-
1
-
-
0034894817
-
Mucolipidosis type IV
-
Bach, G. (2001). Mucolipidosis type IV. Mol. Genet. Metab. 73, 197-203.
-
(2001)
Mol. Genet. Metab.
, vol.73
, pp. 197-203
-
-
Bach, G.1
-
2
-
-
26444446487
-
Mucolipin 1, endocytosis and cation channel-a review
-
Bach, G. (2005). Mucolipin 1, endocytosis and cation channel-a review. Pflugers Arch. 451, 313-317.
-
(2005)
Pflugers Arch.
, vol.451
, pp. 313-317
-
-
Bach, G.1
-
3
-
-
0035032399
-
Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and Mon-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population
-
DOI 10.1002/humu.1115
-
Bargal, R., Avidan, N., Olender, T., Ben Asher, E., Zeigler, M., Raas-Rothschild, A., Frumkin, A., Ben-Yoseph, O., Friedlender, Y., Lancet, D. et al. (2001). Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. Hum. Mutat. 17, 397-402. (Pubitemid 32381674)
-
(2001)
Human Mutation
, vol.17
, Issue.5
, pp. 397-402
-
-
Bargal, R.1
Avidan, N.2
Olender, T.3
Asher, E.B.4
Zeigler, M.5
Raas-Rothschild, A.6
Frumkin, A.7
Ben-Yoseph, O.8
Friedlender, Y.9
Lancet, D.10
Bach, G.11
-
4
-
-
26444444017
-
Cation channel activity of mucolipin-1: The effect of calcium
-
Cantiello, H. F., Montalbetti, N., Goldmann, W. H., Raychowdhury, M. K., Gonzalez-Perrett, S., Timpanaro, G. A. and Chasan, B. (2005). Cation channel activity of mucolipin-1: the effect of calcium. Pflugers Arch. 451, 304-312.
-
(2005)
Pflugers Arch.
, vol.451
, pp. 304-312
-
-
Cantiello, H.F.1
Montalbetti, N.2
Goldmann, W.H.3
Raychowdhury, M.K.4
Gonzalez-Perrett, S.5
Timpanaro, G.A.6
Chasan, B.7
-
5
-
-
56649123409
-
The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: Cause and consequence
-
Cuajungco, M. P. and Samie, M. A. (2008). The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence. Pflugers Arch. Eur. J. Physiol. 457, 463-473.
-
(2008)
Pflugers Arch. Eur. J. Physiol.
, vol.457
, pp. 463-473
-
-
Cuajungco, M.P.1
Samie, M.A.2
-
6
-
-
0442323561
-
Autophagy: In sickness and in health
-
Cuervo, A. M. (2004a). Autophagy: in sickness and in health. Trends Cell Biol. 14, 70-77.
-
(2004)
Trends Cell Biol.
, vol.14
, pp. 70-77
-
-
Cuervo, A.M.1
-
7
-
-
4544385218
-
Autophagy: Many paths to the same end
-
Cuervo, A. M. (2004b). Autophagy: many paths to the same end. Mol. Cell. Biochem. 263, 55-72.
-
(2004)
Mol. Cell. Biochem.
, vol.263
, pp. 55-72
-
-
Cuervo, A.M.1
-
8
-
-
73349119121
-
Functional multimerization of mucolipin channel proteins
-
Curcio-Morelli, C., Zhang, P., Venugopal, B., Charles, F. A., Browning, M. F., Cantiello, H. F. and Slaugenhaupt, S. A. (2010). Functional multimerization of mucolipin channel proteins. J. Cell Physiol. 222, 328-335.
-
(2010)
J. Cell Physiol.
, vol.222
, pp. 328-335
-
-
Curcio-Morelli, C.1
Zhang, P.2
Venugopal, B.3
Charles, F.A.4
Browning, M.F.5
Cantiello, H.F.6
Slaugenhaupt, S.A.7
-
9
-
-
0037069373
-
Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice
-
Di Palma, F., Belyantseva, I. A., Kim, H. J., Vogt, T. F., Kachar, B. and Noben-Trauth, K. (2002). Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice. Proc. Natl. Acad. Sci. USA 99, 14994-14999.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 14994-14999
-
-
Di Palma, F.1
Belyantseva, I.A.2
Kim, H.J.3
Vogt, T.F.4
Kachar, B.5
Noben-Trauth, K.6
-
10
-
-
54049156405
-
The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel
-
Dong, X. P., Cheng, X., Mills, E., Delling, M., Wang, F., Kurz, T. and Xu, H. (2008). The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. Nature 455, 992-996.
-
(2008)
Nature
, vol.455
, pp. 992-996
-
-
Dong, X.P.1
Cheng, X.2
Mills, E.3
Delling, M.4
Wang, F.5
Kurz, T.6
Xu, H.7
-
11
-
-
70450236985
-
Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis
-
Dong, X. P., Wang, X., Shen, D., Chen, S., Liu, M., Wang, Y., Mills, E., Cheng, X., Delling, M. and Xu, H. (2009). Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis. J. Biol. Chem. 284, 32040-32052.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 32040-32052
-
-
Dong, X.P.1
Wang, X.2
Shen, D.3
Chen, S.4
Liu, M.5
Wang, Y.6
Mills, E.7
Cheng, X.8
Delling, M.9
Xu, H.10
-
12
-
-
37649014647
-
A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse
-
Grimm, C., Cuajungco, M. P., van Aken, A. F., Schnee, M., Jors, S., Kros, C. J., Ricci, A. J. and Heller, S. (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
-
13
-
-
67649406472
-
Life and death of sensory hair cells expressing constitutively active TRPML3
-
Grimm, C., Jors, S. and Heller, S. (2009). Life and death of sensory hair cells expressing constitutively active TRPML3. J. Biol. Chem. 284, 13823-13831.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 13823-13831
-
-
Grimm, C.1
Jors, S.2
Heller, S.3
-
14
-
-
77049105199
-
Small molecule activators of TRPML3
-
Grimm, C., Jors, S., Saldanha, S. A., Obukhov, A. G., Pan, B., Oshima, K., Cuajungco, M. P., Chase, P., Hodder, P. and Heller, S. (2010). Small molecule activators of TRPML3. Chem. Biol. 17, 135-148.
-
(2010)
Chem. Biol.
, vol.17
, pp. 135-148
-
-
Grimm, C.1
Jors, S.2
Saldanha, S.A.3
Obukhov, A.G.4
Pan, B.5
Oshima, K.6
Cuajungco, M.P.7
Chase, P.8
Hodder, P.9
Heller, S.10
-
15
-
-
0024520745
-
Site-directed mutagenesis by overlap extension using the polymerase chain reaction
-
Ho, S. N., Hunt, H. D., Horton, R. M., Pullen, J. K. and Pease, L. R. (1989). Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 77, 51-59.
-
(1989)
Gene
, vol.77
, pp. 51-59
-
-
Ho, S.N.1
Hunt, H.D.2
Horton, R.M.3
Pullen, J.K.4
Pease, L.R.5
-
16
-
-
34548586988
-
Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs
-
DOI 10.1111/j.1600-0854.2007.00619.x
-
Karacsonyi, C., Miguel, A. S. and Puertollano, R. (2007). Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs. Traffic 8, 1404-1414. (Pubitemid 47394244)
-
(2007)
Traffic
, vol.8
, Issue.10
, pp. 1404-1414
-
-
Karacsonyi, C.1
San Miguel, A.2
Puertollano, R.3
-
17
-
-
37549009562
-
Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype
-
Kim, H. J., Li, Q., Tjon-Kon-Sang, S., So, I., Kiselyov, K. and Muallem, S. (2007). Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype. J. Biol. Chem. 282, 36138-36142.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 36138-36142
-
-
Kim, H.J.1
Li, Q.2
Tjon-Kon-Sang, S.3
So, I.4
Kiselyov, K.5
Muallem, S.6
-
18
-
-
42449103570
-
A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype
-
Kim, H. J., Li, Q., Tjon-Kon-Sang, S., So, I., Kiselyov, K., Soyombo, A. A. and Muallem, S. (2008). A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype. EMBO J. 27, 1197-1205.
-
(2008)
EMBO J.
, vol.27
, pp. 1197-1205
-
-
Kim, H.J.1
Li, Q.2
Tjon-Kon-Sang, S.3
So, I.4
Kiselyov, K.5
Soyombo, A.A.6
Muallem, S.7
-
19
-
-
67649870315
-
The Ca(2+) channel TRPML3 regulates membrane trafficking and autophagy
-
Kim, H. J., Soyombo, A. A., Tjon-Kon-Sang, S., So, I. and Muallem, S. (2009). The Ca(2+) channel TRPML3 regulates membrane trafficking and autophagy. Traffic 10, 1157-1167.
-
(2009)
Traffic
, vol.10
, pp. 1157-1167
-
-
Kim, H.J.1
Soyombo, A.A.2
Tjon-Kon-Sang, S.3
So, I.4
Muallem, S.5
-
20
-
-
30044439235
-
TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage
-
Kiselyov, K., Chen, J., Rbaibi, Y., Oberdick, D., Tjon-Kon-Sang, S., Shcheynikov, N., Muallem, S. and Soyombo, A. (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
-
21
-
-
34248583762
-
Methods for monitoring autophagy from yeast to human
-
Klionsky, D. J., Cuervo, A. M. and Seglen, P. O. (2007). Methods for monitoring autophagy from yeast to human. Autophagy 3, 181-206.
-
(2007)
Autophagy
, vol.3
, pp. 181-206
-
-
Klionsky, D.J.1
Cuervo, A.M.2
Seglen, P.O.3
-
22
-
-
33751120702
-
Lysosomal exocytosis is impaired in mucolipidosis type IV
-
LaPlante, J. M., Sun, M., Falardeau, J., Dai, D., Brown, E. M., Slaugenhaupt, S. A. and Vassilev, P. M. (2006). Lysosomal exocytosis is impaired in mucolipidosis type IV. Mol. Genet. Metab. 89, 339-348.
-
(2006)
Mol. Genet. Metab.
, vol.89
, pp. 339-348
-
-
LaPlante, J.M.1
Sun, M.2
Falardeau, J.3
Dai, D.4
Brown, E.M.5
Slaugenhaupt, S.A.6
Vassilev, P.M.7
-
23
-
-
77449137885
-
Constitutive activity of the human TRPML2 channel induces cell degeneration
-
Lev, S., Zeevi, D. A., Frumkin, A., Offen-Glasner, V., Bach, G. and Minke, B. (2010). Constitutive activity of the human TRPML2 channel induces cell degeneration. J. Biol. Chem. 285, 2771-2782.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 2771-2782
-
-
Lev, S.1
Zeevi, D.A.2
Frumkin, A.3
Offen-Glasner, V.4
Bach, G.5
Minke, B.6
-
24
-
-
2942529414
-
Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: Effects on the late endocytic compartment organization
-
Manzoni, M., Monti, E., Bresciani, R., Bozzato, A., Barlati, S., Bassi, M. T. and Borsani, G. (2004). Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization. FEBS Lett. 567, 219-224.
-
(2004)
FEBS Lett.
, vol.567
, pp. 219-224
-
-
Manzoni, M.1
Monti, E.2
Bresciani, R.3
Bozzato, A.4
Barlati, S.5
Bassi, M.T.6
Borsani, G.7
-
25
-
-
67649882769
-
The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathway
-
Martina, J. A., Lelouvier, B. and Puertollano, R. (2009). The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathway. Traffic 10, 1143-1156.
-
(2009)
Traffic
, vol.10
, pp. 1143-1156
-
-
Martina, J.A.1
Lelouvier, B.2
Puertollano, R.3
-
26
-
-
45149103982
-
Membrane traffic and turnover in TRP-ML1-deficient cells: A revised model for mucolipidosis type IV pathogenesis
-
Miedel, M. T., Rbaibi, Y., Guerriero, C. J., Colletti, G., Weixel, K. M., Weisz, O. A. and Kiselyov, K. (2008). Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis. J. Exp. Med. 205, 1477-1490.
-
(2008)
J. Exp. Med.
, vol.205
, pp. 1477-1490
-
-
Miedel, M.T.1
Rbaibi, Y.2
Guerriero, C.J.3
Colletti, G.4
Weixel, K.M.5
Weisz, O.A.6
Kiselyov, K.7
-
27
-
-
38349104748
-
The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration
-
Nagata, K., Zheng, L., Madathany, T., Castiglioni, A. J., Bartles, J. R. and Garcia-Anoveros, J. (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
-
28
-
-
4444271489
-
CUPpling calcium to lysosomal biogenesis
-
Piper, R. C. and Luzio, J. P. (2004). CUPpling calcium to lysosomal biogenesis. Trends Cell Biol. 14, 471-473.
-
(2004)
Trends Cell Biol.
, vol.14
, pp. 471-473
-
-
Piper, R.C.1
Luzio, J.P.2
-
29
-
-
33748572921
-
Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic
-
DOI 10.1111/j.1600-0854.2006.00475.x
-
Pryor, P. R., Reimann, F., Gribble, F. M. and Luzio, J. P. (2006). Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic. Traffic 7, 1388-1398. (Pubitemid 44364176)
-
(2006)
Traffic
, vol.7
, Issue.10
, pp. 1388-1398
-
-
Pryor, P.R.1
Reimann, F.2
Gribble, F.M.3
Luzio, J.P.4
-
31
-
-
12144285845
-
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel
-
Raychowdhury, M. K., Gonzalez-Perrett, S., Montalbetti, N., Timpanaro, G. A., Chasan, B., Goldmann, W. H., Stahl, S., Cooney, A., Goldin, E. and Cantiello, H. F. (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
-
32
-
-
73949085003
-
The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1
-
Samie, M. A., Grimm, C., Evans, J. A., Curcio-Morelli, C., Heller, S., Slaugenhaupt, S. A. and Cuajungco, M. P. (2009). The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1. Pflugers Arch. 459, 79-91.
-
(2009)
Pflugers Arch.
, vol.459
, pp. 79-91
-
-
Samie, M.A.1
Grimm, C.2
Evans, J.A.3
Curcio-Morelli, C.4
Heller, S.5
Slaugenhaupt, S.A.6
Cuajungco, M.P.7
-
33
-
-
33646344988
-
TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity
-
Soyombo, A. A., Tjon-Kon-Sang, S., Rbaibi, Y., Bashllari, E., Bisceglia, J., Muallem, S. and Kiselyov, K. (2006). TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity. J. Biol. Chem. 281, 7294-7301.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 7294-7301
-
-
Soyombo, A.A.1
Tjon-Kon-Sang, S.2
Rbaibi, Y.3
Bashllari, E.4
Bisceglia, J.5
Muallem, S.6
Kiselyov, K.7
-
34
-
-
0034641869
-
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
-
Sun, M., Goldin, E., Stahl, S., Falardeau, J. L., Kennedy, J. C., Acierno, J. S., Jr, Bove, C., Kaneski, C. R., Nagle, J., Bromley, M. C. et al. (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
-
35
-
-
1842428593
-
Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis
-
Treusch, S., Knuth, S., Slaugenhaupt, S. A., Goldin, E., Grant, B. D. and Fares, H. (2004). Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis. Proc. Natl. Acad. Sci. USA 101, 4483-4488.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 4483-4488
-
-
Treusch, S.1
Knuth, S.2
Slaugenhaupt, S.A.3
Goldin, E.4
Grant, B.D.5
Fares, H.6
-
36
-
-
33750730911
-
Rapidly inducible changes in phosphatidylinositol 4,5-bisphosphate levels influence multiple regulatory functions of the lipid in intact living cells
-
DOI /10.1083/jcb.200607116
-
Varnai, P., Thyagarajan, B., Rohacs, T. and Balla, T. (2006). Rapidly inducible changes in phosphatidylinositol 4,5-bisphosphate levels influence multiple regulatory functions of the lipid in intact living cells. J. Cell Biol. 175, 377-382. (Pubitemid 44708062)
-
(2006)
Journal of Cell Biology
, vol.175
, Issue.3
, pp. 377-382
-
-
Varnai, P.1
Thyagarajan, B.2
Rohacs, T.3
Balla, T.4
-
38
-
-
33745193718
-
Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1
-
DOI 10.1074/jbc.M600807200
-
Venkatachalam, K., Hofmann, T. and Montell, C. (2006). Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1. J. Biol. Chem. 281, 17517-17527. (Pubitemid 43909560)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.25
, pp. 17517-17527
-
-
Venkatachalam, K.1
Hofmann, T.2
Montell, C.3
-
39
-
-
56349119573
-
Motor deficit in a drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells
-
Venkatachalam, K., Long, A. A., Elsaesser, R., Nikolaeva, D., Broadie, K. and Montell, C. (2008). Motor deficit in a drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells. Cell 135, 838-851.
-
(2008)
Cell
, vol.135
, pp. 838-851
-
-
Venkatachalam, K.1
Long, A.A.2
Elsaesser, R.3
Nikolaeva, D.4
Broadie, K.5
Montell, C.6
-
40
-
-
35348829780
-
Neurologic, gastric, and opthalmologic pathologies in a murine model of Mucolipidosis type IV
-
Venugopal, B., Browning, M. F., Curcio-Morelli, C., Varro, A., Michaud, N., Nanthakumar, N., Walkley, S. U., Pickel, J. and Slaugenhaupt, S. A. (2007). Neurologic, gastric, and opthalmologic pathologies in a murine model of Mucolipidosis type IV. Am. J. Hum. Genet. 81, 1070-1083.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 1070-1083
-
-
Venugopal, B.1
Browning, M.F.2
Curcio-Morelli, C.3
Varro, A.4
Michaud, N.5
Nanthakumar, N.6
Walkley, S.U.7
Pickel, J.8
Slaugenhaupt, S.A.9
-
41
-
-
62149131064
-
Chaperone-mediated autophagy is defective in mucolipidosis Type IV
-
Venugopal, B., Mesires, N. T., Kennedy, J. C., Curcio-Morelli, C., LaPlante, J. M., Dice, J. F. and Slaugenhaupt, S. A. (2009). Chaperone-mediated autophagy is defective in mucolipidosis Type IV. J. Cell. Physiol. 219, 344-353.
-
(2009)
J. Cell. Physiol.
, vol.219
, pp. 344-353
-
-
Venugopal, B.1
Mesires, N.T.2
Kennedy, J.C.3
Curcio-Morelli, C.4
LaPlante, J.M.5
Dice, J.F.6
Slaugenhaupt, S.A.7
-
42
-
-
33644655372
-
Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes
-
Vergarajauregui, S. and Puertollano, R. (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
-
43
-
-
49649089300
-
Autophagic dysfunction in mucolipidosis type IV patients
-
Vergarajauregui, S., Connelly, P. S., Daniels, M. P. and Puertollano, R. (2008). Autophagic dysfunction in mucolipidosis type IV patients. Hum. Mol. Genet. 17, 2723-2737.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2723-2737
-
-
Vergarajauregui, S.1
Connelly, P.S.2
Daniels, M.P.3
Puertollano, R.4
-
44
-
-
36749008553
-
Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitintwaddler mice
-
Xu, H., Delling, M., Li, L., Dong, X. and Clapham, D. E. (2007). Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitintwaddler 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
-
45
-
-
27644484061
-
Autophagy: Molecular machinery for self-eating
-
Yorimitsu, T. and Klionsky, D. J. (2005). Autophagy: molecular machinery for self-eating. Cell Death Differ. 12, 1542-1552.
-
(2005)
Cell Death Differ.
, vol.12
, pp. 1542-1552
-
-
Yorimitsu, T.1
Klionsky, D.J.2
-
46
-
-
34547485369
-
TRPML and lysosomal function
-
Zeevi, D. A., Frumkin, A. and Bach, G. (2007). TRPML and lysosomal function. Biochim. Biophys. Acta 1772, 851-858.
-
(2007)
Biochim. Biophys. Acta
, vol.1772
, pp. 851-858
-
-
Zeevi, D.A.1
Frumkin, A.2
Bach, G.3
-
47
-
-
70349115675
-
A potentially dynamic lysosomal role for the endogenous TRPML proteins
-
Zeevi, D. A., Frumkin, A., Offen-Glasner, V., Kogot-Levin, A. and Bach, G. (2009). A potentially dynamic lysosomal role for the endogenous TRPML proteins. J. Pathol. 219, 153-162.
-
(2009)
J. Pathol.
, vol.219
, pp. 153-162
-
-
Zeevi, D.A.1
Frumkin, A.2
Offen-Glasner, V.3
Kogot-Levin, A.4
Bach, G.5
|