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Volumn 1782, Issue 4, 2008, Pages 250-258

Gene expression profiling of mucolipidosis type IV fibroblasts reveals deregulation of genes with relevant functions in lysosome physiology

Author keywords

Gene expression profiling; Gene ontology; Lysosomal diseases; Microarray; Mucolipidosis type IV

Indexed keywords

ARTICLE; CONTROLLED STUDY; DOWN REGULATION; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE IDENTIFICATION; HUMAN; HUMAN CELL; LYSOSOME; MICROARRAY ANALYSIS; MUCOLIPIDOSIS; MUCOLIPIDOSIS TYPE 4; PATHOGENESIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST; UPREGULATION;

EID: 40849137621     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2008.01.002     Document Type: Article
Times cited : (12)

References (49)
  • 1
    • 0023230993 scopus 로고
    • Mucolipidosis type IV: clinical spectrum and natural history
    • Amir N., Zlotogora J., and Bach G. Mucolipidosis type IV: clinical spectrum and natural history. Pediatrics 79 (1987) 953-959
    • (1987) Pediatrics , vol.79 , pp. 953-959
    • Amir, N.1    Zlotogora, J.2    Bach, G.3
  • 2
    • 0016055082 scopus 로고
    • Congenital corneal clouding with abnormal systemic storage bodies: a new variant of mucolipidosis
    • Berman E.R., Livni N., Shapira E., Merin S., and Levij I.S. Congenital corneal clouding with abnormal systemic storage bodies: a new variant of mucolipidosis. J Pediatr 84 (1974) 519-526
    • (1974) J Pediatr , vol.84 , pp. 519-526
    • Berman, E.R.1    Livni, N.2    Shapira, E.3    Merin, S.4    Levij, I.S.5
  • 3
    • 0034894817 scopus 로고    scopus 로고
    • Mucolipidosis type IV
    • Bach G. Mucolipidosis type IV. Mol. Genet. Metab. 73 (2001) 197-203
    • (2001) Mol. Genet. Metab. , vol.73 , pp. 197-203
    • Bach, G.1
  • 4
    • 0023747054 scopus 로고
    • Phospholipids accumulation in mucolipidosis IV cultured fibroblasts
    • Bargal R., and Bach G. Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. J. Inherit. Metab. Dis. 11 (1988) 144-150
    • (1988) J. Inherit. Metab. Dis. , vol.11 , pp. 144-150
    • Bargal, R.1    Bach, G.2
  • 5
    • 0017705230 scopus 로고
    • Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV
    • Bach G., Ziegler M., Kohn G., and Cohen M.M. Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV. Am. J. Hum. Genet. 29 (1977) 610-618
    • (1977) Am. J. Hum. Genet. , vol.29 , pp. 610-618
    • Bach, G.1    Ziegler, M.2    Kohn, G.3    Cohen, M.M.4
  • 6
    • 0029029036 scopus 로고
    • Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent
    • Goldin E., Blanchette-Mackie E.J., Dwyer N.K., Pentchev P.G., and Brady R.O. Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent. Pediatr. Res. 37 (1995) 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
  • 7
    • 0030805283 scopus 로고    scopus 로고
    • Mucolipidosis type IV: abnormal transport of lipids to lysosomes
    • Bargal R., and Bach G. Mucolipidosis type IV: abnormal transport of lipids to lysosomes. J. Inherit. Metab. Dis. 20 (1997) 625-632
    • (1997) J. Inherit. Metab. Dis. , vol.20 , pp. 625-632
    • Bargal, R.1    Bach, G.2
  • 8
    • 0022592529 scopus 로고
    • Internalization of exogenous gangliosides in cultured skin fibroblasts for the diagnosis of mucolipidosis IV
    • Zeigler M., and Bach G. Internalization of exogenous gangliosides in cultured skin fibroblasts for the diagnosis of mucolipidosis IV. Clin. Chim. Acta. 157 (1986) 183-189
    • (1986) Clin. Chim. Acta. , vol.157 , pp. 183-189
    • Zeigler, M.1    Bach, G.2
  • 9
    • 0032568565 scopus 로고    scopus 로고
    • Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease
    • Chen C.S., Bach G., and Pagano R.E. Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. Proc. Natl. Acad. Sci. U. S. A. 95 (1998) 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
  • 10
    • 0035153514 scopus 로고    scopus 로고
    • Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis
    • Jansen S.M., Groener J.E., Bax W., and Poorthuis B.J. Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis. J. Inherit. Metab. Dis. 24 (2001) 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
  • 13
    • 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., Manzoni M., Monti E., Pizzo M.T., Ballabio A., and 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. 67 (2000) 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
  • 15
    • 33644655372 scopus 로고    scopus 로고
    • Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes
    • Vergarajauregui S., and Puertollano R. Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes. Traffic (Copenhagen, Denmark) 7 (2006) 337-353
    • (2006) Traffic (Copenhagen, Denmark) , vol.7 , pp. 337-353
    • Vergarajauregui, S.1    Puertollano, R.2
  • 16
    • 33748572921 scopus 로고    scopus 로고
    • Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic
    • Pryor P.R., Reimann F., Gribble F.M., and Luzio J.P. Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic. Traffic (Copenhagen, Denmark) 7 (2006) 1388-1398
    • (2006) Traffic (Copenhagen, Denmark) , vol.7 , pp. 1388-1398
    • Pryor, P.R.1    Reimann, F.2    Gribble, F.M.3    Luzio, J.P.4
  • 17
    • 2942529414 scopus 로고    scopus 로고
    • 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. Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization. FEBS Lett. 567 (2004) 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
    • 0037007142 scopus 로고    scopus 로고
    • The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types
    • Hersh B.M., Hartwieg E., and Horvitz H.R. The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types. Proc. Natl. Acad. Sci. U. S. A. 99 (2002) 4355-4360
    • (2002) Proc. Natl. Acad. Sci. U. S. A. , vol.99 , pp. 4355-4360
    • Hersh, B.M.1    Hartwieg, E.2    Horvitz, H.R.3
  • 21
    • 0035031192 scopus 로고    scopus 로고
    • Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog
    • Fares H., and Greenwald I. Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. Nat. Genet. 28 (2001) 64-68
    • (2001) Nat. Genet. , vol.28 , pp. 64-68
    • Fares, H.1    Greenwald, I.2
  • 22
    • 1842428593 scopus 로고    scopus 로고
    • 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. Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 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
  • 23
    • 33644872577 scopus 로고    scopus 로고
    • Gentleman R., Carey V., Huber W., Irizarry R., and Dudoit S. (Eds), Springer, New York
    • Smyth G.K. In: Gentleman R., Carey V., Huber W., Irizarry R., and Dudoit S. (Eds). Limma: Linear Models for Microarray Data (2005), Springer, New York 397-420
    • (2005) Limma: Linear Models for Microarray Data , pp. 397-420
    • Smyth, G.K.1
  • 25
    • 1342294092 scopus 로고    scopus 로고
    • Normalization for cDNA microarray data: a robust composite method addressing single and multiple slide systematic variation
    • Yang Y.H., Dudoit S., Luu P., Lin D.M., Peng V., Ngai J., and Speed T.P. Normalization for cDNA microarray data: a robust composite method addressing single and multiple slide systematic variation. Nucleic Acids Res. 30 (2002) e15
    • (2002) Nucleic Acids Res. , vol.30
    • Yang, Y.H.1    Dudoit, S.2    Luu, P.3    Lin, D.M.4    Peng, V.5    Ngai, J.6    Speed, T.P.7
  • 26
    • 0035829361 scopus 로고    scopus 로고
    • Controlling the false discovery rate in behavior genetics research
    • Benjamini Y., Drai D., Elmer G., Kafkafi N., and Golani I. Controlling the false discovery rate in behavior genetics research. Behav. Brain Res. 125 (2001) 279-284
    • (2001) Behav. Brain Res. , vol.125 , pp. 279-284
    • Benjamini, Y.1    Drai, D.2    Elmer, G.3    Kafkafi, N.4    Golani, I.5
  • 27
    • 0038048164 scopus 로고    scopus 로고
    • Statistical issues in cDNA microarray data analysis
    • Smyth G.K., Yang Y.H., and Speed T. Statistical issues in cDNA microarray data analysis. Methods Mol. Biol. 224 (2003) 111-136
    • (2003) Methods Mol. Biol. , vol.224 , pp. 111-136
    • Smyth, G.K.1    Yang, Y.H.2    Speed, T.3
  • 29
    • 0042121055 scopus 로고    scopus 로고
    • Onto-Tools, the toolkit of the modern biologist: Onto-Express, Onto-Compare, Onto-Design and Onto-Translate
    • Draghici S., Khatri P., Bhavsar P., Shah A., Krawetz S.A., and Tainsky M.A. Onto-Tools, the toolkit of the modern biologist: Onto-Express, Onto-Compare, Onto-Design and Onto-Translate. Nucleic Acids Res. 31 (2003) 3775-3781
    • (2003) Nucleic Acids Res. , vol.31 , pp. 3775-3781
    • Draghici, S.1    Khatri, P.2    Bhavsar, P.3    Shah, A.4    Krawetz, S.A.5    Tainsky, M.A.6
  • 30
    • 17344392308 scopus 로고    scopus 로고
    • A new mathematical model for relative quantification in real-time RT-PCR
    • Pfaffl M.W. A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res. 29 (2001) e45
    • (2001) Nucleic Acids Res. , vol.29
    • Pfaffl, M.W.1
  • 35
    • 2342508995 scopus 로고    scopus 로고
    • Numerous transcriptional alterations in liver persist after short-term enzyme-replacement therapy in a murine model of mucopolysaccharidosis type VII
    • Woloszynek J.C., Roberts M., Coleman T., Vogler C., Sly W., Semenkovich C.F., and Sands M.S. Numerous transcriptional alterations in liver persist after short-term enzyme-replacement therapy in a murine model of mucopolysaccharidosis type VII. Biochem. J. 379 (2004) 461-469
    • (2004) Biochem. J. , vol.379 , pp. 461-469
    • Woloszynek, J.C.1    Roberts, M.2    Coleman, T.3    Vogler, C.4    Sly, W.5    Semenkovich, C.F.6    Sands, M.S.7
  • 36
    • 0033214905 scopus 로고    scopus 로고
    • Mouse transporter protein, a membrane protein that regulates cellular multidrug resistance, is localized to lysosomes
    • Cabrita M.A., Hobman T.C., Hogue D.L., King K.M., and Cass C.E. Mouse transporter protein, a membrane protein that regulates cellular multidrug resistance, is localized to lysosomes. Cancer Res. 59 (1999) 4890-4897
    • (1999) Cancer Res. , vol.59 , pp. 4890-4897
    • Cabrita, M.A.1    Hobman, T.C.2    Hogue, D.L.3    King, K.M.4    Cass, C.E.5
  • 37
    • 33751212452 scopus 로고    scopus 로고
    • Transport of LAPTM5 to lysosomes requires association with the ubiquitin ligase Nedd4, but not LAPTM5 ubiquitination
    • Pak Y., Glowacka W.K., Bruce M.C., Pham N., and Rotin D. Transport of LAPTM5 to lysosomes requires association with the ubiquitin ligase Nedd4, but not LAPTM5 ubiquitination. J. Cell Biol. 175 (2006) 631-645
    • (2006) J. Cell Biol. , vol.175 , pp. 631-645
    • Pak, Y.1    Glowacka, W.K.2    Bruce, M.C.3    Pham, N.4    Rotin, D.5
  • 40
    • 0035980119 scopus 로고    scopus 로고
    • Association of insulin-like growth factor 1 receptor with EHD1 and SNAP29
    • Rotem-Yehudar R., Galperin E., and Horowitz M. Association of insulin-like growth factor 1 receptor with EHD1 and SNAP29. J. Biol. Chem. 276 (2001) 33054-33060
    • (2001) J. Biol. Chem. , vol.276 , pp. 33054-33060
    • Rotem-Yehudar, R.1    Galperin, E.2    Horowitz, M.3
  • 42
    • 0032965433 scopus 로고    scopus 로고
    • Elevated lysosomal pH in Mucolipidosis type IV cells
    • Bach G., Chen C.S., and Pagano R.E. Elevated lysosomal pH in Mucolipidosis type IV cells. Clin. Chim. Acta 280 (1999) 173-179
    • (1999) Clin. Chim. Acta , vol.280 , pp. 173-179
    • Bach, G.1    Chen, C.S.2    Pagano, R.E.3
  • 43
    • 0036566039 scopus 로고    scopus 로고
    • Endolysosomal proteolysis and its regulation
    • Pillay C.S., Elliott E., and Dennison C. Endolysosomal proteolysis and its regulation. Biochem. J. 363 (2002) 417-429
    • (2002) Biochem. J. , vol.363 , pp. 417-429
    • Pillay, C.S.1    Elliott, E.2    Dennison, C.3
  • 44
    • 3542998744 scopus 로고    scopus 로고
    • Diverse and essential roles of mammalian vacuolar-type proton pump ATPase: toward the physiological understanding of inside acidic compartments
    • Sun-Wada G.H., Wada Y., and Futai M. Diverse and essential roles of mammalian vacuolar-type proton pump ATPase: toward the physiological understanding of inside acidic compartments. Biochim. Biophys. Acta 1658 (2004) 106-114
    • (2004) Biochim. Biophys. Acta , vol.1658 , pp. 106-114
    • Sun-Wada, G.H.1    Wada, Y.2    Futai, M.3
  • 46
    • 0032751795 scopus 로고    scopus 로고
    • Nonphysiological overexpression of low-density lipoprotein receptors causes pathological intracellular lipid accumulation and the formation of cholesterol and cholesteryl ester crystals in vitro
    • Heeren J., Steinwaerder D.S., Schnieders F., Cichon G., Strauss M., and Beisiegel U. Nonphysiological overexpression of low-density lipoprotein receptors causes pathological intracellular lipid accumulation and the formation of cholesterol and cholesteryl ester crystals in vitro. J. Mol. Med. 77 (1999) 735-743
    • (1999) J. Mol. Med. , vol.77 , pp. 735-743
    • Heeren, J.1    Steinwaerder, D.S.2    Schnieders, F.3    Cichon, G.4    Strauss, M.5    Beisiegel, U.6
  • 49
    • 42749105853 scopus 로고    scopus 로고
    • Multifractal spectra of mean first-passage-time distributions in disordered chains
    • Pury P.A., and Caceres M.O. Multifractal spectra of mean first-passage-time distributions in disordered chains. Phys. Rev. 67 (2003) 061106
    • (2003) Phys. Rev. , vol.67 , pp. 061106
    • Pury, P.A.1    Caceres, M.O.2


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