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Disease relevance of Mucolipidoses


High impact information on Mucolipidoses

  • Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis [6].
  • Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase [7].
  • Mucolipidosis II (ML II) is a fatal lysosomal storage disorder resulting from defects in the multimeric GlcNAc-1-phosphotransferase responsible for the initial step in the generation of the mannose 6-phosphate (M6P) recognition marker [7].
  • The human lysosomal enzyme occurs in complex with beta-galactosidase and protective protein/cathepsin A (PPCA), and is deficient in two genetic disorders: sialidosis, caused by a structural defect in the neuraminidase gene, and galactosialidosis, in which the loss of neuraminidase activity is secondary to a deficiency of PPCA [8].
  • Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity [9].

Chemical compound and disease context of Mucolipidoses


Biological context of Mucolipidoses


Anatomical context of Mucolipidoses


Gene context of Mucolipidoses

  • Mutations in the MCOLN1 gene cause mucolipidosis type IV (MLIV), a severely debilitating, autosomal recessive, lysosomal storage disorder [23].
  • In man two genetically distinct storage disorders are associated with either a primary or a secondary deficiency of lysosomal neuraminidase: sialidosis and galactosialidosis [24].
  • We report that fibroblasts isolated from patients affected with inclusion-cell disease (ICD), having a deficient activity of almost all lysosomal hydrolases, are resistant to the toxic effect of TNF [25].
  • It is well established, however, that the lysosomes of I-cell disease (ICD) patients have near normal levels of several lysosomal proteins, including prosaposin and GM2AP [26].
  • Human lysosomal N-acetyl-alpha-neuraminidase is deficient in two lysosomal storage disorders, sialidosis, caused by structural mutations in the neuraminidase gene, and galactosialidosis, in which a primary defect of protective protein/cathepsin A (PPCA) leads to a combined deficiency of neuraminidase and beta-D-galactosidase [27].

Analytical, diagnostic and therapeutic context of Mucolipidoses


  1. Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. Fares, H., Greenwald, I. Nat. Genet. (2001) [Pubmed]
  2. Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells. Seyrantepe, V., Landry, K., Trudel, S., Hassan, J.A., Morales, C.R., Pshezhetsky, A.V. J. Biol. Chem. (2004) [Pubmed]
  3. Bilateral carpal tunnel syndrome in childhood. A report of two sisters with mucolipidosis III (pseudo-Hurler polydystrophy). Starreveld, E., Ashenhurst, E.M. Neurology (1975) [Pubmed]
  4. Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system. Martin, J.J., Ceuterick, C. J. Neurol. Neurosurg. Psychiatr. (1978) [Pubmed]
  5. Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency. Mueller, O.T., Shows, T.B. Hum. Genet. (1982) [Pubmed]
  6. Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. Pshezhetsky, A.V., Richard, C., Michaud, L., Igdoura, S., Wang, S., Elsliger, M.A., Qu, J., Leclerc, D., Gravel, R., Dallaire, L., Potier, M. Nat. Genet. (1997) [Pubmed]
  7. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Tiede, S., Storch, S., Lübke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A., Braulke, T. Nat. Med. (2005) [Pubmed]
  8. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. Bonten, E., van der Spoel, A., Fornerod, M., Grosveld, G., d'Azzo, A. Genes Dev. (1996) [Pubmed]
  9. Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. Reitman, M.L., Varki, A., Kornfeld, S. J. Clin. Invest. (1981) [Pubmed]
  10. Targeted disruption of the M(r) 46,000 mannose 6-phosphate receptor gene in mice results in misrouting of lysosomal proteins. Köster, A., Saftig, P., Matzner, U., von Figura, K., Peters, C., Pohlmann, R. EMBO J. (1993) [Pubmed]
  11. The role of lysosomal enzymes in killing of mammalian cells by the lysosomotropic detergent N-dodecylimidazole. Wilson, P.D., Firestone, R.A., Lenard, J. J. Cell Biol. (1987) [Pubmed]
  12. Mannose 6-phosphate-independent targeting of lysosomal enzymes in I-cell disease B lymphoblasts. Glickman, J.N., Kornfeld, S. J. Cell Biol. (1993) [Pubmed]
  13. The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types. Hersh, B.M., Hartwieg, E., Horvitz, H.R. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  14. Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations. Ben-Yoseph, Y., Mitchell, D.A., Yager, R.M., Wei, J.T., Chen, T.H., Shih, L.Y. Am. J. Hum. Genet. (1992) [Pubmed]
  15. Stress-induced apoptosis is impaired in cells with a lysosomal targeting defect but is not affected in cells synthesizing a catalytically inactive cathepsin D. Tardy, C., Tyynelä, J., Hasilik, A., Levade, T., Andrieu-Abadie, N. Cell Death Differ. (2003) [Pubmed]
  16. Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in the I cell disease heterozygote. Van Elsen, A.F., Leroy, J.G., VanneuvilleFJ, n.u.l.l., Vercruyssen, A.L. Hum. Genet. (1976) [Pubmed]
  17. Abnormal lysosomal sorting with an enhanced secretion of cathepsin D precursor molecules bearing monoester phosphate groups. Faulhaber, J., Fensom, A., Hasilik, A. Eur. J. Cell Biol. (1998) [Pubmed]
  18. Properties of N-acetylglucosamine 1-phosphotransferase from human lymphoblasts. Little, L., Alcouloumre, M., Drotar, A.M., Herman, S., Robertson, R., Yeh, R.Y., Miller, A.L. Biochem. J. (1987) [Pubmed]
  19. I-cell disease (mucolipidosis II):a report on its pathology. Martin, J.J., Leroy, J.G., Farriaux, J.P., Fontaine, G., Desnick, R.J., Cabello, A. Acta Neuropathol. (1975) [Pubmed]
  20. Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging. Bonavita, S., Virta, A., Jeffries, N., Goldin, E., Tedeschi, G., Schiffmann, R. J. Child Neurol. (2003) [Pubmed]
  21. Prenatal diagnosis of I-cell disease in the first and second trimesters. Parvathy, M.R., Mitchell, D.A., Ben-Yoseph, Y. Am. J. Med. Sci. (1989) [Pubmed]
  22. Study of the bone pathology in early mucolipidosis II (I-cell disease). Pazzaglia, U.E., Beluffi, G., Bianchi, E., Castello, A., Coci, A., Marchi, A. Eur. J. Pediatr. (1989) [Pubmed]
  23. Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. Edelmann, L., Dong, J., Desnick, R.J., Kornreich, R. Am. J. Hum. Genet. (2002) [Pubmed]
  24. A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse. Rottier, R.J., Bonten, E., d'Azzo, A. Hum. Mol. Genet. (1998) [Pubmed]
  25. Mannose 6-phosphorylated proteins are required for tumor necrosis factor-induced apoptosis: defective response in I-cell disease fibroblasts. Tardy, C., Autefage, H., Garcia, V., Levade, T., Andrieu-Abadie, N. J. Biol. Chem. (2004) [Pubmed]
  26. The trafficking of prosaposin (SGP-1) and GM2AP to the lysosomes of TM4 Sertoli cells is mediated by sortilin and monomeric adaptor proteins. Hassan, A.J., Zeng, J., Ni, X., Morales, C.R. Mol. Reprod. Dev. (2004) [Pubmed]
  27. Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A. van der Spoel, A., Bonten, E., d'Azzo, A. EMBO J. (1998) [Pubmed]
  28. Pediatric median mononeuropathies: a clinical and electromyographic study. Deymeer, F., Jones, H.R. Muscle Nerve (1994) [Pubmed]
  29. Isoelectric focusing of acid hydrolases in human liver and serum. Findings in sera from one patient with I-cell disease phenotype. Hultberg, B. Clin. Chim. Acta (1978) [Pubmed]
  30. Isolation and structural characterization of sialic acid-containing storage material from mucolipidosis I (sialidosis) fibroblasts. van Pelt, J., Kamerling, J.P., Vliegenthart, J.F., Verheijen, F.W., Galjaard, H. Biochim. Biophys. Acta (1988) [Pubmed]
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