly, M.A.6
Joensuu, T.7
Vears, D.F.8
Franceschetti, S.9
Canafoglia, L.10
Wallace, R.11
Bassuk, A.G.12
Power, D.A.13
Tassinari, C.A.14
Andermann, E.15
Lehesjoki, A.E.16
Berkovic, S.F.17
-
14
-
-
2342570276
-
Utility of endogenous creatinine clearance as a measure of renal function in mice
-
Dunn SR, Qi Z, Bottinger EP, Breyer MD, Sharma K. Utility of endogenous creatinine clearance as a measure of renal function in mice. Kidney Int 65: 1959-1967, 2004.
-
(2004)
Kidney Int
, vol.65
, pp. 1959-1967
-
-
Dunn, S.R.1
Qi, Z.2
Bottinger, E.P.3
Breyer, M.D.4
Sharma, K.5
-
15
-
-
0024455538
-
Interstitial nephritis induced by protein-overload proteinuria
-
Eddy AA. Interstitial nephritis induced by protein-overload proteinuria. Am J Pathol 135: 719-733, 1989.
-
(1989)
Am J Pathol
, vol.135
, pp. 719-733
-
-
Eddy, A.A.1
-
16
-
-
1042280361
-
Proteinuria and interstitial injury
-
Eddy AA. Proteinuria and interstitial injury. Nephrol Dial Transplant 19: 277-281, 2004.
-
(2004)
Nephrol Dial Transplant
, vol.19
, pp. 277-281
-
-
Eddy, A.A.1
-
17
-
-
0033867619
-
Interstitial fibrosis in mice with overload proteinuria: Deficiency of TIMP-1 is not protective
-
Eddy AA, Kim H, Lopez-Guisa J, Oda T, Soloway PD. Interstitial fibrosis in mice with overload proteinuria: deficiency of TIMP-1 is not protective. Kidney Int 58: 618-628, 2000.
-
(2000)
Kidney Int
, vol.58
, pp. 618-628
-
-
Eddy, A.A.1
Kim, H.2
Lopez-Guisa, J.3
Oda, T.4
Soloway, P.D.5
-
18
-
-
0028033777
-
Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis)
-
Fisher SE, Black GC, Lloyd SE, Hatchwell E, Wrong O, Thakker RV, Craig IW. Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis). Hum Mol Genet 3: 2053-2059, 1994.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2053-2059
-
-
Fisher, S.E.1
Black, G.C.2
Lloyd, S.E.3
Hatchwell, E.4
Wrong, O.5
Thakker, R.V.6
Craig, I.W.7
-
19
-
-
0037444221
-
LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice
-
Gamp AC, Tanaka Y, Lullmann-Rauch R, Wittke D, D'Hooge R, De Deyn PP, Moser T, Maier H, Hartmann D, Reiss K, Illert AL, von Figura K, Saftig P. LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice. Hum Mol Genet 12: 631-646, 2003.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 631-646
-
-
Gamp, A.C.1
Tanaka, Y.2
Lullmann-Rauch, R.3
Wittke, D.4
D'Hooge, R.5
de Deyn, P.P.6
Moser, T.7
Maier, H.8
Hartmann, D.9
Reiss, K.10
Illert, A.L.11
von Figura, K.12
Saftig, P.13
-
20
-
-
0031776274
-
Long-term protein exposure reduces albumin binding and uptake in proximal tubule-derived opossum kidney cells
-
Gekle M, Mildenberger S, Freudinger R, Silbernagl S. Long-term protein exposure reduces albumin binding and uptake in proximal tubule-derived opossum kidney cells. J Am Soc Nephrol 9: 960-968, 1998.
-
(1998)
J Am Soc Nephrol
, vol.9
, pp. 960-968
-
-
Gekle, M.1
Mildenberger, S.2
Freudinger, R.3
Silbernagl, S.4
-
21
-
-
34248165629
-
Imerslund-Grasbeck syndrome [selective vitamin B(12) malabsorption with proteinuria]
-
Grasbeck R. Imerslund-Grasbeck syndrome [selective vitamin B(12) malabsorption with proteinuria]. Orphanet J Rare Dis 1: 17, 2006.
-
(2006)
Orphanet J Rare Dis
, vol.1
, pp. 17
-
-
Grasbeck, R.1
-
22
-
-
33644850764
-
In mice, proteinuria and renal inflammatory responses to albumin overload are strain-dependent
-
Ishola DA, van der Giezen DM, Hahnel B, Goldschmeding R, Kriz W, Koomans HA, Joles JA. In mice, proteinuria and renal inflammatory responses to albumin overload are strain-dependent. Nephrol Dial Transplant 21: 591-597, 2006.
-
(2006)
Nephrol Dial Transplant
, vol.21
, pp. 591-597
-
-
Ishola, D.A.1
van der Giezen, D.M.2
Hahnel, B.3
Goldschmeding, R.4
Kriz, W.5
Koomans, H.A.6
Joles, J.A.7
-
23
-
-
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 RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet 39: 957-959, 2007.
-
(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
Loscertales, M.11
Robson, C.12
Liu, T.13
Maclaughlin, D.T.14
Noonan, K.M.15
Russell, M.K.16
Walsh, C.A.17
Donahoe, P.K.18
Pober, B.R.19
-
24
-
-
55249090852
-
Megalin contributes to the early injury of proximal tubule cells during nonselective proteinuria
-
Motoyoshi Y, Matsusaka T, Saito A, Pastan I, Willnow TE, Mizutani S, Ichikawa I. Megalin contributes to the early injury of proximal tubule cells during nonselective proteinuria. Kidney Int 74: 1262-1269, 2008.
-
(2008)
Kidney Int
, vol.74
, pp. 1262-1269
-
-
Motoyoshi, Y.1
Matsusaka, T.2
Saito, A.3
Pastan, I.4
Willnow, T.E.5
Mizutani, S.6
Ichikawa, I.7
-
25
-
-
77951254352
-
Proteinuria and events beyond the slit
-
Nielsen R, Christensen EI. Proteinuria and events beyond the slit. Pediatr Nephrol 25: 813-822, 2010.
-
(2010)
Pediatr Nephrol
, vol.25
, pp. 813-822
-
-
Nielsen, R.1
Christensen, E.I.2
-
26
-
-
34248344646
-
Endocytosis provides a major alternative pathway for lysosomal biogenesis in kidney proximal tubular cells
-
Nielsen R, Courtoy PJ, Jacobsen C, Dom G, Lima WR, Jadot M, Willnow TE, Devuyst O, Christensen EI. Endocytosis provides a major alternative pathway for lysosomal biogenesis in kidney proximal tubular cells. Proc Natl Acad Sci USA 104: 5407-5412, 2007.
-
(2007)
Proc Natl Acad Sci USA
, 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
-
27
-
-
0034773644
-
Glomerular protein sieving and implications for renal failure in Fanconi syndrome
-
Norden AG, Lapsley M, Lee PJ, Pusey CD, Scheinman SJ, Tam FW, Thakker RV, Unwin RJ, Wrong O. Glomerular protein sieving and implications for renal failure in Fanconi syndrome. Kidney Int 60: 1885-1892, 2001.
-
(2001)
Kidney Int
, vol.60
, pp. 1885-1892
-
-
Norden, A.G.1
Lapsley, M.2
Lee, P.J.3
Pusey, C.D.4
Scheinman, S.J.5
Tam, F.W.6
Thakker, R.V.7
Unwin, R.J.8
Wrong, O.9
-
28
-
-
0025342624
-
Effect of low molecular weight proteins and dextran on renal cathepsin B and L activity
-
Olbricht CJ, Gutjahr E, Cannon JK, Irmler H, Tisher CC. Effect of low molecular weight proteins and dextran on renal cathepsin B and L activity. Kidney Int 37: 918-926, 1990.
-
(1990)
Kidney Int
, vol.37
, pp. 918-926
-
-
Olbricht, C.J.1
Gutjahr, E.2
Cannon, J.K.3
Irmler, H.4
Tisher, C.C.5
-
29
-
-
17344392308
-
A new mathematical model for relative quantification in real-time RT-PCR
-
Pfaffl MW. A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29: e45, 2001.
-
(2001)
Nucleic Acids Res
, vol.29
-
-
Pfaffl, M.W.1
-
30
-
-
0034676433
-
ClC-5 CU-channel disruption impairs endocytosis in a mouse model for Dent's disease
-
Piwon N, Gunther W, Schwake M, Bosl MR, Jentsch TJ. ClC-5 CU-channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 408: 369-373, 2000.
-
(2000)
Nature
, vol.408
, pp. 369-373
-
-
Piwon, N.1
Gunther, W.2
Schwake, M.3
Bosl, M.R.4
Jentsch, T.J.5
-
31
-
-
0031819895
-
Urinary protein excretion rate is the best independent predictor of ESRF in non-diabetic proteinuric chronic nephropathies. "Gruppo Italiano di Studi Epidemiologici in Nefrologia" (GISEN)
-
Ruggenenti P, Perna A, Mosconi L, Pisoni R, Remuzzi G. Urinary protein excretion rate is the best independent predictor of ESRF in non-diabetic proteinuric chronic nephropathies. "Gruppo Italiano di Studi Epidemiologici in Nefrologia" (GISEN). Kidney Int 53: 1209-1216, 1998.
-
(1998)
Kidney Int
, vol.53
, pp. 1209-1216
-
-
Ruggenenti, P.1
Perna, A.2
Mosconi, L.3
Pisoni, R.4
Remuzzi, G.5
-
32
-
-
69249227502
-
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
-
33
-
-
0024215691
-
Assembly of lysosomes: Perspectives from comparative molecular cell biology
-
Storrie B. Assembly of lysosomes: perspectives from comparative molecular cell biology. Intl Rev Cytol 111: 53-105, 1988.
-
(1988)
Intl Rev Cytol
, vol.111
, pp. 53-105
-
-
Storrie, B.1
-
34
-
-
0026445848
-
Intrarenal handling of proteins in rats using fractional micropuncture technique
-
Tojo A, Endou H. Intrarenal handling of proteins in rats using fractional micropuncture technique. Am J Physiol Renal Fluid Electrolyte Physiol 263: F601-F606, 1992.
-
(1992)
Am J Physiol Renal Fluid Electrolyte Physiol
, vol.263
-
-
Tojo, A.1
Endou, H.2
-
35
-
-
33749855543
-
Action myoclonus-renal failure syndrome: A cause for worsening tremor in young adults
-
Vadlamudi L, Vears DF, Hughes A, Pedagogus E, Berkovic SF. Action myoclonus-renal failure syndrome: a cause for worsening tremor in young adults. Neurology 67: 1310-1311, 2006.
-
(2006)
Neurology
, vol.67
, pp. 1310-1311
-
-
Vadlamudi, L.1
Vears, D.F.2
Hughes, A.3
Pedagogus, E.4
Berkovic, S.F.5
-
36
-
-
77954812754
-
The effect of progressive glomerular disease on megalin-mediated endocytosis in the kidney
-
Vinge L, Lees GE, Nielsen R, Kashtan CE, Bahr A, Christensen EI. The effect of progressive glomerular disease on megalin-mediated endocytosis in the kidney. Nephrol Dial Transplant 25: 2458-2467, 2010.
-
(2010)
Nephrol Dial Transplant
, vol.25
, pp. 2458-2467
-
-
Vinge, L.1
Lees, G.E.2
Nielsen, R.3
Kashtan, C.E.4
Bahr, A.5
Christensen, E.I.6
-
37
-
-
72749119040
-
Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7
-
Wartosch L, Fuhrmann JC, Schweizer M, Stauber T, Jentsch TJ. Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7. FASEB J 23: 4056-4068, 2009.
-
(2009)
FASEB J
, vol.23
, pp. 4056-4068
-
-
Wartosch, L.1
Fuhrmann, J.C.2
Schweizer, M.3
Stauber, T.4
Jentsch, T.J.5
-
38
-
-
0028038212
-
Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercal-ciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance
-
Wrong OM, Norden AG, Feest TG. Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercal-ciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. QJM 87: 473-493, 1994.
-
(1994)
QJM
, vol.87
, pp. 473-493
-
-
Wrong, O.M.1
Norden, A.G.2
Feest, T.G.3
|