-
3
-
-
0037393446
-
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human
-
Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A & Vacher J (2003). Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat Med 9, 399-406.
-
(2003)
Nat Med
, vol.9
, pp. 399-406
-
-
Chalhoub, N.1
Benachenhou, N.2
Rajapurohitam, V.3
Pata, M.4
Ferron, M.5
Frattini, A.6
Villa, A.7
Vacher, J.8
-
4
-
-
18244389008
-
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene
-
Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC & Van Hul W (2001). Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet 10, 2861-2867.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2861-2867
-
-
Cleiren, E.1
Benichou, O.2
Van Hul, E.3
Gram, J.4
Bollerslev, J.5
Singer, F.R.6
Beaverson, K.7
Aledo, A.8
Whyte, M.P.9
Yoneyama, T.10
deVernejoul, M.C.11
Van Hul, W.12
-
5
-
-
33747858034
-
The nitrate/proton antiporter AtCLCa mediates nitrate accumulation in plant vacuoles
-
De Angeli A, Monachello D, Ephritikhine G, Frachisse JM, Thomine S, Gambale F & Barbier-Brygoo H (2006). The nitrate/proton antiporter AtCLCa mediates nitrate accumulation in plant vacuoles. Nature 442, 939-942.
-
(2006)
Nature
, vol.442
, pp. 939-942
-
-
De Angeli, A.1
Monachello, D.2
Ephritikhine, G.3
Frachisse, J.M.4
Thomine, S.5
Gambale, F.6
Barbier-Brygoo, H.7
-
6
-
-
0031456376
-
Molecular identification of a volume-regulated chloride channel
-
Duan D, Winter C, Cowley S, Hume JR & Horowitz B (1997). Molecular identification of a volume-regulated chloride channel. Nature 390, 417-421.
-
(1997)
Nature
, vol.390
, pp. 417-421
-
-
Duan, D.1
Winter, C.2
Cowley, S.3
Hume, J.R.4
Horowitz, B.5
-
7
-
-
0037122805
-
X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity
-
Dutzler R, Campbell EB, Cadene M, Chait BT & MacKinnon R (2002). X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 415, 287-294.
-
(2002)
Nature
, vol.415
, pp. 287-294
-
-
Dutzler, R.1
Campbell, E.B.2
Cadene, M.3
Chait, B.T.4
MacKinnon, R.5
-
8
-
-
0035969520
-
+ -secretion
-
+-secretion. Nature 414, 558-561.
-
(2001)
Nature
, vol.414
, pp. 558-561
-
-
Estévez, R.1
Boettger, T.2
Stein, V.3
Birkenhäger, R.4
Otto, M.5
Hildebrandt, F.6
Jentsch, T.J.7
-
9
-
-
0033946477
-
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
-
Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P & Villa A (2000). Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 25, 343-346.
-
(2000)
Nat Genet
, vol.25
, pp. 343-346
-
-
Frattini, A.1
Orchard, P.J.2
Sobacchi, C.3
Giliani, S.4
Abinun, M.5
Mattsson, J.P.6
Keeling, D.J.7
Andersson, A.K.8
Wallbrandt, P.9
Zecca, L.10
Notarangelo, L.D.11
Vezzoni, P.12
Villa, A.13
-
10
-
-
0033534733
-
Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents
-
Friedrich T, Breiderhoff T & Jentsch TJ (1999). Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents. J Biol Chem 274, 896-902.
-
(1999)
J Biol Chem
, vol.274
, pp. 896-902
-
-
Friedrich, T.1
Breiderhoff, T.2
Jentsch, T.J.3
-
11
-
-
0032493276
-
ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells
-
Günther W, Lüchow A, Cluzeaud F, Vandewalle A & Jentsch TJ (1998). ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc Natl Acad Sci U S A 95, 8075-8080.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 8075-8080
-
-
Günther, W.1
Lüchow, A.2
Cluzeaud, F.3
Vandewalle, A.4
Jentsch, T.J.5
-
12
-
-
0037274891
-
The ClC-5 chloride channel knock-out mouse - An animal model for Dent's disease
-
Günther W, Piwon N & Jentsch TJ (2003). The ClC-5 chloride channel knock-out mouse -an animal model for Dent's disease. Pflugers Arch 445, 456-462.
-
(2003)
Pflugers Arch
, vol.445
, pp. 456-462
-
-
Günther, W.1
Piwon, N.2
Jentsch, T.J.3
-
13
-
-
14844293074
-
Impaired acidification in early endosomes of ClC-5 deficient proximal tubule
-
Hara-Chikuma M, Wang Y, Guggino SE, Guggino WB & Verkman AS (2005 a). Impaired acidification in early endosomes of ClC-5 deficient proximal tubule. Biochem Biophys Res Commun 329, 941-946.
-
(2005)
Biochem Biophys Res Commun
, vol.329
, pp. 941-946
-
-
Hara-Chikuma, M.1
Wang, Y.2
Guggino, S.E.3
Guggino, W.B.4
Verkman, A.S.5
-
14
-
-
12544249991
-
ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation
-
Hara-Chikuma M, Yang B, Sonawane ND, Sasaki S, Uchida S & Verkman AS (2005 b). ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation. J Biol Chem 280, 1241-1247.
-
(2005)
J Biol Chem
, vol.280
, pp. 1241-1247
-
-
Hara-Chikuma, M.1
Yang, B.2
Sonawane, N.D.3
Sasaki, S.4
Uchida, S.5
Verkman, A.S.6
-
16
-
-
0025200567
-
Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes
-
Jentsch TJ, Steinmeyer K & Schwarz G (1990). Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes. Nature 348, 510-514.
-
(1990)
Nature
, vol.348
, pp. 510-514
-
-
Jentsch, T.J.1
Steinmeyer, K.2
Schwarz, G.3
-
17
-
-
20144387287
-
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration
-
Kasper D, Planells-Cases R, Fuhrmann JC, Scheel O, Zeitz O, Ruether K, Schmitt A, Poët M, Steinfeld R, Schweizer M, Kornak U & Jentsch TJ (2005). Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. EMBO J 24, 1079-1091.
-
(2005)
EMBO J
, vol.24
, pp. 1079-1091
-
-
Kasper, D.1
Planells-Cases, R.2
Fuhrmann, J.C.3
Scheel, O.4
Zeitz, O.5
Ruether, K.6
Schmitt, A.7
Poët, M.8
Steinfeld, R.9
Schweizer, M.10
Kornak, U.11
Jentsch, T.J.12
-
18
-
-
0035951282
-
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man
-
Kornak U, Kasper D, Bösl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G & Jentsch TJ (2001). Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104, 205-215.
-
(2001)
Cell
, vol.104
, pp. 205-215
-
-
Kornak, U.1
Kasper, D.2
Bösl, M.R.3
Kaiser, E.4
Schweizer, M.5
Schulz, A.6
Friedrich, W.7
Delling, G.8
Jentsch, T.J.9
-
19
-
-
0034641590
-
+ -ATPase cause infantile malignant osteopetrosis
-
+-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet 9, 2059-2063.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2059-2063
-
-
Kornak, U.1
Schulz, A.2
Friedrich, W.3
Uhlhaas, S.4
Kremens, B.5
Voit, T.6
Hasan, C.7
Bode, U.8
Jentsch, T.J.9
Kubisch, C.10
-
20
-
-
33644861728
-
ClC-7 requires Ostm1 as a β-subunit to support bone resorption and lysosomal function
-
Lange PF, Wartosch L, Jentsch TJ & Fuhrmann JC (2006). ClC-7 requires Ostm1 as a β-subunit to support bone resorption and lysosomal function. Nature 440, 220-223.
-
(2006)
Nature
, vol.440
, pp. 220-223
-
-
Lange, P.F.1
Wartosch, L.2
Jentsch, T.J.3
Fuhrmann, J.C.4
-
21
-
-
0034680866
-
Biophysical properties of ClC-3 differentiate it from swelling- activated chloride channels in chinese hamster ovary-K1 cells
-
Li X, Shimada K, Showalter LA & Weinman SA (2000). Biophysical properties of ClC-3 differentiate it from swelling- activated chloride channels in chinese hamster ovary-K1 cells. J Biol Chem 275, 35994-35998.
-
(2000)
J Biol Chem
, vol.275
, pp. 35994-35998
-
-
Li, X.1
Shimada, K.2
Showalter, L.A.3
Weinman, S.A.4
-
22
-
-
0036086313
-
The ClC-3 chloride channel promotes acidification of lysosomes in CHO-K1 and Huh-7 cells
-
Li X, Wang T, Zhao Z & Weinman SA (2002). The ClC-3 chloride channel promotes acidification of lysosomes in CHO-K1 and Huh-7 cells. Am J Physiol Cell Physiol 282, C1483-C1491.
-
(2002)
Am J Physiol Cell Physiol
, vol.282
-
-
Li, X.1
Wang, T.2
Zhao, Z.3
Weinman, S.A.4
-
23
-
-
13344286321
-
A common molecular basis for three inherited kidney stone diseases
-
Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW & Thakker RV (1996). A common molecular basis for three inherited kidney stone diseases. Nature 379, 445-449.
-
(1996)
Nature
, vol.379
, pp. 445-449
-
-
Lloyd, S.E.1
Pearce, S.H.2
Fisher, S.E.3
Steinmeyer, K.4
Schwappach, B.5
Scheinman, S.J.6
Harding, B.7
Bolino, A.8
Devoto, M.9
Goodyer, P.10
Rigden, S.P.11
Wrong, O.12
Jentsch, T.J.13
Craig, I.W.14
Thakker, R.V.15
-
24
-
-
0029843417
-
Heteromultimeric CLC chloride channels with novel properties
-
Lorenz C, Pusch M & Jentsch TJ (1996). Heteromultimeric CLC chloride channels with novel properties. Proc Natl Acad Sci U S A 93, 13362-13366.
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 13362-13366
-
-
Lorenz, C.1
Pusch, M.2
Jentsch, T.J.3
-
25
-
-
0029743660
-
Two physically distinct pores in the dimeric ClC-0 chloride channel
-
Ludewig U, Pusch M & Jentsch TJ (1996). Two physically distinct pores in the dimeric ClC-0 chloride channel. Nature 383, 340-343.
-
(1996)
Nature
, vol.383
, pp. 340-343
-
-
Ludewig, U.1
Pusch, M.2
Jentsch, T.J.3
-
27
-
-
0029661878
-
Homodimeric architecture of a ClC-type chloride ion channel
-
Middleton RE, Pheasant DJ & Miller C (1996). Homodimeric architecture of a ClC-type chloride ion channel. Nature 383, 337-340.
-
(1996)
Nature
, vol.383
, pp. 337-340
-
-
Middleton, R.E.1
Pheasant, D.J.2
Miller, C.3
-
28
-
-
22944475536
-
Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5
-
Picollo A & Pusch M (2005). Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. Nature 436, 420-423.
-
(2005)
Nature
, vol.436
, pp. 420-423
-
-
Picollo, A.1
Pusch, M.2
-
30
-
-
33748779034
-
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6
-
Poët M, Kornak U, Schweizer M, Zdebik AA, Scheel O, Hoelter S, Wurst W, Schmitt A, Fuhrmann JC, Planells-Cases R, Mole SE, Hübner CA & Jentsch TJ (2006). Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Proc Natl Acad Sci U S A 103, 13854-13859.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 13854-13859
-
-
Poët, M.1
Kornak, U.2
Schweizer, M.3
Zdebik, A.A.4
Scheel, O.5
Hoelter, S.6
Wurst, W.7
Schmitt, A.8
Fuhrmann, J.C.9
Planells-Cases, R.10
Mole, S.E.11
Hübner, C.A.12
Jentsch, T.J.13
-
31
-
-
22944479662
-
Voltage-dependent electrogenic chloride proton exchange by endosomal CLC proteins
-
Scheel O, Zdebik A, Lourdel S & Jentsch TJ (2005). Voltage-dependent electrogenic chloride proton exchange by endosomal CLC proteins. Nature 436, 424-427.
-
(2005)
Nature
, vol.436
, pp. 424-427
-
-
Scheel, O.1
Zdebik, A.2
Lourdel, S.3
Jentsch, T.J.4
-
32
-
-
0031888274
-
X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations
-
Scheinman SJ (1998). X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations. Kidney Int 53, 3-17.
-
(1998)
Kidney Int
, vol.53
, pp. 3-17
-
-
Scheinman, S.J.1
-
33
-
-
17744375755
-
Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus
-
Stobrawa SM, Breiderhoff T, Takamori S, Engel D, Schweizer M, Zdebik AA, Bösl MR, Ruether K, Jahn H, Draguhn A, Jahn R & Jentsch TJ (2001). Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus. Neuron 29, 185-196.
-
(2001)
Neuron
, vol.29
, pp. 185-196
-
-
Stobrawa, S.M.1
Breiderhoff, T.2
Takamori, S.3
Engel, D.4
Schweizer, M.5
Zdebik, A.A.6
Bösl, M.R.7
Ruether, K.8
Jahn, H.9
Draguhn, A.10
Jahn, R.11
Jentsch, T.J.12
-
34
-
-
31944449588
-
Intracellular localization of ClC chloride channels and their ability to form hetero-oligomers
-
Suzuki T, Rai T, Hayama A, Sohara E, Suda S, Itoh T, Sasaki S & Uchida S (2006). Intracellular localization of ClC chloride channels and their ability to form hetero-oligomers. J Cell Physiol 206, 792-798.
-
(2006)
J Cell Physiol
, vol.206
, pp. 792-798
-
-
Suzuki, T.1
Rai, T.2
Hayama, A.3
Sohara, E.4
Suda, S.5
Itoh, T.6
Sasaki, S.7
Uchida, S.8
-
35
-
-
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 SS, Devuyst O, Courtoy PJ, Wang XT, Wang H, Wang Y, Thakker RV, Guggino S & Guggino WB (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
-
36
-
-
33749643840
-
CLC-3 channels modulate excitatory synaptic transmission in hippocampal neurons
-
Wang XQ, Deriy LV, Foss S, Huang P, Lamb FS, Kaetzel MA, Bindokas V, Marks JD & Nelson DJ (2006). CLC-3 channels modulate excitatory synaptic transmission in hippocampal neurons. Neuron 52, 321-333.
-
(2006)
Neuron
, vol.52
, pp. 321-333
-
-
Wang, X.Q.1
Deriy, L.V.2
Foss, S.3
Huang, P.4
Lamb, F.S.5
Kaetzel, M.A.6
Bindokas, V.7
Marks, J.D.8
Nelson, D.J.9
-
37
-
-
0035951822
-
Pores formed by single subunits in mixed dimers of different CLC chloride channels
-
Weinreich F & Jentsch TJ (2001). Pores formed by single subunits in mixed dimers of different CLC chloride channels. J Biol Chem 276, 2347-2353.
-
(2001)
J Biol Chem
, vol.276
, pp. 2347-2353
-
-
Weinreich, F.1
Jentsch, T.J.2
-
38
-
-
0035998271
-
CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis
-
Yoshikawa M, Uchida S, Ezaki J, Rai T, Hayama A, Kobayashi K, Kida Y, Noda M, Koike M, Uchiyama Y, Marumo F, Kominami E & Sasaki S (2002). CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. Genes Cells 7, 597-605.
-
(2002)
Genes Cells
, vol.7
, pp. 597-605
-
-
Yoshikawa, M.1
Uchida, S.2
Ezaki, J.3
Rai, T.4
Hayama, A.5
Kobayashi, K.6
Kida, Y.7
Noda, M.8
Koike, M.9
Uchiyama, Y.10
Marumo, F.11
Kominami, E.12
Sasaki, S.13
|