-
1
-
-
0034894817
-
Mucolipidosis type IV
-
Bach G. Mucolipidosis type IV. Mol Genet Metab 2001;73:197-203.
-
(2001)
Mol Genet Metab
, vol.73
, pp. 197-203
-
-
Bach, G.1
-
2
-
-
0023230993
-
Mucolipidosis type IV: Clinical spectrum and natural history
-
Amir N, Zlotogora J, Bach G. Mucolipidosis type IV: Clinical spectrum and natural history. Pediatrics 1987;79:953-959.
-
(1987)
Pediatrics
, vol.79
, pp. 953-959
-
-
Amir, N.1
Zlotogora, J.2
Bach, G.3
-
3
-
-
0037072286
-
The neurogenetics of mucolipidosis type IV
-
Altarescu G, Sun M, Moore DF, Smith JA, Wiggs EA, Solomon BI, Patronas NJ, Frei KP, Gupta S, Kaneski CR, Quarrell OW, Slaugenhaupt SA, Goldin E, Schiffmann R. The neurogenetics of mucolipidosis type IV. Neurology 2002;59:306-313.
-
(2002)
Neurology
, vol.59
, pp. 306-313
-
-
Altarescu, G.1
Sun, M.2
Moore, D.F.3
Smith, J.A.4
Wiggs, E.A.5
Solomon, B.I.6
Patronas, N.J.7
Frei, K.P.8
Gupta, S.9
Kaneski, C.R.10
Quarrell, O.W.11
Slaugenhaupt, S.A.12
Goldin, E.13
Schiffmann, R.14
-
4
-
-
0035032399
-
Mucolipidosis type IV: Novel mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population
-
Bargal R, Avidan N, Olender T, Ben Asher E, Zeigler M, Raas-Rothschild A, Frumkin A, Ben-Yosef O, Lancet D, Bach G. Mucolipidosis type IV: novel mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. Hum Mutat 2001;17:397-402.
-
(2001)
Hum Mutat
, vol.17
, pp. 397-402
-
-
Bargal, R.1
Avidan, N.2
Olender, T.3
Ben Asher, E.4
Zeigler, M.5
Raas-Rothschild, A.6
Frumkin, A.7
Ben-Yosef, O.8
Lancet, D.9
Bach, G.10
-
5
-
-
0016725463
-
Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV
-
Bach G, Cohen MM, Kohn G. Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV. Biochem Biophys Res Commun 1975;66:1483-1490.
-
(1975)
Biochem Biophys Res Commun
, vol.66
, pp. 1483-1490
-
-
Bach, G.1
Cohen, M.M.2
Kohn, G.3
-
6
-
-
0017281345
-
Mucolipidosis IV: Clinical, ultrastructural, histochemical and chemical studies of a case, including a brain biopsy
-
Tellez-Nagel I, Rapin I, Iwamoto T, Johnson AA, Norton WT, Nitowsky H. Mucolipidosis IV: Clinical, ultrastructural, histochemical and chemical studies of a case, including a brain biopsy. Arch Neurol 1976;33: 828-835.
-
(1976)
Arch Neurol
, vol.33
, pp. 828-835
-
-
Tellez-Nagel, I.1
Rapin, I.2
Iwamoto, T.3
Johnson, A.A.4
Norton, W.T.5
Nitowsky, H.6
-
7
-
-
0017705230
-
Mucopolysaccarides accumulation in cultured skin fibroblasts derived from patients with Mucolipidosis IV
-
Bach G, Zeigler M, Kohn G, Cohen MM. Mucopolysaccarides accumulation in cultured skin fibroblasts derived from patients with Mucolipidosis IV. Am J Hum Genet 1977;29:610-618.
-
(1977)
Am J Hum Genet
, vol.29
, pp. 610-618
-
-
Bach, G.1
Zeigler, M.2
Kohn, G.3
Cohen, M.M.4
-
9
-
-
0028904851
-
Mucolipidosis IV: Morphology and histochemistry of an autopsy case
-
Folkerth RD, Alroy J, Lomakina I, Skutelsky E, Raghavan SS, Kolodny EH. Mucolipidosis IV: Morphology and histochemistry of an autopsy case. J Neuropathol Exp Neurol 1995;54:154-164.
-
(1995)
J Neuropathol Exp Neurol
, vol.54
, pp. 154-164
-
-
Folkerth, R.D.1
Alroy, J.2
Lomakina, I.3
Skutelsky, E.4
Raghavan, S.S.5
Kolodny, E.H.6
-
10
-
-
0032568565
-
Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease
-
Chen CS, Bach G, Pagano RE. Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. Proc Natl Acad Sci USA 1998;95:6373-6378.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 6373-6378
-
-
Chen, C.S.1
Bach, G.2
Pagano, R.E.3
-
11
-
-
0033362229
-
Mapping of the mucolipidosis type IV gene to chromosomal 19p and definition of founder haplotypes
-
Slaugenhaupt SA, Acierno JS, Hebing LA, Bove C, Goldin E, Bach G, Schiffmann R, Guesella JF. Mapping of the mucolipidosis type IV gene to chromosomal 19p and definition of founder haplotypes. Am J Hum Genet 1999;65:773-778.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 773-778
-
-
Slaugenhaupt, S.A.1
Acierno, J.S.2
Hebing, L.A.3
Bove, C.4
Goldin, E.5
Bach, G.6
Schiffmann, R.7
Guesella, J.F.8
-
12
-
-
0033822172
-
Identification of the gene causing mucolipidosis type IV
-
Bargal R, Avidan N, Ben Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G. Identification of the gene causing mucolipidosis type IV. Nat Genet 2000;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
-
13
-
-
0033760264
-
Cloning of the gene encoding a novel integral membrane protein mucolipin, and identification of the two major founder mutations causing mucolipidosis type IV
-
Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G. Cloning of the gene encoding a novel integral membrane protein mucolipin, and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet 2000;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
-
14
-
-
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 JL, Kennedy JC, Acierno JS, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet 2000;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, 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
-
16
-
-
18744363612
-
Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway
-
LaPlante JM, Falardeau J, Sun M, Kanazirska M, Brown EM, Slaugenhaupt SA, Vassilev PM. 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 2002;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
-
17
-
-
12144285845
-
Molecular pathophysiology of mucolipidosis type IV: PH dysregulation of the mucolipin-1 cation channel
-
Raychowdhury MK, Gonzalez-Perrett S, Montalbetti N, Timpanaro GA, Chasan B, Goldmann WH, Stahl S, Cooney A, Goldin E, Cantiello HF. Molecular pathophysiology of mucolipidosis type IV: PH dysregulation of the mucolipin-1 cation channel. Hum Mol Genet 2004;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
-
18
-
-
0038264340
-
Membrane dynamics and the biogenesis of lysosomes
-
Luzio JP, Poupon V, Lindsay MR, Mullock BM, Piper RC, Pryor PR. Membrane dynamics and the biogenesis of lysosomes. Mol Membr Biol 2003;20:141-154.
-
(2003)
Mol Membr Biol
, vol.20
, pp. 141-154
-
-
Luzio, J.P.1
Poupon, V.2
Lindsay, M.R.3
Mullock, B.M.4
Piper, R.C.5
Pryor, P.R.6
-
19
-
-
0035031192
-
Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin 1 homology
-
Fares H, Greenwald I. Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin 1 homology. Nat Genet 2001;28: 64-68.
-
(2001)
Nat Genet
, vol.28
, pp. 64-68
-
-
Fares, H.1
Greenwald, I.2
-
20
-
-
0037007142
-
The Caenorhabditis elegans mucolipin-like gene CUP-5 is essential for viability and regulates lysosomes in multiple cell types
-
Hersh BM, Hartwieg E, Horvitz RH. The Caenorhabditis elegans mucolipin-like gene CUP-5 is essential for viability and regulates lysosomes in multiple cell types. Proc Nat Acad Sci USA 2002;99:4355-4360.
-
(2002)
Proc Nat Acad Sci USA
, vol.99
, pp. 4355-4360
-
-
Hersh, B.M.1
Hartwieg, E.2
Horvitz, R.H.3
-
21
-
-
1842428593
-
Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis
-
Treusch S, Knuth S, Slaugenhaupt SA, Goldin E, Grant BD, Fares H. Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis. Proc Natl Acad Sci USA 2004;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
-
22
-
-
0028820625
-
A lysosomal targeting signal in the cytoplasmic tail of the beta chain directs HLA-DM to MHC class II compartments
-
Marks MS, Roche PA, van Donselaar E, Woodruff L, Peters PJ, Bonifacino JS. A lysosomal targeting signal in the cytoplasmic tail of the beta chain directs HLA-DM to MHC class II compartments. J Cell Biol 1995;131:351-369.
-
(1995)
J Cell Biol
, vol.131
, pp. 351-369
-
-
Marks, M.S.1
Roche, P.A.2
van Donselaar, E.3
Woodruff, L.4
Peters, P.J.5
Bonifacino, J.S.6
-
23
-
-
0038795645
-
Signals for sorting of transmembrane proteins to endosomes and lysosomes
-
Bonifacino JS, Traub LM. Signals for sorting of transmembrane proteins to endosomes and lysosomes. Annu Rev Biochem 2003;72: 395-447.
-
(2003)
Annu Rev Biochem
, vol.72
, pp. 395-447
-
-
Bonifacino, J.S.1
Traub, L.M.2
-
24
-
-
0034614557
-
Inhibition of protein palmitoylation, raft localization, and T cell signaling by 2-bromopalmitate and polyunsaturated fatty acids
-
Webb Y, Hermida-Matsumoto L, Resh MD. Inhibition of protein palmitoylation, raft localization, and T cell signaling by 2-bromopalmitate and polyunsaturated fatty acids. J Biol Chem 2000;275:261-270.
-
(2000)
J Biol Chem
, vol.275
, pp. 261-270
-
-
Webb, Y.1
Hermida-Matsumoto, L.2
Resh, M.D.3
-
25
-
-
0029670903
-
Cysteine34 of the cytoplasmic tail of the cation-dependent mannose 6-phosphate receptor is reversibly palmitoylated and required for normal trafficking and lysosomal enzyme sorting
-
Schweizer A, Kornfeld S, Rohrer J. Cysteine34 of the cytoplasmic tail of the cation-dependent mannose 6-phosphate receptor is reversibly palmitoylated and required for normal trafficking and lysosomal enzyme sorting. J Cell Biol 1996;132:577-584.
-
(1996)
J Cell Biol
, vol.132
, pp. 577-584
-
-
Schweizer, A.1
Kornfeld, S.2
Rohrer, J.3
-
26
-
-
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 MT, Borsani G. Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: Effects on the late endocytic compartment organization. FEBS Lett 2004;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
-
27
-
-
24344449035
-
Role of the endocytic machinery in the sorting of lysosome-associated membrane proteins
-
Janvier K, Bonifacino JS. Role of the endocytic machinery in the sorting of lysosome-associated membrane proteins. Mol Biol Cell 2005;16:4231-4242.
-
(2005)
Mol Biol Cell
, vol.16
, pp. 4231-4242
-
-
Janvier, K.1
Bonifacino, J.S.2
-
28
-
-
0024591235
-
Rapid redistribution of Golgi proteins into the ER in cells treated with brefeldin A: Evidence for membrane cycling from Golgi to ER
-
Lippincott-Schwartz J, Yuan LC, Bonifacino JS, Klausner RD. Rapid redistribution of Golgi proteins into the ER in cells treated with brefeldin A: Evidence for membrane cycling from Golgi to ER. Cell 1989;56:801-813.
-
(1989)
Cell
, vol.56
, pp. 801-813
-
-
Lippincott-Schwartz, J.1
Yuan, L.C.2
Bonifacino, J.S.3
Klausner, R.D.4
-
29
-
-
0028786852
-
Evidence for phosphatidylinositol 3-kinase as a regulator of endocytosis via activation of Rab5
-
Li G, D'Souza-Schorey C, Barbieri MA, Roberts RL, Klippel A, Williams LT, Stahl PD. Evidence for phosphatidylinositol 3-kinase as a regulator of endocytosis via activation of Rab5. Proc Natl Acad Sci USA 1995;92:10207-10211.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 10207-10211
-
-
Li, G.1
D'Souza-Schorey, C.2
Barbieri, M.A.3
Roberts, R.L.4
Klippel, A.5
Williams, L.T.6
Stahl, P.D.7
-
31
-
-
0031670728
-
Lumenal and transmembrane domains play a role in sorting type I membrane proteins on endocytic pathways
-
Reaves BJ, Banting G, Luzio JP. Lumenal and transmembrane domains play a role in sorting type I membrane proteins on endocytic pathways. Mol Biol Cell 1998;9:1107-1122.
-
(1998)
Mol Biol Cell
, vol.9
, pp. 1107-1122
-
-
Reaves, B.J.1
Banting, G.2
Luzio, J.P.3
-
32
-
-
0035958557
-
Plasma membrane repair is mediated by Ca(2+) -regulated exocytosis of lysosomes
-
Reddy A, Caler EV, Andrews NW. Plasma membrane repair is mediated by Ca(2+) -regulated exocytosis of lysosomes. Cell 2001;106:157-169.
-
(2001)
Cell
, vol.106
, pp. 157-169
-
-
Reddy, A.1
Caler, E.V.2
Andrews, N.W.3
-
33
-
-
0037213362
-
The on-off story of protein palmitoylation
-
Bijlmakers MJ, Marsh M. The on-off story of protein palmitoylation. Trends Cell Biol 2003;13:32-42.
-
(2003)
Trends Cell Biol
, vol.13
, pp. 32-42
-
-
Bijlmakers, M.J.1
Marsh, M.2
-
34
-
-
3543099503
-
Palmitoylation of intracellular signaling proteins: Regulation and function
-
Smotrys JE, Linder ME. Palmitoylation of intracellular signaling proteins: Regulation and function. Annu Rev Biochem 2004;73: 559-587.
-
(2004)
Annu Rev Biochem
, vol.73
, pp. 559-587
-
-
Smotrys, J.E.1
Linder, M.E.2
-
35
-
-
0030920365
-
The first 35 amino acids and fatty acylation sites determine the molecular targeting of endothelial nitric oxide synthase into the Golgi region of cells: A green fluorescent protein study
-
Liu J, Hughes TE, Sessa WC. The first 35 amino acids and fatty acylation sites determine the molecular targeting of endothelial nitric oxide synthase into the Golgi region of cells: A green fluorescent protein study. J Cell Biol 1997;137:1525-1535.
-
(1997)
J Cell Biol
, vol.137
, pp. 1525-1535
-
-
Liu, J.1
Hughes, T.E.2
Sessa, W.C.3
-
36
-
-
0034627757
-
Dual palmitoylation of PSD-95 mediates its vesiculotubular sorting, postsynaptic targeting, and ion channel clustering
-
El-Husseini AE, Craven SE, Chetkovich DM, Firestein BL, Schnell E, Aoki C, Bredt DS. Dual palmitoylation of PSD-95 mediates its vesiculotubular sorting, postsynaptic targeting, and ion channel clustering. J Cell Biol 2000;148:159-172.
-
(2000)
J Cell Biol
, vol.148
, pp. 159-172
-
-
El-Husseini, A.E.1
Craven, S.E.2
Chetkovich, D.M.3
Firestein, B.L.4
Schnell, E.5
Aoki, C.6
Bredt, D.S.7
-
37
-
-
0035860777
-
Characterization of sequence determinants within the carboxyl-terminal domain of chemokine receptor CCR5 that regulate signaling and receptor internalization
-
Kraft K, Olbrich H, Majoul I, Mack M, Proudfoot A, Oppermann M. Characterization of sequence determinants within the carboxyl-terminal domain of chemokine receptor CCR5 that regulate signaling and receptor internalization. J Biol Chem 2001;276:34408-34418.
-
(2001)
J Biol Chem
, vol.276
, pp. 34408-34418
-
-
Kraft, K.1
Olbrich, H.2
Majoul, I.3
Mack, M.4
Proudfoot, A.5
Oppermann, M.6
-
38
-
-
23444460823
-
Palmitoylation at Cys574 is essential for MT1-MMP to promote cell migration
-
Anilkumar N, Uekita T, Couchman JR, Nagase H, Seiki M, Itoh Y. Palmitoylation at Cys574 is essential for MT1-MMP to promote cell migration. FASEB J 2005;19:1326-1328.
-
(2005)
FASEB J
, vol.19
, pp. 1326-1328
-
-
Anilkumar, N.1
Uekita, T.2
Couchman, J.R.3
Nagase, H.4
Seiki, M.5
Itoh, Y.6
-
39
-
-
14844291405
-
Evidence that palmitoylation of carboxyl terminus cysteine residues of the human luteinizing hormone receptor regulates postendocytic processing
-
Munshi UM, Clouser CL, Peegel H, Menon KM. Evidence that palmitoylation of carboxyl terminus cysteine residues of the human luteinizing hormone receptor regulates postendocytic processing. Mol Endocrinol 2005;19:749-758.
-
(2005)
Mol Endocrinol
, vol.19
, pp. 749-758
-
-
Munshi, U.M.1
Clouser, C.L.2
Peegel, H.3
Menon, K.M.4
-
40
-
-
0036231098
-
Bilayered clathrin coats on endosomal vacuoles are involved in protein sorting toward lysosomes
-
Sachse M, Urbe S, Oorschot V, Strous GJ, Klumperman J. Bilayered clathrin coats on endosomal vacuoles are involved in protein sorting toward lysosomes. Mol Biol Cell 2002;13:1313-1328.
-
(2002)
Mol Biol Cell
, vol.13
, pp. 1313-1328
-
-
Sachse, M.1
Urbe, S.2
Oorschot, V.3
Strous, G.J.4
Klumperman, J.5
-
41
-
-
0026327392
-
An endogenous MDCK lysosomal membrane glycoprotein is targeted basolaterally before delivery to lysosomes
-
Nabi IR, Le Bivic A, Fambrough D, Rodriguez-Boulan E. An endogenous MDCK lysosomal membrane glycoprotein is targeted basolaterally before delivery to lysosomes. J Cell Biol 1991;115:1573-1584.
-
(1991)
J Cell Biol
, vol.115
, pp. 1573-1584
-
-
Nabi, I.R.1
Le Bivic, A.2
Fambrough, D.3
Rodriguez-Boulan, E.4
-
42
-
-
0023850352
-
SR alpha promoter: An efficient and versatile mammalian cDNA expression system composed of the simian virus 40 early promoter and the R-U5 segment of human T-cell leukemia virus type 1 long terminal repeat
-
Takebe Y, Seiki M, Fujisawa J, Hoy P, Yokota K, Arai K, Yoshida M, Arai N. SR alpha promoter: An efficient and versatile mammalian cDNA expression system composed of the simian virus 40 early promoter and the R-U5 segment of human T-cell leukemia virus type 1 long terminal repeat. Mol Cell Biol 1988;8:466-472.
-
(1988)
Mol Cell Biol
, vol.8
, pp. 466-472
-
-
Takebe, Y.1
Seiki, M.2
Fujisawa, J.3
Hoy, P.4
Yokota, K.5
Arai, K.6
Yoshida, M.7
Arai, N.8
-
43
-
-
0037329231
-
Adaptor and clathrin exchange at the plasma membrane and trans-Golgi network
-
Wu X, Zhao X, Puertollano R, Bonifacino JS, Eisenberg E, Green LE. Adaptor and clathrin exchange at the plasma membrane and trans-Golgi network. Mol Biol Cell 2003;14:516-528.
-
(2003)
Mol Biol Cell
, vol.14
, pp. 516-528
-
-
Wu, X.1
Zhao, X.2
Puertollano, R.3
Bonifacino, J.S.4
Eisenberg, E.5
Green, L.E.6
|