-
1
-
-
0033362229
-
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes
-
Slaugenhaupt SA, Acierno JS Jr, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF. Mapping of the mucolipidosis type IV gene to chromosome 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 Jr., J.S.2
Helbling, L.A.3
Bove, C.4
Goldin, E.5
Bach, G.6
Schiffmann, R.7
Gusella, J.F.8
-
2
-
-
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
-
3
-
-
0033760264
-
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-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, mucolipidin-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
-
4
-
-
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 Jr, 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 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
-
5
-
-
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
-
6
-
-
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
-
8
-
-
26444444017
-
Cation channel activity of mucolipin-1: The effect of calcium
-
Cantiello HF, Montalbetti N, Goldmann WH, Raychowdhury MK, Gonzalez-Perrett S, Timpanaro GA, Chasan B. Cation channel activity of mucolipin-1: The effect of calcium. Pflügers Arch - Eur J Physiol 2005;451:304-312.
-
(2005)
Pflügers Arch - Eur J Physiol
, 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
-
9
-
-
33646344988
-
TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity
-
Soyombo AA, Tjon-Kon-Sang S, Rbaibi Y, Bashllari E, Bisceglia J, Muallem S, Kiselyov K. TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity. J Biol Chem 2006;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
-
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 U S A 1998;95:6373-6378.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 6373-6378
-
-
Chen, C.S.1
Bach, G.2
Pagano, R.E.3
-
11
-
-
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
-
12
-
-
26444446487
-
Mucolipin 1: Endocytosis and cation channel - A review
-
Bach G. Mucolipin 1: Endocytosis and cation channel - a review. Pflügers Arch 2005;451:313-317.
-
(2005)
Pflügers Arch
, vol.451
, pp. 313-317
-
-
Bach, G.1
-
13
-
-
0033546958
-
Broad screening test for sphingolipid-storage diseases
-
Chen CS, Patterson MC, Wheatley CL, O'Brien JF, Pagano RE. Broad screening test for sphingolipid-storage diseases. Lancet 1999;354:901-905.
-
(1999)
Lancet
, vol.354
, pp. 901-905
-
-
Chen, C.S.1
Patterson, M.C.2
Wheatley, C.L.3
O'Brien, J.F.4
Pagano, R.E.5
-
14
-
-
13944258097
-
Endocytic delivery to lysosomes mediated by concurrent fusion and kissing events in living cells
-
Bright NA, Gratian MJ, Luzio JP. Endocytic delivery to lysosomes mediated by concurrent fusion and kissing events in living cells. Curr Biol 2005;15:360-365.
-
(2005)
Curr Biol
, vol.15
, pp. 360-365
-
-
Bright, N.A.1
Gratian, M.J.2
Luzio, J.P.3
-
15
-
-
0034729167
-
The role of intraorganellar Ca(2+) in late endosome-lysosome heterotypic fusion and in the reformation of lysosomes from hybrid organelles
-
Pryor PR, Mullock BM, Bright NA, Gray SR, Luzio JP. The role of intraorganellar Ca(2+) in late endosome-lysosome heterotypic fusion and in the reformation of lysosomes from hybrid organelles. J Cell Biol 2000;149:1053-1062.
-
(2000)
J Cell Biol
, vol.149
, pp. 1053-1062
-
-
Pryor, P.R.1
Mullock, B.M.2
Bright, N.A.3
Gray, S.R.4
Luzio, J.P.5
-
16
-
-
3042735690
-
Combinatorial SNARE complexes with VAMP7 or VAMP8 define different late endocytic fusion events
-
Pryor PR, Mullock BM, Bright NA, Lindsay MR, Gray SR, Richardson SC, Stewart A, James DE, Piper RC, Luzio JP. Combinatorial SNARE complexes with VAMP7 or VAMP8 define different late endocytic fusion events. EMBO Rep 2004;5:590-595.
-
(2004)
EMBO Rep
, vol.5
, pp. 590-595
-
-
Pryor, P.R.1
Mullock, B.M.2
Bright, N.A.3
Lindsay, M.R.4
Gray, S.R.5
Richardson, S.C.6
Stewart, A.7
James, D.E.8
Piper, R.C.9
Luzio, J.P.10
-
17
-
-
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 U S A 2004;101:4483-4488.
-
(2004)
Proc Natl Acad Sci U S A
, 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
-
18
-
-
4444271489
-
CUPpling calcium to lysosomal biogenesis
-
Piper RC, Luzio JP. CUPpling calcium to lysosomal biogenesis. Trends Cell Biol 2004;14:471-473.
-
(2004)
Trends Cell Biol
, vol.14
, pp. 471-473
-
-
Piper, R.C.1
Luzio, J.P.2
-
19
-
-
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
-
20
-
-
33644655372
-
Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes
-
Vergarajauregui S, Puertollano R. Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes. Traffic 2006;7:337-353.
-
(2006)
Traffic
, vol.7
, pp. 337-353
-
-
Vergarajauregui, S.1
Puertollano, R.2
-
21
-
-
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, Soyombo A. TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage. J Biol Chem 2005;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
-
-
33744963797
-
Posttranslational cleavage and adaptor protein complex-dependent trafficking of mucolipin-1
-
Miedel MT, Weixel KM, Bruns JR, Traub LM, Weisz OA. Posttranslational cleavage and adaptor protein complex-dependent trafficking of mucolipin-1. J Biol Chem 2006;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
-
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
-
-
0033203501
-
Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases
-
Puri V, Watanabe R, Dominguez M, Sun X, Wheatley CL, Marks DL, Pagano RE. Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases. Nat Cell Biol 1999;1:386-388.
-
(1999)
Nat Cell Biol
, vol.1
, pp. 386-388
-
-
Puri, V.1
Watanabe, R.2
Dominguez, M.3
Sun, X.4
Wheatley, C.L.5
Marks, D.L.6
Pagano, R.E.7
-
25
-
-
0034158443
-
Niemann-Pick type C mutations cause lipid traffic jam
-
Liscum L. Niemann-Pick type C mutations cause lipid traffic jam. Traffic 2000;1:218-225.
-
(2000)
Traffic
, vol.1
, pp. 218-225
-
-
Liscum, L.1
-
26
-
-
22844431761
-
Comparison of effects of U18666A and enantiomeric U18666A on sterol synthesis and induction of apoptosis
-
Cenedella RJ, Sexton PS, Krishnan K, Covey DF. Comparison of effects of U18666A and enantiomeric U18666A on sterol synthesis and induction of apoptosis. Lipids 2005;40:635-640.
-
(2005)
Lipids
, vol.40
, pp. 635-640
-
-
Cenedella, R.J.1
Sexton, P.S.2
Krishnan, K.3
Covey, D.F.4
-
27
-
-
33745685199
-
Basis of lethality in C. elegans lacking CUP-5, the mucolipidosis type IV orthologue
-
Schaheen L, Dang H, Fares H. Basis of lethality in C. elegans lacking CUP-5, the mucolipidosis type IV orthologue. Dev Biol 2006;293:382-391.
-
(2006)
Dev Biol
, vol.293
, pp. 382-391
-
-
Schaheen, L.1
Dang, H.2
Fares, H.3
-
28
-
-
0030805283
-
Mucolipidosis type IV: Abnormal transport of lipids to lysosomes
-
Bargal R, Bach G. Mucolipidosis type IV: Abnormal transport of lipids to lysosomes. J Inher Metab Dis 1997;20:625-632.
-
(1997)
J Inher Metab Dis
, vol.20
, pp. 625-632
-
-
Bargal, R.1
Bach, G.2
-
29
-
-
0347504835
-
TRP channels as cellular sensors
-
Clapham DE. TRP channels as cellular sensors. Nature 2003;426:517-524.
-
(2003)
Nature
, vol.426
, pp. 517-524
-
-
Clapham, D.E.1
-
30
-
-
0036472494
-
pH-dependent regulation of lysosomal calcium in macrophages
-
Christensen KA, Myers JT, Swanson JA. pH-dependent regulation of lysosomal calcium in macrophages. J Cell Sci 2002;115: 599-607.
-
(2002)
J Cell Sci
, vol.115
, pp. 599-607
-
-
Christensen, K.A.1
Myers, J.T.2
Swanson, J.A.3
-
31
-
-
0029029036
-
Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent
-
Goldin E, Blanchette-Mackie EJ, Dwyer NK, Pentchev PG, Brady RO. Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent. Pediatr Res 1995;37:687-692.
-
(1995)
Pediatr Res
, vol.37
, pp. 687-692
-
-
Goldin, E.1
Blanchette-Mackie, E.J.2
Dwyer, N.K.3
Pentchev, P.G.4
Brady, R.O.5
-
32
-
-
0032965433
-
Elevated lysosomal pH in Mucolipidosis type IV cells
-
Bach G, Chen CS, Pagano RE. Elevated lysosomal pH in Mucolipidosis type IV cells. Clin Chim Acta 1999;280:173-179.
-
(1999)
Clin Chim Acta
, vol.280
, pp. 173-179
-
-
Bach, G.1
Chen, C.S.2
Pagano, R.E.3
-
33
-
-
0028179245
-
14C]Methylamine accumulation in cultured human skin fibroblasts - A biochemical test for lysosomal storage and lysosomal diseases
-
Kopitz J, Gerhard C, Hofler P, Cantz M. [14 C]Methylamine accumulation in cultured human skin fibroblasts - a biochemical test for lysosomal storage and lysosomal diseases. Clin Chim Acta 1994;227:121-133.
-
(1994)
Clin Chim Acta
, vol.227
, pp. 121-133
-
-
Kopitz, J.1
Gerhard, C.2
Hofler, P.3
Cantz, M.4
-
34
-
-
0037379781
-
Voltage-gated proton channels and other proton transfer pathways
-
DeCoursey TE. Voltage-gated proton channels and other proton transfer pathways. Physiol Rev 2003;83:475-579.
-
(2003)
Physiol Rev
, vol.83
, pp. 475-579
-
-
DeCoursey, T.E.1
-
35
-
-
11144227270
-
Lysosome-sarcoplasmic reticulum junctions
-
Kinnear NP, Boittin F-X, Thomas JM, Galione A, Evans MA. Lysosome-sarcoplasmic reticulum junctions. J Biol Chem 2004;279:54319-54326.
-
(2004)
J Biol Chem
, vol.279
, pp. 54319-54326
-
-
Kinnear, N.P.1
Boittin, F.-X.2
Thomas, J.M.3
Galione, A.4
Evans, M.A.5
-
36
-
-
14944385370
-
A proteomic analysis of lysosomal integral membrane proteins reveals the diverse composition of the organelle
-
Bagshaw RD, Mahuran DJ, Callahan JW. A proteomic analysis of lysosomal integral membrane proteins reveals the diverse composition of the organelle. Mol Cell Proteomics 2005;4:133-143.
-
(2005)
Mol Cell Proteomics
, vol.4
, pp. 133-143
-
-
Bagshaw, R.D.1
Mahuran, D.J.2
Callahan, J.W.3
-
37
-
-
0030451424
-
TGN38-green fluorescent protein hybrid proteins expressed in stably transfected eukaryotic cells provide a tool for the real-time, in vivo study of membrane traffic pathways and suggest a possible role for ratTGN38
-
Girotti M, Banting G. TGN38-green fluorescent protein hybrid proteins expressed in stably transfected eukaryotic cells provide a tool for the real-time, in vivo study of membrane traffic pathways and suggest a possible role for ratTGN38. J Cell Sci 1996;109:2915-2926.
-
(1996)
J Cell Sci
, vol.109
, pp. 2915-2926
-
-
Girotti, M.1
Banting, G.2
-
38
-
-
0029863528
-
The effect of wortmannin on the localization of lysosomal type I integral membrane glycoproteins suggests a role for phosphoinositide 3-kinase activity in regulating membrane traffic late in the endocytic pathway
-
Reaves BJ, Bright NA, Mullock BM, Luzio JP. The effect of wortmannin on the localization of lysosomal type I integral membrane glycoproteins suggests a role for phosphoinositide 3-kinase activity in regulating membrane traffic late in the endocytic pathway. J Cell Sci 1996;109:749-762.
-
(1996)
J Cell Sci
, vol.109
, pp. 749-762
-
-
Reaves, B.J.1
Bright, N.A.2
Mullock, B.M.3
Luzio, J.P.4
|