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Volumn 205, Issue 6, 2008, Pages 1477-1490

Membrane traffic and turnover in TRP-ML1-deficient cells: A revised model for mucolipidosis type IV pathogenesis

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN; SMALL INTERFERING RNA; TRANSIENT RECEPTOR POTENTIAL CHANNEL; TRANSIENT RECEPTOR POTENTIAL MUCOLIPIN 1;

EID: 45149103982     PISSN: 00221007     EISSN: 00221007     Source Type: Journal    
DOI: 10.1084/jem.20072194     Document Type: Article
Times cited : (82)

References (54)
  • 2
    • 0033760264 scopus 로고    scopus 로고
    • Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV
    • Bassi, M.T., M. Manzoni, E. Monti, M.T. Pizzo, A. Ballabio, and 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
  • 5
    • 0034894817 scopus 로고    scopus 로고
    • 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
  • 7
    • 0035990976 scopus 로고    scopus 로고
    • The molecular basis of mucolipidosis type IV
    • Slaugenhaupt, S.A. 2002. The molecular basis of mucolipidosis type IV. Curr. Mol. Med. 2:445-450.
    • (2002) Curr. Mol. Med , vol.2 , pp. 445-450
    • Slaugenhaupt, S.A.1
  • 9
    • 0036695865 scopus 로고    scopus 로고
    • Mucolipidosis IV: Novel mutation and diverse ultrastructural spectrum in the skin
    • Bargal, R., H.H. Goebel, E. Latta, and G. Bach. 2002. Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. Neuropediatrics. 33:199-202.
    • (2002) Neuropediatrics , vol.33 , pp. 199-202
    • Bargal, R.1    Goebel, H.H.2    Latta, E.3    Bach, G.4
  • 10
    • 0032759326 scopus 로고    scopus 로고
    • Lysosomal inclusions in gastric parietal cells in mucolipidosis type IV: A novel cause of achlorhydria and hypergastrinemia
    • Lubensky, I.A., R. Schiffmann, E. Goldin, and M. Tsokos. 1999. Lysosomal inclusions in gastric parietal cells in mucolipidosis type IV: a novel cause of achlorhydria and hypergastrinemia. Am. J. Surg. Pathol. 23:1527-1531.
    • (1999) Am. J. Surg. Pathol , vol.23 , pp. 1527-1531
    • Lubensky, I.A.1    Schiffmann, R.2    Goldin, E.3    Tsokos, M.4
  • 11
    • 0024558494 scopus 로고
    • Phosphatidylcholine storage in mucolipidosis IV
    • Bargal, R., and G. Bach. 1989. Phosphatidylcholine storage in mucolipidosis IV. Clin. Chim. Acta. 181:167-174.
    • (1989) Clin. Chim. Acta , vol.181 , pp. 167-174
    • Bargal, R.1    Bach, G.2
  • 12
    • 0030805283 scopus 로고    scopus 로고
    • Mucolipidosis type IV: Abnormal transport of lipids to lysosomes
    • Bargal, R., and G. Bach. 1997. Mucolipidosis type IV: abnormal transport of lipids to lysosomes. J. Inherit. Metab. Dis. 20:625-632.
    • (1997) J. Inherit. Metab. Dis , vol.20 , pp. 625-632
    • Bargal, R.1    Bach, G.2
  • 14
    • 0032892829 scopus 로고    scopus 로고
    • G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts
    • Raghavan, S., E. Leshinsky, and E.H. Kolodny. 1999. G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts. Neurochem. Res. 24:475-479.
    • (1999) Neurochem. Res , vol.24 , pp. 475-479
    • Raghavan, S.1    Leshinsky, E.2    Kolodny, E.H.3
  • 16
    • 0024392413 scopus 로고
    • Ganglioside GM3 sialidase activity in fibroblasts of normal individuals and of patients with sialidosis and mucolipidosis IV. Subcellular distribution and some properties
    • Lieser, M., E. Harms, H. Kern, G. Bach, and M. Cantz. 1989. Ganglioside GM3 sialidase activity in fibroblasts of normal individuals and of patients with sialidosis and mucolipidosis IV. Subcellular distribution and some properties. Biochem. J. 260:69-74.
    • (1989) Biochem. J , vol.260 , pp. 69-74
    • Lieser, M.1    Harms, E.2    Kern, H.3    Bach, G.4    Cantz, M.5
  • 17
    • 0023747054 scopus 로고
    • Phospholipids accumulation in mucolipidosis IV cultured fibroblasts
    • Bargal, R., and G. Bach. 1988. Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. J. Inherit. Metab. Dis. 11:144-150.
    • (1988) J. Inherit. Metab. Dis , vol.11 , pp. 144-150
    • Bargal, R.1    Bach, G.2
  • 18
    • 0035153514 scopus 로고    scopus 로고
    • Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis
    • Jansen, S.M., J.E. Groener, W. Bax, and B.J. Poorthuis. 2001. Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis. J. Inherit. Metab. Dis. 24:577-586.
    • (2001) J. Inherit. Metab. Dis , vol.24 , pp. 577-586
    • Jansen, S.M.1    Groener, J.E.2    Bax, W.3    Poorthuis, B.J.4
  • 20
    • 33744963797 scopus 로고    scopus 로고
    • Posttranslational cleavage and adaptor protein complex-dependent trafficking of mucolipin-1
    • Miedel, M.T., K.M. Weixel, J.R. Bruns, L.M. Traub, and O.A. 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
  • 21
    • 33748572921 scopus 로고    scopus 로고
    • Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic
    • Pryor, P.R., F. Reimann, F.M. Gribble, and J.P. 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
  • 22
    • 33644655372 scopus 로고    scopus 로고
    • Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes
    • Vergarajauregui, S., and 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
  • 23
    • 0032568565 scopus 로고    scopus 로고
    • Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease
    • Chen, C.S., G. Bach, and R.E. Pagano. 1998. Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. Proc. Natl. Acad. Sci. USA. 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
  • 24
    • 18744363612 scopus 로고    scopus 로고
    • Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway
    • LaPlante, J.M., J. Falardeau, M. Sun, M. Kanazirska, E.M. Brown, S.A. Slaugenhaupt, and P.M. 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
  • 27
    • 36749008553 scopus 로고    scopus 로고
    • Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice
    • Xu, H., M. Delling, L. Li, X. Dong, and D.E. 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
  • 31
    • 4444271489 scopus 로고    scopus 로고
    • CUPpling calcium to lysosomal biogenesis
    • Piper, R.C., and J.P. Luzio. 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
  • 32
    • 0034729167 scopus 로고    scopus 로고
    • The role of intraorganellar Ca2 + in late endosome-lysosome heterotypic fusion and in the reformation of lysosomes from hybrid organelles
    • Pryor, P.R., B.M. Mullock, N.A. Bright, S.R. Gray, and J.P. Luzio. 2000. The role of intraorganellar Ca2 + in late endosome-lysosome heterotypic fusion and in the reformation of lysosomes from hybrid organelles. J. Cell Biol. 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
  • 33
    • 1842428593 scopus 로고    scopus 로고
    • Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis
    • Treusch, S., S. Knuth, S.A. Slaugenhaupt, E. Goldin, B.D. Grant, and H. Fares. 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
  • 34
    • 33745685199 scopus 로고    scopus 로고
    • Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue
    • Schaheen, L., H. Dang, and H. Fares. 2006. Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue. Dev. Biol. 293:382-391.
    • (2006) Dev. Biol , vol.293 , pp. 382-391
    • Schaheen, L.1    Dang, H.2    Fares, H.3
  • 35
    • 0034811429 scopus 로고    scopus 로고
    • Genetic analysis of endocytosis in Caenorhabditis elegans: Coelomocyte uptake defective mutants
    • Fares, H., and I. Greenwald. 2001. Genetic analysis of endocytosis in Caenorhabditis elegans: coelomocyte uptake defective mutants. Genetics. 159:133-145.
    • (2001) Genetics , vol.159 , pp. 133-145
    • Fares, H.1    Greenwald, I.2
  • 36
    • 0035031192 scopus 로고    scopus 로고
    • Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog
    • Fares, H., and I. Greenwald. 2001. Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. Nat. Genet. 28:64-68.
    • (2001) Nat. Genet , vol.28 , pp. 64-68
    • Fares, H.1    Greenwald, I.2
  • 37
    • 15544362767 scopus 로고    scopus 로고
    • Physiological functions of CLC Cl - channels gleaned from human genetic disease and mouse models
    • Jentsch, T.J., M. Poet, J.C. Fuhrmann, and A.A. Zdebik. 2005. Physiological functions of CLC Cl - channels gleaned from human genetic disease and mouse models. Annu. Rev. Physiol. 67:779-807.
    • (2005) Annu. Rev. Physiol , vol.67 , pp. 779-807
    • Jentsch, T.J.1    Poet, M.2    Fuhrmann, J.C.3    Zdebik, A.A.4
  • 38
    • 0037762569 scopus 로고    scopus 로고
    • Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases
    • Pagano, R.E. 2003. Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases. Philos. Trans. R. Soc. Lond. B Biol. Sci. 358:885-891.
    • (2003) Philos. Trans. R. Soc. Lond. B Biol. Sci , vol.358 , pp. 885-891
    • Pagano, R.E.1
  • 39
    • 0032965433 scopus 로고    scopus 로고
    • Elevated lysosomal pH in Mucolipidosis type IV cells
    • Bach, G., C.S. Chen, and R.E. Pagano. 1999. Elevated lysosomal pH in Mucolipidosis type IV cells. Clin. Chim. Acta. 280:173-179.
    • (1999) Clin. Chim. Acta , vol.280 , pp. 173-179
    • Bach, G.1    Chen, C.S.2    Pagano, R.E.3
  • 40
    • 0028179245 scopus 로고
    • 14C]Methylamine accumulation in cultured human skin fibroblasts-a biochemical test for lysosomal storage and lysosomal diseases
    • Kopitz, J., C. Gerhard, P. Hofler, and M. Cantz. 1994. [14C]Methylamine accumulation in cultured human skin fibroblasts-a biochemical test for lysosomal storage and lysosomal diseases. Clin. Chim. Acta. 227:121-133.
    • (1994) Clin. Chim. Acta , vol.227 , pp. 121-133
    • Kopitz, J.1    Gerhard, C.2    Hofler, P.3    Cantz, M.4
  • 41
    • 0029029036 scopus 로고
    • Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent
    • Goldin, E., E.J. Blanchette-Mackie, N.K. Dwyer, P.G. Pentchev, and R.O. Brady. 1995. Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent. Pediatr. Res. 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
  • 42
    • 0033044219 scopus 로고    scopus 로고
    • Characterization of intracellular pH gradients in human multidrug-resistant tumor cells by means of scanning microspectrofluorometry and dual-emission-ratio probes
    • Belhoussine, R., H. Morjani, S. Sharonov, D. Ploton, and M. Manfait. 1999. Characterization of intracellular pH gradients in human multidrug-resistant tumor cells by means of scanning microspectrofluorometry and dual-emission-ratio probes. Int. J. Cancer. 81:81-89.
    • (1999) Int. J. Cancer , vol.81 , pp. 81-89
    • Belhoussine, R.1    Morjani, H.2    Sharonov, S.3    Ploton, D.4    Manfait, M.5
  • 43
    • 43049139220 scopus 로고    scopus 로고
    • Lysosomal trafficking functions of mucolipin-1 in murine macrophages
    • Thompson, E.G., L. Schaheen, H. Dang, and H. Fares. 2007. Lysosomal trafficking functions of mucolipin-1 in murine macrophages. BMC Cell Biol. 8:54.
    • (2007) BMC Cell Biol , vol.8 , pp. 54
    • Thompson, E.G.1    Schaheen, L.2    Dang, H.3    Fares, H.4
  • 44
    • 0030470972 scopus 로고    scopus 로고
    • Metabolic fate of oleic acid derived from lysosomal degradation of cholesteryl oleate in human fibroblasts
    • Groener, J.E., W. Bax, and B.J. Poorthuis. 1996. Metabolic fate of oleic acid derived from lysosomal degradation of cholesteryl oleate in human fibroblasts. J. Lipid Res. 37:2271-2279.
    • (1996) J. Lipid Res , vol.37 , pp. 2271-2279
    • Groener, J.E.1    Bax, W.2    Poorthuis, B.J.3
  • 47
    • 0038731763 scopus 로고    scopus 로고
    • Acidification and protein traffic
    • Weisz, O.A. 2003. Acidification and protein traffic. Int. Rev. Cytol. 226:259-319.
    • (2003) Int. Rev. Cytol , vol.226 , pp. 259-319
    • Weisz, O.A.1
  • 48
    • 33749464296 scopus 로고    scopus 로고
    • Mechanisms for cellular cholesterol transport: Defects and human disease
    • Ikonen, E. 2006. Mechanisms for cellular cholesterol transport: defects and human disease. Physiol. Rev. 86:1237-1261.
    • (2006) Physiol. Rev , vol.86 , pp. 1237-1261
    • Ikonen, E.1
  • 49
    • 28444479505 scopus 로고    scopus 로고
    • Role of cholesterol and lipid organization in disease
    • Maxfield, F.R., and I. Tabas. 2005. Role of cholesterol and lipid organization in disease. Nature. 438:612-621.
    • (2005) Nature , vol.438 , pp. 612-621
    • Maxfield, F.R.1    Tabas, I.2
  • 53
    • 0024806282 scopus 로고
    • In vitro incorporation of radiolabeled cholesteryl esters into high and low density lipoproteins
    • Terpstra, A.H., R.J. Nicolosi, and P.N. Herbert. 1989. In vitro incorporation of radiolabeled cholesteryl esters into high and low density lipoproteins. J. Lipid Res. 30:1663-1671.
    • (1989) J. Lipid Res , vol.30 , pp. 1663-1671
    • Terpstra, A.H.1    Nicolosi, R.J.2    Herbert, P.N.3
  • 54
    • 0016836301 scopus 로고
    • Receptor-dependent hydrolysis of cholesteryl esters contained in plasma low density lipoprotein
    • Brown, M.S., S.E. Dana, and J.L. Goldstein. 1975. Receptor-dependent hydrolysis of cholesteryl esters contained in plasma low density lipoprotein. Proc. Natl. Acad. Sci. USA. 72:2925-2929
    • (1975) Proc. Natl. Acad. Sci. USA , vol.72 , pp. 2925-2929
    • Brown, M.S.1    Dana, S.E.2    Goldstein, J.L.3


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