1 |
Eckl, K. M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M. L., Onal-Akan, A., Stock, F., Muller, D., Becker, K., Casper, R., Nurnberg, G., Altmuller, J., Nurnberg, P., Traupe, H., Futerman, A. H. and Hennies, H. C. (2013) Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J. Invest. Dermatol. 133, 2202-2211.
DOI
ScienceOn
|
2 |
Edvardson, S., Hama, H., Shaag, A., Gomori, J. M., Berger, I., Soffer, D., Korman, S. H., Taustein, I., Saada, A. and Elpeleg, O. (2008) Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am. J. Hum. Genet. 83, 643-648.
DOI
ScienceOn
|
3 |
Ejsing, C. S., Sampaio, J. L., Surendranath, V., Duchoslav, E., Ekroos, K., Klemm, R. W., Simons, K. and Shevchenko, A. (2009) Global analysis of the yeast lipidome by quantitative shotgun mass spectrometry. Proc. Natl. Acad. Sci. U.S.A. 106, 2136-2141.
DOI
ScienceOn
|
4 |
Elias, P. M., Williams, M. L. and Feingold, K. R. (2012) Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders. Clin. Dermatol. 30, 311-322.
DOI
ScienceOn
|
5 |
Engelen, M., Tran, L., Ofman, R., Brennecke, J., Moser, A. B., Dijkstra, I. M., Wanders, R. J., Poll-The, B. T. and Kemp, S. (2012) Bezafibrate for X-linked adrenoleukodystrophy. PLoS One 7, e41013.
DOI
|
6 |
Furland, N. E., Oresti, G. M., Antollini, S. S., Venturino, A., Maldonado, E. N. and Aveldano, M. I. (2007a) Very long-chain polyunsaturated fatty acids are the major acyl groups of sphingomyelins and ceramides in the head of mammalian spermatozoa. J. Biol. Chem. 282, 18151-18161.
DOI
ScienceOn
|
7 |
Furland, N. E., Zanetti, S. R., Oresti, G. M., Maldonado, E. N. and Aveldano, M. I. (2007b) Ceramides and sphingomyelins with high proportions of very long-chain polyunsaturated fatty acids in mammalian germ cells. J. Biol. Chem. 282, 18141-18150.
DOI
ScienceOn
|
8 |
Aldahmesh, M. A., Mohamed, J. Y., Alkuraya, H. S., Verma, I. C., Puri, R. D., Alaiya, A. A., Rizzo, W. B. and Alkuraya, F. S. (2011) Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am. J. Hum. Genet. 89, 745-750.
DOI
ScienceOn
|
9 |
Alderson, N. L., Maldonado, E. N., Kern, M. J., Bhat, N. R. and Hama, H. (2006) FA2H-dependent fatty acid 2-hydroxylation in postnatal mouse brain. J. Lipid Res. 47, 2772-2780.
DOI
ScienceOn
|
10 |
Aveldano, M. I. and Sprecher, H. (1987) Very long chain () polyenoic fatty acids of the n-3 and n-6 series in dipolyunsaturated phosphatidylcholines from bovine retina. J. Biol. Chem. 262, 1180-1186.
|
11 |
Bannenberg, G. and Serhan, C. N. (2010) Specialized pro-resolving lipid mediators in the inflammatory response: An update. Biochim. Biophys. Acta 1801, 1260-1273.
DOI
ScienceOn
|
12 |
Bazan, N. G., Calandria, J. M. and Serhan, C. N. (2010) Rescue and repair during photoreceptor cell renewal mediated by docosahexaenoic acid-derived neuroprotectin D1. J. Lipid Res. 51, 2018-2031.
DOI
ScienceOn
|
13 |
Becker, I., Wang-Eckhardt, L., Yaghootfam, A., Gieselmann, V. and Eckhardt, M. (2008) Differential expression of (dihydro)ceramide synthases in mouse brain: oligodendrocyte-specific expression of CerS2/Lass2. Histochem. Cell Biol. 129, 233-241.
DOI
|
14 |
Berger, J., Pujol, A., Aubourg, P. and Forss-Petter, S. (2010) Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy. Brain Pathol. 20, 845-856.
DOI
ScienceOn
|
15 |
Butovich, I. A., Wojtowicz, J. C. and Molai, M. (2009) Human tear film and meibum. Very long chain wax esters and (O-acyl)-omega-hydroxy fatty acids of meibum. J. Lipid Res. 50, 2471-2485.
DOI
ScienceOn
|
16 |
Breiden, B. and Sandhoff, K. (2014) The role of sphingolipid metabolism in cutaneous permeability barrier formation. Biochim. Biophys. Acta 1841, 441-452.
DOI
ScienceOn
|
17 |
Butovich, I. A. (2010) Fatty acid composition of cholesteryl esters of human meibomian gland secretions. Steroids 75, 726-733.
DOI
ScienceOn
|
18 |
Butovich, I. A. (2013) Tear film lipids. Exp. Eye Res. 117, 4-27.
DOI
ScienceOn
|
19 |
Caliskan, M., Chong, J. X., Uricchio, L., Anderson, R., Chen, P., Sougnez, C., Garimella, K., Gabriel, S. B., dePristo, M. A., Shakir, K., Matern, D., Das, S., Waggoner, D., Nicolae, D. L. and Ober, C. (2011) Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum. Mol. Genet. 20, 1285-1289.
DOI
ScienceOn
|
20 |
Abe, K., Ohno, Y., Sassa, T., Taguchi, R., Caliskan, M., Ober, C. and Kihara, A. (2013) Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile. J. Biol. Chem. 288, 36741-36749.
DOI
ScienceOn
|
21 |
Agbaga, M. P., Mandal, M. N. and Anderson, R. E. (2010) Retinal very long-chain PUFAs: new insights from studies on ELOVL4 protein. J. Lipid Res. 51, 1624-1642.
DOI
ScienceOn
|
22 |
Akiyama, M. (2014) The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation. Biochim. Biophys. Acta 1841, 435-440.
DOI
ScienceOn
|
23 |
Watkins, P. A., McGuinness, M. C., Raymond, G. V., Hicks, B. A., Sisk, J. M., Moser, A. B. and Moser, H. W. (1995) Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies. Ann. Neurol. 38, 472-477.
DOI
ScienceOn
|
24 |
van Roermund, C. W., Visser, W. F., Ijlst, L., van Cruchten, A., Boek, M., Kulik, W., Waterham, H. R. and Wanders, R. J. (2008) The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J. 22, 4201-4208.
DOI
ScienceOn
|
25 |
Vasireddy, V., Jablonski, M. M., Mandal, M. N., Raz-Prag, D., Wang, X. F., Nizol, L., Iannaccone, A., Musch, D. C., Bush, R. A., Salem, N., Jr., Sieving, P. A. and Ayyagari, R. (2006) Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. Invest. Ophthalmol. Vis. Sci. 47, 4558-4568.
DOI
ScienceOn
|
26 |
Vasireddy, V., Uchida, Y., Salem, N., Jr., Kim, S. Y., Mandal, M. N., Reddy, G. B., Bodepudi, R., Alderson, N. L., Brown, J. C., Hama, H., Dlugosz, A., Elias, P. M., Holleran, W. M. and Ayyagari, R. (2007) Loss of functional ELOVL4 depletes very long-chain fatty acids () and the unique -O-acylceramides in skin leading to neonatal death. Hum. Mol. Genet. 16, 471-482.
DOI
|
27 |
Vasireddy, V., Wong, P. and Ayyagari, R. (2010) Genetics and molecular pathology of Stargardt-like macular degeneration. Prog. Retin. Eye Res. 29, 191-207.
DOI
ScienceOn
|
28 |
Wanders, R. J. (2014) Metabolic functions of peroxisomes in health and disease. Biochimie 98, 36-44.
DOI
ScienceOn
|
29 |
Westerberg, R., Tvrdik, P., Unden, A. B., Mansson, J. E., Norlen, L., Jakobsson, A., Holleran, W. H., Elias, P. M., Asadi, A., Flodby, P., Toftgard, R., Capecchi, M. R. and Jacobsson, A. (2004) Role for ELOVL3 and fatty acid chain length in development of hair and skin function. J. Biol. Chem. 279, 5621-5629.
DOI
ScienceOn
|
30 |
Yamanaka, W. K., Clemans, G. W. and Hutchinson, M. L. (1980) Essential fatty acids deficiency in humans. Prog. Lipid Res. 19, 187-215.
DOI
ScienceOn
|
31 |
Zhang, K., Kniazeva, M., Han, M., Li, W., Yu, Z., Yang, Z., Li, Y., Metzker, M. L., Allikmets, R., Zack, D. J., Kakuk, L. E., Lagali, P. S., Wong, P. W., MacDonald, I. M., Sieving, P. A., Figueroa, D. J., Austin, C. P., Gould, R. J., Ayyagari, R. and Petrukhin, K. (2001) A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat. Genet. 27, 89-93.
|
32 |
SanGiovanni, J. P. and Chew, E. Y. (2005) The role of omega-3 long-chain polyunsaturated fatty acids in health and disease of the retina. Prog. Retin. Eye Res. 24, 87-138.
DOI
ScienceOn
|
33 |
Sastry, P. S. (1985) Lipids of nervous tissue: composition and metabolism. Prog. Lipid Res. 24, 69-176.
DOI
ScienceOn
|
34 |
Sassa, T., Ohno, Y., Suzuki, S., Nomura, T., Nishioka, C., Kashiwagi, T., Hirayama, T., Akiyama, M., Taguchi, R., Shimizu, H., Itohara, S. and Kihara, A. (2013) Impaired epidermal permeability barrier in mice lacking Elovl1, the gene responsible for very-long-chain fatty acid production. Mol. Cell. Biol. 33, 2787-2796.
DOI
ScienceOn
|
35 |
Sassa, T., Suto, S., Okayasu, Y. and Kihara, A. (2012) A shift in sphingolipid composition from C24 to C16 increases susceptibility to apoptosis in HeLa cells. Biochim. Biophys. Acta 1821, 1031-1037.
DOI
ScienceOn
|
36 |
Sassa, T., Wakashima, T., Ohno, Y. and Kihara, A. (2014) Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin with a saturated very long-chain fatty acid. J. Lipid Res., 55, 524-530.
DOI
ScienceOn
|
37 |
Silva, L. C., Ben David, O., Pewzner-Jung, Y., Laviad, E. L., Stiban, J., Bandyopadhyay, S., Merrill, A. H., Jr., Prieto, M. and Futerman, A. H. (2012) Ablation of ceramide synthase 2 strongly affects biophysical properties of membranes. J. Lipid Res. 53, 430-436.
DOI
|
38 |
Simons, K. and Ikonen, E. (1997) Functional rafts in cell membranes. Nature 387, 569-572.
DOI
ScienceOn
|
39 |
Sonnino, S., Prinetti, A., Nakayama, H., Yangida, M., Ogawa, H. and Iwabuchi, K. (2009) Role of very long fatty acid-containing glycosphingolipids in membrane organization and cell signaling: the model of lactosylceramide in neutrophils. Glycoconj. J. 26, 615-621.
DOI
|
40 |
t'Kindt, R., Jorge, L., Dumont, E., Couturon, P., David, F., Sandra, P. and Sandra, K. (2012) Profiling and characterizing skin ceramides using reversed-phase liquid chromatography-quadrupole time-offlight mass spectrometry. Anal. Chem. 84, 403-411.
DOI
|
41 |
Poulos, A., Sharp, P., Johnson, D. and Easton, C. (1988) The occurrence of polyenoic very long chain fatty acids with greater than 32 carbon atoms in molecular species of phosphatidylcholine in normal and peroxisome-deficient (Zellweger's syndrome) brain. Biochem. J. 253, 645-650.
DOI
|
42 |
Tidhar, R. and Futerman, A. H. (2013) The complexity of sphingolipid biosynthesis in the endoplasmic reticulum. Biochim. Biophys. Acta 1833, 2511-2518.
DOI
|
43 |
Uauy, R., Hoffman, D. R., Peirano, P., Birch, D. G. and Birch, E. E. (2001) Essential fatty acids in visual and brain development. Lipids 36, 885-895.
DOI
ScienceOn
|
44 |
Poll-The, B. T., Roels, F., Ogier, H., Scotto, J., Vamecq, J., Schutgens, R. B., Wanders, R. J., van Roermund, C. W., van Wijland, M. J., Schram, A. W., Tagar, J. M. and Saudubray J. M. (1988) A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am. J. Hum. Genet. 42, 422-434.
|
45 |
Proksch, E., Brandner, J. M. and Jensen, J. M. (2008) The skin: an indispensable barrier. Exp. Dermatol. 17, 1063-1072.
DOI
ScienceOn
|
46 |
Prottey, C. (1977) Investigation of functions of essential fatty acids in the skin. Br. J. Dermatol. 97, 29-38.
DOI
|
47 |
Rabionet, M., Gorgas, K. and Sandhoff, R. (2014) Ceramide synthesis in the epidermis. Biochim. Biophys. Acta 1841, 422-434.
DOI
ScienceOn
|
48 |
Rabionet, M., van der Spoel, A. C., Chuang, C. C., von Tumpling-Radosta, B., Litjens, M., Bouwmeester, D., Hellbusch, C. C., Korner, C., Wiegandt, H., Gorgas, K., Platt, F. M., Grone, H. J. and Sandhoff, R. (2008) Male germ cells require polyenoic sphingolipids with complex glycosylation for completion of meiosis: a link to ceramide synthase-3. J. Biol. Chem. 283, 13357-13369.
DOI
ScienceOn
|
49 |
Rizzo, W. B., Leshner, R. T., Odone, A., Dammann, A. L., Craft, D. A., Jensen, M. E., Jennings, S. S., Davis, S., Jaitly, R. and Sgro J. A. (1989) Dietary erucic acid therapy for X-linked adrenoleukodystrophy. Neurology 39, 1415-1422.
DOI
|
50 |
Radner, F. P., Marrakchi, S., Kirchmeier, P., Kim, G. J., Ribierre, F., Kamoun, B., Abid, L., Leipoldt, M., Turki, H., Schempp, W., Heilig, R., Lathrop, M. and Fischer, J. (2013) Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. PLoS Genet. 9, e1003536.
DOI
|
51 |
Sandhoff, R., Geyer, R., Jennemann, R., Paret, C., Kiss, E., Yamashita, T., Gorgas, K., Sijmonsma, T. P., Iwamori, M., Finaz, C., Proia, R. L., Wiegandt, H. and Grone, H. J. (2005) Novel class of glycosphingolipids involved in male fertility. J. Biol. Chem. 280, 27310-27318.
DOI
ScienceOn
|
52 |
Ohno, Y., Suto, S., Yamanaka, M., Mizutani, Y., Mitsutake, S., Igarashi, Y., Sassa, T. and Kihara, A. (2010) ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. Proc. Natl. Acad. Sci. U.S.A. 107, 18439-18444.
DOI
ScienceOn
|
53 |
Oji, V., Tadini, G., Akiyama, M., Blanchet Bardon, C., Bodemer, C., Bourrat, E., Coudiere, P., DiGiovanna, J. J., Elias, P., Fischer, J., Fleckman, P., Gina, M., Harper, J., Hashimoto, T., Hausser, I., Hennies, H. C., Hohl, D., Hovnanian, A., Ishida-Yamamoto, A., Jacyk, W. K., Leachman, S., Leigh, I., Mazereeuw-Hautier, J., Milstone, L., Morice-Picard, F., Paller, A. S., Richard, G., Schmuth, M., Shimizu, H., Sprecher, E., Van Steensel, M., Taieb, A., Toro, J. R., Vabres, P., Vahlquist, A., Williams, M. and Traupe, H. (2010) Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in soreze 2009. J. Am. Acad. Dermatol. 63, 607-641.
DOI
ScienceOn
|
54 |
Pewzner-Jung, Y., Brenner, O., Braun, S., Laviad, E. L., Ben-Dor, S., Feldmesser, E., Horn-Saban, S., Amann-Zalcenstein, D., Raanan, C., Berkutzki, T., Erez-Roman, R., Ben-David, O., Levy, M., Holzman, D., Park, H., Nyska, A., Merrill, A. H., Jr. and Futerman, A. H. (2010a) A critical role for ceramide synthase 2 in liver homeostasis: II. insights into molecular changes leading to hepatopathy. J. Biol. Chem. 285, 10911-10923.
DOI
|
55 |
Okuda, A., Naganuma, T., Ohno, Y., Abe, K., Yamagata, M., Igarashi, Y. and Kihara, A. (2010) Hetero-oligomeric interactions of an ELOVL4 mutant protein: implications in the molecular mechanism of Stargardt-3 macular dystrophy. Mol. Vis. 16, 2438-2445.
|
56 |
Paintlia, A. S., Gilg, A. G., Khan, M., Singh, A. K., Barbosa, E. and Singh, I. (2003) Correlation of very long chain fatty acid accumulation and inflammatory disease progression in childhood X-ALD: implications for potential therapies. Neurobiol. Dis. 14, 425-439.
DOI
ScienceOn
|
57 |
Pele, M., Tiret, L., Kessler, J. L., Blot, S. and Panthier, J. J. (2005) SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum. Mol. Genet. 14, 1417-1427.
DOI
ScienceOn
|
58 |
Pewzner-Jung, Y., Park, H., Laviad, E. L., Silva, L. C., Lahiri, S., Stiban, J., Erez-Roman, R., Brugger, B., Sachsenheimer, T., Wieland, F., Prieto, M., Merrill, A. H., Jr. and Futerman, A. H. (2010b) A critical role for ceramide synthase 2 in liver homeostasis: I. alterations in lipid metabolic pathways. J. Biol. Chem. 285, 10902-10910.
DOI
|
59 |
Morita, M. and Imanaka, T. (2012) Peroxisomal ABC transporters: structure, function and role in disease. Biochim. Biophys. Acta 1822, 1387-1396.
DOI
ScienceOn
|
60 |
Morrow, M. R., Singh, D., Lu, D. and Grant, C. W. (1995) Glycosphingolipid fatty acid arrangement in phospholipid bilayers: cholesterol effects. Biophys. J. 68, 179-186.
DOI
|
61 |
Obara, K., Kojima, R. and Kihara, A. (2013) Effects on vesicular transport pathways at the late endosome in cells with limited very long-chain fatty acids. J. Lipid Res. 54, 831-842.
DOI
|
62 |
Mosser, J., Douar, A. M., Sarde, C. O., Kioschis, P., Feil, R., Moser, H., Poustka, A. M., Mandel, J. L. and Aubourg, P. (1993) Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361, 726-730.
DOI
ScienceOn
|
63 |
Muhammad, E., Reish, O., Ohno, Y., Scheetz, T., DeLuca, A., Searby, C., Regev, M., Benyamini, L., Fellig, Y., Kihara, A., Sheffield, V. C. and Parvari, R. (2013) Congenital myopathy is caused by mutation of HACD1. Hum. Mol. Genet. 22, 5229-5236.
DOI
ScienceOn
|
64 |
Naganuma, T., Sato, Y., Sassa, T., Ohno, Y. and Kihara, A. (2011) Biochemical characterization of the very long-chain fatty acid elongase ELOVL7. FEBS Lett. 585, 3337-3341.
DOI
ScienceOn
|
65 |
Ofman, R., Dijkstra, I. M., van Roermund, C. W., Burger, N., Turkenburg, M., van Cruchten, A., van Engen, C. E., Wanders, R. J. and Kemp, S. (2010) The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. EMBO Mol. Med. 2, 90-97.
DOI
|
66 |
Moon, Y. A. and Horton, J. D. (2003) Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade. J. Biol. Chem. 278, 7335-7343.
DOI
ScienceOn
|
67 |
Moon, Y. A., Shah, N. A., Mohapatra, S., Warrington, J. A. and Horton, J. D. (2001) Identification of a mammalian long chain fatty acyl elongase regulated by sterol regulatory element-binding proteins. J. Biol. Chem. 276, 45358-45366.
DOI
ScienceOn
|
68 |
Ohashi, Y., Dogru, M. and Tsubota, K. (2006) Laboratory findings in tear fluid analysis. Clin. Chim. Acta 369, 17-28.
DOI
ScienceOn
|
69 |
Korb, D. R. and Blackie, C. A. (2008) Meibomian gland diagnostic expressibility: correlation with dry eye symptoms and gland location. Cornea 27, 1142-1147.
DOI
ScienceOn
|
70 |
Kemp, S., Berger, J. and Aubourg, P. (2012) X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects. Biochim. Biophys. Acta 1822, 1465-1474.
DOI
ScienceOn
|
71 |
Li, D., Gonzalez, O., Bachinski, L. L. and Roberts, R. (2000) Human protein tyrosine phosphatase-like gene: expression profile, genomic structure, and mutation analysis in families with ARVD. Gene 256, 237-243.
DOI
|
72 |
Li, W., Sandhoff, R., Kono, M., Zerfas, P., Hoffmann, V., Ding, B. C., Proia, R. L. and Deng, C. X. (2007) Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice. Int. J. Biol. Sci. 3, 120-128.
|
73 |
Lin, D. S., Connor, W. E., Wolf, D. P., Neuringer, M. and Hachey, D. L. (1993) Unique lipids of primate spermatozoa: desmosterol and docosahexaenoic acid. J. Lipid Res. 34, 491-499.
|
74 |
Masukawa, Y., Narita, H., Shimizu, E., Kondo, N., Sugai, Y., Oba, T., Homma, R., Ishikawa, J., Takagi, Y., Kitahara, T., Takema, Y. and Kita, K. (2008) Characterization of overall ceramide species in human stratum corneum. J. Lipid Res. 49, 1466-1476.
DOI
ScienceOn
|
75 |
Matsuzaka, T., Shimano, H., Yahagi, N., Kato, T., Atsumi, A., Yamamoto, T., Inoue, N., Ishikawa, M., Okada, S., Ishigaki, N., Iwasaki, H., Iwasaki, Y., Karasawa, T., Kumadaki, S., Matsui, T., Sekiya, M., Ohashi, K., Hasty, A. H., Nakagawa, Y., Takahashi, A., Suzuki, H., Yatoh, S., Sone, H., Toyoshima, H., Osuga, J. and Yamada, N. (2007) Crucial role of a long-chain fatty acid elongase, Elovl6, in obesity-induced insulin resistance. Nat. Med. 13, 1193-1202.
DOI
ScienceOn
|
76 |
Guillou, H., Zadravec, D., Martin, P. G. and Jacobsson, A. (2010) The key roles of elongases and desaturases in mammalian fatty acid metabolism: Insights from transgenic mice. Prog. Lipid Res. 49, 186-199.
DOI
ScienceOn
|
77 |
Mizutani, Y., Mitsutake, S., Tsuji, K., Kihara, A. and Igarashi, Y. (2009) Ceramide biosynthesis in keratinocyte and its role in skin function. Biochimie 91, 784-790.
DOI
ScienceOn
|
78 |
Mizutani, Y., Sun, H., Ohno, Y., Sassa, T., Wakashima, T., Obara, M., Yuyama, K., Kihara, A. and Igarashi, Y. (2013) Cooperative synthesis of ultra long-chain fatty acid and ceramide during keratinocyte differentiation. PLoS One 8, e67317.
DOI
ScienceOn
|
79 |
Moon, Y. A., Hammer, R. E. and Horton, J. D. (2009) Deletion of ELOVL5 leads to fatty liver through activation of SREBP-1c in mice. J. Lipid Res. 50, 412-423.
DOI
|
80 |
Hama, H. (2010) Fatty acid 2-Hydroxylation in mammalian sphingolipid biology. Biochim. Biophys. Acta 1801, 405-414.
DOI
ScienceOn
|
81 |
Harkewicz, R., Du, H., Tong, Z., Alkuraya, H., Bedell, M., Sun, W., Wang, X., Hsu, Y. H., Esteve-Rudd, J., Hughes, G., Su, Z., Zhang, M., Lopes, V. S., Molday, R. S., Williams, D. S., Dennis, E. A. and Zhang, K. (2012) Essential role of ELOVL4 protein in very long chain fatty acid synthesis and retinal function. J. Biol. Chem. 287, 11469-11480.
DOI
|
82 |
Ikeda, M., Kanao, Y., Yamanaka, M., Sakuraba, H., Mizutani, Y., Igarashi, Y. and Kihara, A. (2008) Characterization of four mammalian 3-hydroxyacyl-CoA dehydratases involved in very long-chain fatty acid synthesis. FEBS Lett. 582, 2435-2440.
DOI
ScienceOn
|
83 |
Jennemann, R., Rabionet, M., Gorgas, K., Epstein, S., Dalpke, A., Rothermel, U., Bayerle, A., van der Hoeven, F., Imgrund, S., Kirsch, J., Nickel, W., Willecke, K., Riezman, H., Grone, H. J. and Sandhoff, R. (2012) Loss of ceramide synthase 3 causes lethal skin barrier disruption. Hum. Mol. Genet. 21, 586-608.
DOI
ScienceOn
|
84 |
Imgrund, S., Hartmann, D., Farwanah, H., Eckhardt, M., Sandhoff, R., Degen, J., Gieselmann, V., Sandhoff, K. and Willecke, K. (2009) Adult ceramide synthase 2 (CERS2)-deficient mice exhibit myelin sheath defects, cerebellar degeneration, and hepatocarcinomas. J. Biol. Chem. 284, 33549-33560.
DOI
ScienceOn
|
85 |
Iwabuchi, K., Prinetti, A., Sonnino, S., Mauri, L., Kobayashi, T., Ishii, K., Kaga, N., Murayama, K., Kurihara, H., Nakayama, H., Yoshizaki, F., Takamori, K., Ogawa, H. and Nagaoka, I. (2008) Involvement of very long fatty acid-containing lactosylceramide in lactosylceramide-mediated superoxide generation and migration in neutrophils. Glycoconj. J. 25, 357-374.
DOI
|
86 |
Jakobsson, A., Westerberg, R. and Jacobsson, A. (2006) Fatty acid elongases in mammals: their regulation and roles in metabolism. Prog. Lipid Res. 45, 237-249.
DOI
ScienceOn
|
87 |
Karan, G., Yang, Z., Howes, K., Zhao, Y., Chen, Y., Cameron, D. J., Lin, Y., Pearson, E. and Zhang, K. (2005) Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants. Mol. Vis. 11, 657-664.
|
88 |
Kasahara, K. and Sanai, Y. (2000) Functional roles of glycosphingolipids in signal transduction via lipid rafts. Glycoconj. J. 17, 153-162.
DOI
ScienceOn
|
89 |
Robinson, B. S., Johnson, D. W. and Poulos, A. (1990) Unique molecular species of phosphatidylcholine containing very-long-chain () polyenoic fatty acids in rat brain. Biochem. J. 265, 763-767.
DOI
|
90 |
Zadravec, D., Tvrdik, P., Guillou, H., Haslam, R., Kobayashi, T., Napier, J. A., Capecchi, M. R. and Jacobsson, A. (2011) ELOVL2 controls the level of n-6 28:5 and 30:5 fatty acids in testis, a prerequisite for male fertility and sperm maturation in mice. J. Lipid Res. 52, 245-255.
DOI
|
91 |
Mukherjee, P. K., Marcheselli, V. L., de Rivero Vaccari, J. C., Gordon, W. C., Jackson, F. E. and Bazan, N. G. (2007) Photoreceptor outer segment phagocytosis attenuates oxidative stress-induced apoptosis with concomitant neuroprotectin D1 synthesis. Proc. Natl. Acad. Sci. U.S.A. 104, 13158-13163.
DOI
ScienceOn
|
92 |
Mizutani, Y., Kihara, A., Chiba, H., Tojo, H. and Igarashi, Y. (2008) 2-Hydroxy-ceramide synthesis by ceramide synthase family: enzymatic basis for the preference of FA chain length. J. Lipid Res. 49, 2356-2364.
DOI
ScienceOn
|
93 |
Akiyama, M., Sugiyama-Nakagiri, Y., Sakai, K., McMillan, J. R., Goto, M., Arita, K., Tsuji-Abe, Y., Tabata, N., Matsuoka, K., Sasaki, R., Sawamura, D. and Shimizu, H. (2005) Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J. Clin. Invest. 115, 1777-1784.
DOI
ScienceOn
|
94 |
Donoso, L. A., Edwards, A. O., Frost, A., Vrabec, T., Stone, E. M., Hageman, G. S. and Perski, T. (2001) Autosomal dominant Stargardtlike macular dystrophy. Surv. Ophthalmol. 46, 149-163.
DOI
ScienceOn
|
95 |
Ginkel, C., Hartmann, D., vom Dorp, K., Zlomuzica, A., Farwanah, H., Eckhardt, M., Sandhoff, R., Degen, J., Rabionet, M., Dere, E., Dormann, P., Sandhoff, K. and Willecke, K. (2012) Ablation of neuronal ceramide synthase 1 in mice decreases ganglioside levels and expression of myelin-associated glycoprotein in oligodendrocytes. J. Biol. Chem. 287, 41888-41902.
DOI
|