-
1
-
-
0033822172
-
Identification of the gene causing mucolipidosis type IV
-
R Bargal N Avidan E Ben-Asher Z Olender M Zeigler A Frumkin A Raas-Rothschild G Glusman D Lancet G Bach 2000 Identification of the gene causing mucolipidosis type IV Nat Genet 26 118 123
-
(2000)
Nat Genet
, vol.26
, pp. 118-123
-
-
Bargal, R.1
Avidan, N.2
Ben-Asher, E.3
Olender, Z.4
Zeigler, M.5
Frumkin, A.6
Raas-Rothschild, A.7
Glusman, G.8
Lancet, D.9
Bach, G.10
-
2
-
-
0033760264
-
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV
-
MT Bassi M Manzoni E Monti MT Pizzo A Ballabio G Borsani 2000 Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV Am J Hum Genet 67 1110 1120
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1110-1120
-
-
Bassi, M.T.1
Manzoni, M.2
Monti, E.3
Pizzo, M.T.4
Ballabio, A.5
Borsani, G.6
-
3
-
-
33646045075
-
TRPA1 mediates the inflammatory actions of environmental irritants and proalgesic agents
-
DM Bautista SE Jordt T Nikai PR Tsuruda AJ Read J Poblete EN Yamoah AI Basbaum D Julius 2006 TRPA1 mediates the inflammatory actions of environmental irritants and proalgesic agents Cell 124 1269 1282
-
(2006)
Cell
, vol.124
, pp. 1269-1282
-
-
Bautista, D.M.1
Jordt, S.E.2
Nikai, T.3
Tsuruda, P.R.4
Read, A.J.5
Poblete, J.6
Yamoah, E.N.7
Basbaum, A.I.8
Julius, D.9
-
4
-
-
0032168847
-
Combined cochleo-saccular and neuroepithelial abnormalities in the varitint-waddler-J (VaJ) mouse
-
J Cable KP Steel 1998 Combined cochleo-saccular and neuroepithelial abnormalities in the varitint-waddler-J (VaJ) mouse Hear Res 123 125 136
-
(1998)
Hear Res
, vol.123
, pp. 125-136
-
-
Cable, J.1
Steel, K.P.2
-
7
-
-
0015274953
-
Neurochemical correlates of the waltzing-shaker syndrome in the varitint-waddler mouse
-
AR Cools 1972 Neurochemical correlates of the waltzing-shaker syndrome in the varitint-waddler mouse Psychopharmacologia 24 384 396
-
(1972)
Psychopharmacologia
, vol.24
, pp. 384-396
-
-
Cools, A.R.1
-
8
-
-
0036430199
-
Proline-induced distortions of transmembrane helices
-
FS Cordes JN Bright MS Sansom 2002 Proline-induced distortions of transmembrane helices J Mol Biol 323 951 960
-
(2002)
J Mol Biol
, vol.323
, pp. 951-960
-
-
Cordes, F.S.1
Bright, J.N.2
Sansom, M.S.3
-
9
-
-
10644290199
-
TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells
-
DP Corey J Garcia-Anoveros JR Holt KY Kwan SY Lin MA Vollrath A Amalfitano EL Cheung BH Derfler A Duggan GS Geleoc PA Gray MP Hoffman HL Rehm D Tamasauskas DS Zhang 2004 TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells Nature 432 723 730
-
(2004)
Nature
, vol.432
, pp. 723-730
-
-
Corey, D.P.1
Garcia-Anoveros, J.2
Holt, J.R.3
Kwan, K.Y.4
Lin, S.Y.5
Vollrath, M.A.6
Amalfitano, A.7
Cheung, E.L.8
Derfler, B.H.9
Duggan, A.10
Geleoc, G.S.11
Gray, P.A.12
Hoffman, M.P.13
Rehm, H.L.14
Tamasauskas, D.15
Zhang, D.S.16
-
10
-
-
34547419076
-
TRP channels as candidates for hearing and balance abnormalities in vertebrates
-
MP Cuajungco C Grimm S Heller 2007 TRP channels as candidates for hearing and balance abnormalities in vertebrates Biochim Biophys Acta 1772 1022 1077
-
(2007)
Biochim Biophys Acta
, vol.1772
, pp. 1022-1077
-
-
Cuajungco, M.P.1
Grimm, C.2
Heller, S.3
-
12
-
-
1342325396
-
Outer pore topology of the ECaC-TRPV5 channel by cysteine scan mutagenesis
-
Y Dodier U Banderali H Klein O Topalak O Dafi M Simoes G Bernatchez R Sauve L Parent 2004 Outer pore topology of the ECaC-TRPV5 channel by cysteine scan mutagenesis J Biol Chem 279 6853 6862
-
(2004)
J Biol Chem
, vol.279
, pp. 6853-6862
-
-
Dodier, Y.1
Banderali, U.2
Klein, H.3
Topalak, O.4
Dafi, O.5
Simoes, M.6
Bernatchez, G.7
Sauve, R.8
Parent, L.9
-
13
-
-
37649014647
-
A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse
-
C Grimm MP Cuajungco AF van Aken M Schnee S Jors CJ Kros AJ Ricci S Heller 2007 A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse Proc Natl Acad Sci USA 104 19583 19588
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 19583-19588
-
-
Grimm, C.1
Cuajungco, M.P.2
Van Aken, A.F.3
Schnee, M.4
Jors, S.5
Kros, C.J.6
Ricci, A.J.7
Heller, S.8
-
14
-
-
0031473847
-
SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling
-
N Guex MC Peitsch 1997 SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling Electrophoresis 18 2714 2723
-
(1997)
Electrophoresis
, vol.18
, pp. 2714-2723
-
-
Guex, N.1
Peitsch, M.C.2
-
15
-
-
34548586988
-
Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs
-
C Karacsonyi AS Miguel R Puertollano 2007 Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs Traffic 8 1404 1414
-
(2007)
Traffic
, vol.8
, pp. 1404-1414
-
-
Karacsonyi, C.1
Miguel, A.S.2
Puertollano, R.3
-
16
-
-
0028847329
-
Defective B cell development and function in Btk-deficient mice
-
WN Khan FW Alt RM Gerstein BA Malynn I Larsson G Rathbun L Davidson S Muller AB Kantor LA Herzenberg 1995 Defective B cell development and function in Btk-deficient mice Immunity 3 283 299
-
(1995)
Immunity
, vol.3
, pp. 283-299
-
-
Khan, W.N.1
Alt, F.W.2
Gerstein, R.M.3
Malynn, B.A.4
Larsson, I.5
Rathbun, G.6
Davidson, L.7
Muller, S.8
Kantor, A.B.9
Herzenberg, L.A.10
-
17
-
-
0037345634
-
Genetic analyses of the mouse deafness mutations varitint-waddler (Va) and jerker (Espnje)
-
HJ Kim T Jackson K Noben-Trauth 2003 Genetic analyses of the mouse deafness mutations varitint-waddler (Va) and jerker (Espnje) J Assoc Res Otolaryngol 4 83 90
-
(2003)
J Assoc Res Otolaryngol
, vol.4
, pp. 83-90
-
-
Kim, H.J.1
Jackson, T.2
Noben-Trauth, K.3
-
20
-
-
30044439235
-
TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage
-
K Kiselyov J Chen Y Rbaibi D Oberdick S Tjon-Kon-Sang N Shcheynikov S Muallem A Soyombo 2005 TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage J Biol Chem 280 43218 43223
-
(2005)
J Biol Chem
, vol.280
, pp. 43218-43223
-
-
Kiselyov, K.1
Chen, J.2
Rbaibi, Y.3
Oberdick, D.4
Tjon-Kon-Sang, S.5
Shcheynikov, N.6
Muallem, S.7
Soyombo, A.8
-
22
-
-
18744363612
-
Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway
-
JM LaPlante J Falardeau M Sun M Kanazirska EM Brown SA Slaugenhaupt PM Vassilev 2002 Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway FEBS Lett 532 183 187
-
(2002)
FEBS Lett
, vol.532
, pp. 183-187
-
-
Laplante, J.M.1
Falardeau, J.2
Sun, M.3
Kanazirska, M.4
Brown, E.M.5
Slaugenhaupt, S.A.6
Vassilev, P.M.7
-
25
-
-
26944450881
-
Differential expression and molecular characterisation of Lmo7, Myo1e, Sash1, and Mcoln2 genes in Btk-defective B-cells
-
JM Lindvall KE Blomberg A Wennborg CI Smith 2005 Differential expression and molecular characterisation of Lmo7, Myo1e, Sash1, and Mcoln2 genes in Btk-defective B-cells Cell Immunol 235 46 55
-
(2005)
Cell Immunol
, vol.235
, pp. 46-55
-
-
Lindvall, J.M.1
Blomberg, K.E.2
Wennborg, A.3
Smith, C.I.4
-
26
-
-
23244441222
-
Voltage sensor of Kv1.2: Structural basis of electromechanical coupling
-
SB Long EB Campbell R Mackinnon 2005 Voltage sensor of Kv1.2: structural basis of electromechanical coupling Science 309 903 908
-
(2005)
Science
, vol.309
, pp. 903-908
-
-
Long, S.B.1
Campbell, E.B.2
MacKinnon, R.3
-
27
-
-
33744963797
-
Posttranslational cleavage and adaptor protein complex-dependent trafficking of mucolipin-1
-
MT Miedel KM Weixel JR Bruns LM Traub OA Weisz 2006 Posttranslational cleavage and adaptor protein complex-dependent trafficking of mucolipin-1 J Biol Chem 281 12751 12759
-
(2006)
J Biol Chem
, vol.281
, pp. 12751-12759
-
-
Miedel, M.T.1
Weixel, K.M.2
Bruns, J.R.3
Traub, L.M.4
Weisz, O.A.5
-
28
-
-
33644875032
-
The TRP superfamily of cation channels
-
272
-
C Montell 2005 The TRP superfamily of cation channels Sci STKE 2005 272 re3
-
(2005)
Sci STKE
, vol.2005
, pp. 3
-
-
Montell, C.1
-
29
-
-
38349104748
-
The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration
-
K Nagata L Zheng T Madathany AJ Castiglioni JR Bartles J Garcia-Anoveros 2008 The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration Proc Natl Acad Sci USA 105 353 358
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 353-358
-
-
Nagata, K.1
Zheng, L.2
Madathany, T.3
Castiglioni, A.J.4
Bartles, J.R.5
Garcia-Anoveros, J.6
-
31
-
-
26444591482
-
TRP channels: A TR(I)P through a world of multifunctional cation channels
-
B Nilius T Voets 2005 TRP channels: a TR(I)P through a world of multifunctional cation channels Pflugers Arch 451 1 10
-
(2005)
Pflugers Arch
, vol.451
, pp. 1-10
-
-
Nilius, B.1
Voets, T.2
-
32
-
-
0034623005
-
T-Coffee: A novel method for fast and accurate multiple sequence alignment
-
C Notredame DG Higgins J Heringa 2000 T-Coffee: a novel method for fast and accurate multiple sequence alignment J Mol Biol 302 205 217
-
(2000)
J Mol Biol
, vol.302
, pp. 205-217
-
-
Notredame, C.1
Higgins, D.G.2
Heringa, J.3
-
34
-
-
33748572921
-
Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic
-
PR Pryor F Reimann FM Gribble JP Luzio 2006 Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic Traffic 7 1388 1398
-
(2006)
Traffic
, vol.7
, pp. 1388-1398
-
-
Pryor, P.R.1
Reimann, F.2
Gribble, F.M.3
Luzio, J.P.4
-
35
-
-
12144285845
-
Molecular pathophysiology of mucolipidosis type IV: PH dysregulation of the mucolipin-1 cation channel
-
MK Raychowdhury S Gonzalez-Perrett N Montalbetti GA Timpanaro B Chasan WH Goldmann S Stahl A Cooney E Goldin HF Cantiello 2004 Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel Hum Mol Genet 13 617 627
-
(2004)
Hum Mol Genet
, vol.13
, pp. 617-627
-
-
Raychowdhury, M.K.1
Gonzalez-Perrett, S.2
Montalbetti, N.3
Timpanaro, G.A.4
Chasan, B.5
Goldmann, W.H.6
Stahl, S.7
Cooney, A.8
Goldin, E.9
Cantiello, H.F.10
-
36
-
-
0029019585
-
On the distribution of amino acid residues in transmembrane alpha-helix bundles
-
FA Samatey C Xu JL Popot 1995 On the distribution of amino acid residues in transmembrane alpha-helix bundles Proc Natl Acad Sci USA 92 4577 4581
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 4577-4581
-
-
Samatey, F.A.1
Xu, C.2
Popot, J.L.3
-
38
-
-
33750998765
-
TRPML cation channels regulate the specialized lysosomal compartment of vertebrate B-lymphocytes
-
12
-
Y Song R Dayalu SA Matthews AM Scharenberg 2006 TRPML cation channels regulate the specialized lysosomal compartment of vertebrate B-lymphocytes Eur J Cell Biol 85 12 1253 1264
-
(2006)
Eur J Cell Biol
, vol.85
, pp. 1253-1264
-
-
Song, Y.1
Dayalu, R.2
Matthews, S.A.3
Scharenberg, A.M.4
-
40
-
-
0037069329
-
Varitint-waddler: A double whammy for hearing
-
KP Steel 2002 Varitint-waddler: a double whammy for hearing Proc Natl Acad Sci USA 99 14613 14615
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 14613-14615
-
-
Steel, K.P.1
-
41
-
-
0034641869
-
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
-
M Sun E Goldin S Stahl JL Falardeau JC Kennedy JS Acierno Jr C Bove CR Kaneski J Nagle MC Bromley M Colman R Schiffmann SA Slaugenhaupt 2000 Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel Hum Mol Genet 9 2471 2478
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2471-2478
-
-
Sun, M.1
Goldin, E.2
Stahl, S.3
Falardeau, J.L.4
Kennedy, J.C.5
Acierno Jr., J.S.6
Bove, C.7
Kaneski, C.R.8
Nagle, J.9
Bromley, M.C.10
Colman, M.11
Schiffmann, R.12
Slaugenhaupt, S.A.13
-
44
-
-
33745193718
-
Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1
-
K Venkatachalam T Hofmann C Montell 2006 Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1 J Biol Chem 281 17517 17527
-
(2006)
J Biol Chem
, vol.281
, pp. 17517-17527
-
-
Venkatachalam, K.1
Hofmann, T.2
Montell, C.3
-
45
-
-
33644655372
-
Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes
-
S Vergarajauregui R Puertollano 2006 Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes Traffic 7 337 353
-
(2006)
Traffic
, vol.7
, pp. 337-353
-
-
Vergarajauregui, S.1
Puertollano, R.2
-
47
-
-
36749008553
-
Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice
-
H Xu M Delling L Li X Dong DE Clapham 2007 Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice Proc Natl Acad Sci USA 104 18321 18326
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 18321-18326
-
-
Xu, H.1
Delling, M.2
Li, L.3
Dong, X.4
Clapham, D.E.5
-
48
-
-
25144442315
-
Conformational changes of pore helix coupled to gating of TRPV5 by protons
-
BI Yeh YK Kim W Jabbar CL Huang 2005 Conformational changes of pore helix coupled to gating of TRPV5 by protons EMBO J 24 3224 3234
-
(2005)
EMBO J
, vol.24
, pp. 3224-3234
-
-
Yeh, B.I.1
Kim, Y.K.2
Jabbar, W.3
Huang, C.L.4
|