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The goal of this study was to examine global alterations in gene …


Biology Articles » Biochemistry » Lipid Biochemistry » Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients » References

References
- Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients

  1. Treiber-Held S, Budjarjo-Welim H, Reimann D, Richter J, Kretzschmar HA, Hanefeld F: Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair.

    Neuropediatrics 1994, 25(2):89-93.

  2. Carpenter S, Karpati G, Andermann F, Gold R: Giant axonal neuropathy. A clinically and morphologically distinct neurological disease.

    Arch Neurol 1974, 31(5):312-316.

  3. Prineas JW, Ouvrier RA, Wright RG, Walsh JC, McLeod JG: Gian axonal neuropathy--a generalized disorder of cytoplasmic microfilament formation.

    J Neuropathol Exp Neurol 1976, 35(4):458-470.

  4. Klymkowsky MW, Plummer DJ: Giant axonal neuropathy: a conditional mutation affecting cytoskeletal organization.

    J Cell Biol 1985, 100(1):245-250.

  5. Bomont P, Koenig M: Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.

    Hum Mol Genet 2003, 12(8):813-822.

  6. Manetti R, Ceccarini C, Guazzi G, Federico A, Tiezzi A, Bugnoli M, Ceccarini EC: Characterization of the intermediate filament apparatus in skin fibroblasts from patients with giant axonal neuropathy: effect of trypsin.

    Cell Motil Cytoskeleton 1987, 8(1):55-60.

  7. Bousquet O, Basseville M, Vila-Porcile E, Billette de Villemeur T, Hauw JJ, Landrieu P, Portier MM: Aggregation of a subpopulation of vimentin filaments in cultured human skin fibroblasts derived from patients with giant axonal neuropathy.

    Cell Motil Cytoskeleton 1996, 33(2):115-129.

  8. Kuhlenbaumer G, Young P, Oberwittler C, Hunermund G, Schirmacher A, Domschke K, Ringelstein B, Stogbauer F: Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.

    Neurology 2002, 58(8):1273-1276.

  9. Bomont P, Ioos C, Yalcinkaya C, Korinthenberg R, Vallat JM, Assami S, Munnich A, Chabrol B, Kurlemann G, Tazir M, Koenig M: Identification of seven novel mutations in the GAN gene.

    Hum Mutat 2003, 21(4):446.

  10. Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tuysuz B, Landrieu P, Hentati F, Koenig M: The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

    Nat Genet 2000, 26(3):370-374.

  11. Allen E, Ding J, Wang W, Pramanik S, Chou J, Yau V, Yang Y: Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.

    Nature 2005, 438(7065):224-228.

  12. Ding J, Allen E, Wang W, Valle A, Wu C, Nardine T, Cui B, Yi J, Taylor A, Jeon NL, Chu S, So Y, Vogel H, Tolwani R, Mobley W, Yang Y: Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport.

    Hum Mol Genet 2006, 15(9):1451-1463.

  13. Ding J, Liu JJ, Kowal AS, Nardine T, Bhattacharya P, Lee A, Yang Y: Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin.

    J Cell Biol 2002, 158(3):427-433.

  14. Wang W, Ding J, Allen E, Zhu P, Zhang L, Vogel H, Yang Y: Gigaxonin Interacts with Tubulin Folding Cofactor B and Controls Its Degradation through the Ubiquitin-Proteasome Pathway.

    Curr Biol 2005, 15(22):2050-2055.

  15. Kaminski WE, Wenzel JJ, Piehler A, Langmann T, Schmitz G: ABCA6, a novel a subclass ABC transporter.

    Biochem Biophys Res Commun 2001, 285(5):1295-1301.

  16. Dixon PH, Weerasekera N, Linton KJ, Donaldson O, Chambers J, Egginton E, Weaver J, Nelson-Piercy C, de Swiet M, Warnes G, Elias E, Higgins CF, Johnston DG, McCarthy MI, Williamson C: Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.

    Hum Mol Genet 2000, 9(8):1209-1217.

  17. Makowski L, Hotamisligil GS: Fatty acid binding proteins--the evolutionary crossroads of inflammatory and metabolic responses.

    J Nutr 2004, 134(9):2464S-2468S.

  18. Kurisaki T, Masuda A, Sudo K, Sakagami J, Higashiyama S, Matsuda Y, Nagabukuro A, Tsuji A, Nabeshima Y, Asano M, Iwakura Y, Sehara-Fujisawa A: Phenotypic analysis of Meltrin alpha (ADAM12)-deficient mice: involvement of Meltrin alpha in adipogenesis and myogenesis.

    Mol Cell Biol 2003, 23(1):55-61.

  19. Cianflone K, Xia Z, Chen LY: Critical review of acylation-stimulating protein physiology in humans and rodents.

    Biochim Biophys Acta 2003, 1609(2):127-143.

  20. Kalman J, Juhasz A, Rakonczay Z, Abraham G, Zana M, Boda K, Farkas T, Penke B, Janka Z: Increased serum butyrylcholinesterase activity in type IIb hyperlipidaemic patients.

    Life Sci 2004, 75(10):1195-1204.

  21. Chang TY, Chang CC, Lin S, Yu C, Li BL, Miyazaki A: Roles of acyl-coenzyme A:cholesterol acyltransferase-1 and -2.

    Curr Opin Lipidol 2001, 12(3):289-296.

  22. Otero M, Lago R, Lago F, Casanueva FF, Dieguez C, Gomez-Reino JJ, Gualillo O: Leptin, from fat to inflammation: old questions and new insights.

    FEBS Lett 2005, 579(2):295-301.

  23. Evans RM: Intermediate filaments and lipoprotein cholesterol.

    Trends Cell Biol 1994, 4(5):149-151.

  24. Franke WW, Hergt M, Grund C: Rearrangement of the vimentin cytoskeleton during adipose conversion: formation of an intermediate filament cage around lipid globules.

    Cell 1987, 49(1):131-141.

  25. Almahbobi G, Hall PF: The role of intermediate filaments in adrenal steroidogenesis.

    J Cell Sci 1990, 97 ( Pt 4):679-687.

  26. Almahbobi G, Williams LJ, Hall PF: Attachment of steroidogenic lipid droplets to intermediate filaments in adrenal cells.

    J Cell Sci 1992, 101 ( Pt 2):383-393.

  27. Almahbobi G, Hall PF: Indirect immunofluorescence modified to display two antigens with one light filter.

    Histochem J 1993, 25(1):14-18.

  28. Traub P, Perides G, Kuhn S, Scherbarth A: Efficient interaction of nonpolar lipids with intermediate filaments of the vimentin type.

    Eur J Cell Biol 1987, 43(1):55-64.

  29. Traub P, Perides G, Scherbarth A, Traub U: Tenacious binding of lipids to vimentin during its isolation and purification from Ehrlich ascites tumor cells.

    FEBS Lett 1985, 193(2):217-221.

  30. Lieber JG, Evans RM: Disruption of the vimentin intermediate filament system during adipose conversion of 3T3-L1 cells inhibits lipid droplet accumulation.

    J Cell Sci 1996, 109 ( Pt 13):3047-3058.

  31. Colucci-Guyon E, Portier MM, Dunia I, Paulin D, Pournin S, Babinet C: Mice lacking vimentin develop and reproduce without an obvious phenotype.

    Cell 1994, 79(4):679-694.

  32. Galou M, Colucci-Guyon E, Ensergueix D, Ridet JL, Gimenez y Ribotta M, Privat A, Babinet C, Dupouey P: Disrupted glial fibrillary acidic protein network in astrocytes from vimentin knockout mice.

    J Cell Biol 1996, 133(4):853-863.

  33. Gimenez YRM, Langa F, Menet V, Privat A: Comparative anatomy of the cerebellar cortex in mice lacking vimentin, GFAP, and both vimentin and GFAP.

    Glia 2000, 31(1):69-83.

  34. Gillard BK, Clement R, Colucci-Guyon E, Babinet C, Schwarzmann G, Taki T, Kasama T, Marcus DM: Decreased synthesis of glycosphingolipids in cells lacking vimentin intermediate filaments.

    Exp Cell Res 1998, 242(2):561-572.

  35. Ching GY, Liem RK: Assembly of type IV neuronal intermediate filaments in nonneuronal cells in the absence of preexisting cytoplasmic intermediate filaments.

    J Cell Biol 1993, 122(6):1323-1335.

  36. Livak KJ, Schmittgen TD: Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method.

    Methods 2001, 25(4):402-408.


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