-
1
-
-
0000966393
-
Lysosomal transport disorders: Cystinosis and sialic acid storage disorders
-
C.R. Scriver A.L. Beaudet W.S. Sly D. Valle McGraw-Hill New York
-
W.A. Gahl, J.A. Schneider, and P. Aula Lysosomal transport disorders: cystinosis and sialic acid storage disorders C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The Metabolic and Molecular Basis of Inherited Disease 2001 McGraw-Hill New York 5085 5108
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 5085-5108
-
-
Gahl, W.A.1
Schneider, J.A.2
Aula, P.3
-
2
-
-
0031945551
-
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
-
M. Town, G. Jean, S. Cherqui, M. Attard, L. Forestier, S.A. Whitmore, D.F. Callen, O. Gribouval, M. Broyer, G.P. Bates, W. van't Hoff, and C. Antignac A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis Nat. Genet. 18 1998 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
Van'T Hoff, W.11
Antignac, C.12
-
3
-
-
0035503565
-
Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter
-
V. Kalatzis, S. Cherqui, C. Antignac, and B. Gasnier Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter EMBO J. 20 2001 5940 5949
-
(2001)
EMBO J.
, vol.20
, pp. 5940-5949
-
-
Kalatzis, V.1
Cherqui, S.2
Antignac, C.3
Gasnier, B.4
-
4
-
-
0023150727
-
Cysteamine therapy for children with nephropathic cystinosis
-
W.A. Gahl, G.F. Reed, J.G. Thoene, J.D. Schulman, W.B. Rizzo, A.J. Jonas, D.W. Denman, J.J. Schlesselman, B.J. Corden, and J.A. Schneider Cysteamine therapy for children with nephropathic cystinosis N. Engl. J. Med. 316 1987 971 977
-
(1987)
N. Engl. J. Med.
, vol.316
, pp. 971-977
-
-
Gahl, W.A.1
Reed, G.F.2
Thoene, J.G.3
Schulman, J.D.4
Rizzo, W.B.5
Jonas, A.J.6
Denman, D.W.7
Schlesselman, J.J.8
Corden, B.J.9
Schneider, J.A.10
-
5
-
-
0015026170
-
Cystinosis. An ultrastructural and electron-probe study of the kidney with unusual findings
-
G.S. Spear, R.J. Slusser, A.J. Tousimis, C.G. Taylor, and J.D. Schulman Cystinosis. An ultrastructural and electron-probe study of the kidney with unusual findings Arch. Pathol. 91 1971 206 221
-
(1971)
Arch. Pathol.
, vol.91
, pp. 206-221
-
-
Spear, G.S.1
Slusser, R.J.2
Tousimis, A.J.3
Taylor, C.G.4
Schulman, J.D.5
-
6
-
-
0028330020
-
Intracellular distribution of cystine in cystine-loaded proximal tubules
-
A. Sakarcan, C. Timmons, and M. Baum Intracellular distribution of cystine in cystine-loaded proximal tubules Pediatr. Res. 35 1994 447 450
-
(1994)
Pediatr. Res.
, vol.35
, pp. 447-450
-
-
Sakarcan, A.1
Timmons, C.2
Baum, M.3
-
7
-
-
0036837663
-
Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis
-
S. Cherqui, C. Sevin, G. Hamard, V. Kalatzis, M. Sich, M.O. Pequignot, K. Gogat, M. Abitbol, M. Broyer, M.C. Gubler, and C. Antignac Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis Mol. Cell. Biol. 22 2002 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
Antignac, C.11
-
8
-
-
0025905226
-
Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading
-
C. Coor, R.F. Salmon, R. Quigley, D. Marver, and M. Baum Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading J. Clin. Invest. 87 1991 955 961
-
(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
-
9
-
-
0025613863
-
Effect of cystine loading and cystine dimethylester on renal brushborder membrane transport
-
J.W. Foreman, and L. Benson Effect of cystine loading and cystine dimethylester on renal brushborder membrane transport Biosci. Rep. 10 1990 455 459
-
(1990)
Biosci. Rep.
, vol.10
, pp. 455-459
-
-
Foreman, J.W.1
Benson, L.2
-
10
-
-
0029164566
-
Metabolic studies of rat renal tubule cells loaded with cystine: The cystine dimethylester model of cystinosis
-
J.W. Foreman, L.L. Benson, M. Wellons, E.D. Avner, W. Sweeney, and I. Nissim Metabolic studies of rat renal tubule cells loaded with cystine: the cystine dimethylester model of cystinosis J. Am. Soc. Nephrol. 6 1995 269 272
-
(1995)
J. Am. Soc. Nephrol.
, vol.6
, pp. 269-272
-
-
Foreman, J.W.1
Benson, L.L.2
Wellons, M.3
Avner, E.D.4
Sweeney, W.5
Nissim, I.6
-
11
-
-
0026494516
-
Intracellular cystine loading causes proximal tubule respiratory dysfunction: Effect of glycine
-
A. Sakarcan, R. Aricheta, and M. Baum Intracellular cystine loading causes proximal tubule respiratory dysfunction: effect of glycine Pediatr. Res. 32 1992 710 713
-
(1992)
Pediatr. Res.
, vol.32
, pp. 710-713
-
-
Sakarcan, A.1
Aricheta, R.2
Baum, M.3
-
12
-
-
0025117493
-
Intracellular cystine loading inhibits transport in the rabbit proximal convoluted tubule
-
R.F. Salmon, and M. Baum Intracellular cystine loading inhibits transport in the rabbit proximal convoluted tubule J. Clin. Invest. 85 1990 340 344
-
(1990)
J. Clin. Invest.
, vol.85
, pp. 340-344
-
-
Salmon, R.F.1
Baum, M.2
-
13
-
-
0022386654
-
Altered oxidative metabolism, motility, and adherence in phagocytic cells from cystinotic children
-
G. Pintos Morell, P. Niaudet, G. Jean, and B. Descamps-Latscha Altered oxidative metabolism, motility, and adherence in phagocytic cells from cystinotic children Pediatr. Res. 19 1985 1318 1321
-
(1985)
Pediatr. Res.
, vol.19
, pp. 1318-1321
-
-
Pintos Morell, G.1
Niaudet, P.2
Jean, G.3
Descamps-Latscha, B.4
-
14
-
-
0023404585
-
Glutathione metabolism in normal and cystinotic fibroblasts
-
J.D. Butler, J.D. Key, B.F. Hughes, F. Tietze, D.S. Raiford, G.F. Reed, P.M. Brannon, S.P. Spielberg, and J.D. Schulman Glutathione metabolism in normal and cystinotic fibroblasts Exp. Cell Res. 172 1987 158 167
-
(1987)
Exp. Cell Res.
, vol.172
, pp. 158-167
-
-
Butler, J.D.1
Key, J.D.2
Hughes, B.F.3
Tietze, F.4
Raiford, D.S.5
Reed, G.F.6
Brannon, P.M.7
Spielberg, S.P.8
Schulman, J.D.9
-
15
-
-
0017891499
-
Thioredoxin and glutathione in cultured fibroblasts from human cases with 5-oxoprolinuria and cystinosis
-
A. Larsson, A. Holmgren, and I. Bratt Thioredoxin and glutathione in cultured fibroblasts from human cases with 5-oxoprolinuria and cystinosis FEBS Lett. 87 1978 61 64
-
(1978)
FEBS Lett.
, vol.87
, pp. 61-64
-
-
Larsson, A.1
Holmgren, A.2
Bratt, I.3
-
16
-
-
0015306403
-
Cystine, cysteine, and glutathione metabolism in normal and cystinotic fibroblasts in vitro, and in cultured normal amniotic fluid cells
-
J.D. Schulman, J.A. Schneider, K.H. Bradley, and J.E. Seegmiller Cystine, cysteine, and glutathione metabolism in normal and cystinotic fibroblasts in vitro, and in cultured normal amniotic fluid cells Clin. Chim. Acta 37 1972 53 58
-
(1972)
Clin. Chim. Acta
, vol.37
, pp. 53-58
-
-
Schulman, J.D.1
Schneider, J.A.2
Bradley, K.H.3
Seegmiller, J.E.4
-
17
-
-
0017834078
-
Glutathione in fibroblasts from normal and cystinotic children
-
B. States, K. Scardigli, and S. Segal Glutathione in fibroblasts from normal and cystinotic children Life Sci. 22 1978 31 37
-
(1978)
Life Sci.
, vol.22
, pp. 31-37
-
-
States, B.1
Scardigli, K.2
Segal, S.3
-
18
-
-
0036451656
-
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis
-
V. Kalatzis, L. Cohen-Solal, B. Cordier, Y. Frishberg, M. Kemper, E.M. Nuutinen, E. Legrand, P. Cochat, and C. Antignac Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis Hum. Mutat. 20 2002 439 446
-
(2002)
Hum. Mutat.
, vol.20
, pp. 439-446
-
-
Kalatzis, V.1
Cohen-Solal, L.2
Cordier, B.3
Frishberg, Y.4
Kemper, M.5
Nuutinen, E.M.6
Legrand, E.7
Cochat, P.8
Antignac, C.9
-
19
-
-
0032231835
-
CTNS mutations in an American-based population of cystinosis patients
-
V. Shotelersuk, D. Larson, Y. Anikster, G. McDowell, R. Lemons, I. Bernardini, J. Guo, J. Thoene, and W.A. Gahl CTNS mutations in an American-based population of cystinosis patients Am. J. Hum. Genet. 63 1998 1352 1362
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1352-1362
-
-
Shotelersuk, V.1
Larson, D.2
Anikster, Y.3
McDowell, G.4
Lemons, R.5
Bernardini, I.6
Guo, J.7
Thoene, J.8
Gahl, W.A.9
-
20
-
-
0029122255
-
Renal proximal tubular epithelium from patients with nephropathic cystinosis: Immortalized cell lines as in vitro model systems
-
L.C. Racusen, P.D. Wilson, P.A. Hartz, B.A. Fivush, and C.R. Burrow Renal proximal tubular epithelium from patients with nephropathic cystinosis: immortalized cell lines as in vitro model systems Kidney Int. 48 1995 536 543
-
(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
-
21
-
-
0016174573
-
Binding assays for amino acids. The utilization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples
-
R.G. Oshima, R.C. Willis, C.E. Furlong, and J.A. Schneider Binding assays for amino acids. The utilization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples J. Biol. Chem. 249 1974 6033 6039
-
(1974)
J. Biol. Chem.
, vol.249
, pp. 6033-6039
-
-
Oshima, R.G.1
Willis, R.C.2
Furlong, C.E.3
Schneider, J.A.4
-
23
-
-
0016272750
-
Involvement of the superoxide anion radical in the autoxidation of pyrogallol and a convenient assay for superoxide dismutase
-
S. Marklund, and G. Marklund Involvement of the superoxide anion radical in the autoxidation of pyrogallol and a convenient assay for superoxide dismutase Eur. J. Biochem. 47 1974 469 474
-
(1974)
Eur. J. Biochem.
, vol.47
, pp. 469-474
-
-
Marklund, S.1
Marklund, G.2
-
25
-
-
0027931039
-
Biochemical and molecular investigations in respiratory chain deficiencies
-
P. Rustin, D. Chretien, T. Bourgeron, B. Gerard, A. Rotig, J.M. Saudubray, and A. Munnich Biochemical and molecular investigations in respiratory chain deficiencies Clin. Chim. Acta 228 1994 35 51
-
(1994)
Clin. Chim. Acta
, vol.228
, pp. 35-51
-
-
Rustin, P.1
Chretien, D.2
Bourgeron, T.3
Gerard, B.4
Rotig, A.5
Saudubray, J.M.6
Munnich, A.7
-
26
-
-
0001525440
-
An enzymatic approach to the study of the KREBS tricarboxylic acid cycle
-
V.M. Darley-Usmar D. Rickwood M.T. Wilson IRL Oxford
-
J.B. Robinson, L.G. Brent, B. Sumegi, and P.A. Srere An enzymatic approach to the study of the KREBS tricarboxylic acid cycle V.M. Darley-Usmar D. Rickwood M.T. Wilson Mitochondria 1987 IRL Oxford 153 170
-
(1987)
Mitochondria
, pp. 153-170
-
-
Robinson, J.B.1
Brent, L.G.2
Sumegi, B.3
Srere, P.A.4
-
27
-
-
0017184389
-
A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
-
M.M. Bradford A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding Anal. Biochem. 72 1976 248 254
-
(1976)
Anal. Biochem.
, vol.72
, pp. 248-254
-
-
Bradford, M.M.1
-
28
-
-
0035872917
-
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA
-
V. Geromel, N. Kadhom, I. Cebalos-Picot, O. Ouari, A. Polidori, A. Munnich, A. Rotig, and P. Rustin Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA Hum. Mol. Genet. 10 2001 1221 1228
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1221-1228
-
-
Geromel, V.1
Kadhom, N.2
Cebalos-Picot, I.3
Ouari, O.4
Polidori, A.5
Munnich, A.6
Rotig, A.7
Rustin, P.8
|