-
1
-
-
0000527037
-
Phytol: Its metabolic products and their distribution. A review
-
Hansen, R. P. (1980) Phytol: its metabolic products and their distribution. A review. N. Z. J. Sci. 23, 259-275.
-
(1980)
N. Z. J. Sci.
, vol.23
, pp. 259-275
-
-
Hansen, R.P.1
-
2
-
-
0001435689
-
Über das Vorkommen der 3,7,11,15-Tetramethylhexadecansaure (Phytansaure) in den Cholesterinestern und anderen Lipidfraktionen der Organe bei einem Krankheitsfall unbekannter Genese (Verdacht auf Heredopathia Atactica Polyneuritiformis [Refsum-Syndrome])
-
Klenk, E. and Kahlke, W. (1963) Über das Vorkommen der 3,7,11,15-Tetramethylhexadecansaure (Phytansaure) in den Cholesterinestern und anderen Lipidfraktionen der Organe bei einem Krankheitsfall unbekannter Genese (Verdacht auf Heredopathia Atactica Polyneuritiformis [Refsum-Syndrome]). Hoppe Seylers, Z. Physiol. Chem. 333, 133-139.
-
(1963)
Hoppe Seylers, Z. Physiol. Chem.
, vol.333
, pp. 133-139
-
-
Klenk, E.1
Kahlke, W.2
-
3
-
-
0023897619
-
Biochemical abnormalities in rhizomelic chondrodysplasia punctata
-
Hoefler, G., Hoefler, S., Watkins, P. A., Chen, W. W., Moser, A., Baldwin, V., McGillivary, B., Charrow, J., Friedman, J. M., Rutledge, L., Hashimoto, F. and Moser, H. W. (1988) Biochemical abnormalities in rhizomelic chondrodysplasia punctata. J. Pediatr. 112, 726-733.
-
(1988)
J. Pediatr.
, vol.112
, pp. 726-733
-
-
Hoefler, G.1
Hoefler, S.2
Watkins, P.A.3
Chen, W.W.4
Moser, A.5
Baldwin, V.6
McGillivary, B.7
Charrow, J.8
Friedman, J.M.9
Rutledge, L.10
Hashimoto, F.11
Moser, H.W.12
-
4
-
-
0022648310
-
Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata
-
Wanders, R. J. A., Saelman, D., Heymans, H. S., Schutgens, R. B., Westerveld, A., Poll-The, B. T., Saudubray, J. M., Van den, B. H., Strijland, A. and Schram, A. W. (1986) Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. N. Engl. J. Med. 314, 787-788.
-
(1986)
N. Engl. J. Med.
, vol.314
, pp. 787-788
-
-
Wanders, R.J.A.1
Saelman, D.2
Heymans, H.S.3
Schutgens, R.B.4
Westerveld, A.5
Poll-The, B.T.6
Saudubray, J.M.7
Van Den, B.H.8
Strijland, A.9
Schram, A.W.10
-
5
-
-
11844255781
-
The Refsum disease marker phytanic acid, a branched chain fatty acid, affects Ca(2+) homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes
-
Kahlert, S., Schönfeld, P. and Reiser, G. (2005) The Refsum disease marker phytanic acid, a branched chain fatty acid, affects Ca(2+) homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes. Neurobiol. Dis. 18, 110-118.
-
(2005)
Neurobiol. Dis.
, vol.18
, pp. 110-118
-
-
Kahlert, S.1
Schönfeld, P.2
Reiser, G.3
-
6
-
-
6344243204
-
In brain mitochondria the branched-chain fatty acid phytanic acid impairs energy transduction and sensitizes for permeability transition
-
Schönfeld, P., Kahlert, S. and Reiser, G. (2004) In brain mitochondria the branched-chain fatty acid phytanic acid impairs energy transduction and sensitizes for permeability transition. Biochem. J. 383, 121-128.
-
(2004)
Biochem. J.
, vol.383
, pp. 121-128
-
-
Schönfeld, P.1
Kahlert, S.2
Reiser, G.3
-
7
-
-
10044248689
-
Phytanic acid accumulation is associated with conduction delay and sudden cardiac death in sterol carrier protein-2/sterol carrier protein-x deficient mice
-
Monnig, G., Wiekowski, J., Kirchhof, P., Stypmann, J., Plenz, G., Fabritz, L., Bruns, H. J., Eckardt, L., Assmann, G., Haverkamp, W., Breithardt, G. and Seedorf, U. (2004) Phytanic acid accumulation is associated with conduction delay and sudden cardiac death in sterol carrier protein-2/sterol carrier protein-x deficient mice. J. Cardiovasc. Electrophysiol. 15, 1310-1316.
-
(2004)
J. Cardiovasc. Electrophysiol.
, vol.15
, pp. 1310-1316
-
-
Monnig, G.1
Wiekowski, J.2
Kirchhof, P.3
Stypmann, J.4
Plenz, G.5
Fabritz, L.6
Bruns, H.J.7
Eckardt, L.8
Assmann, G.9
Haverkamp, W.10
Breithardt, G.11
Seedorf, U.12
-
8
-
-
0034956657
-
Further insights into peroxisomal lipid breakdown via alpha- And beta-oxidation
-
Van Veldhoven, P. P., Casteels, M., Mannaerts, G. P. and Baes, M. (2001) Further insights into peroxisomal lipid breakdown via alpha- and beta-oxidation. Biochem. Soc. Trans. 29, 292-298.
-
(2001)
Biochem. Soc. Trans.
, vol.29
, pp. 292-298
-
-
Van Veldhoven, P.P.1
Casteels, M.2
Mannaerts, G.P.3
Baes, M.4
-
9
-
-
0034956080
-
Peroxisomal fatty acid alpha- And beta-oxidation in humans: Enzymology, peroxisomal metabolite transporters and peroxisomal diseases
-
Wanders, R. J., Vreken, P., Ferdinandusse, S., Jansen, G. A., Waterham, H. R., van Roermund, C. W. and Van Grunsven, E. G. (2001) Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases. Biochem. Soc. Trans. 29, 250-267.
-
(2001)
Biochem. Soc. Trans.
, vol.29
, pp. 250-267
-
-
Wanders, R.J.1
Vreken, P.2
Ferdinandusse, S.3
Jansen, G.A.4
Waterham, H.R.5
Van Roermund, C.W.6
Van Grunsven, E.G.7
-
10
-
-
0020574070
-
Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)
-
Heymans, H. S., Schutgens, R. B., Tan, R., van den Bosch, H. and Borst, P. (1983) Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome). Nature 306, 69-70.
-
(1983)
Nature
, vol.306
, pp. 69-70
-
-
Heymans, H.S.1
Schutgens, R.B.2
Tan, R.3
Van Den Bosch, H.4
Borst, P.5
-
11
-
-
0027246197
-
Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase
-
Danpure, C. J. (1993) Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. Biochimie 75, 309-315.
-
(1993)
Biochimie
, vol.75
, pp. 309-315
-
-
Danpure, C.J.1
-
12
-
-
0025120211
-
Regulation of the mevalonate pathway
-
Goldstein, J. L. and Brown, M. S. (1990) Regulation of the mevalonate pathway. Nature 343, 425-430.
-
(1990)
Nature
, vol.343
, pp. 425-430
-
-
Goldstein, J.L.1
Brown, M.S.2
-
13
-
-
0013946641
-
Metabolism of phytol-U-14C and phytanic acid-U-14C in the rat
-
Mize, C. E., Avigan, J., Baxter, J. H., Fales, H. M. and Steinberg, D. (1966) Metabolism of phytol-U-14C and phytanic acid-U-14C in the rat. J. Lipid Res. 7, 692-697.
-
(1966)
J. Lipid Res.
, vol.7
, pp. 692-697
-
-
Mize, C.E.1
Avigan, J.2
Baxter, J.H.3
Fales, H.M.4
Steinberg, D.5
-
14
-
-
0013844643
-
Conversion of U-C14-phytol to phytanic acid and its oxidation in heredopathia atactica polyneuritiformis
-
Steinberg, D., Avigan, J., Mize, C., Eldjarn, L., Try, K. and Refsum, S. (1965) Conversion of U-C14-phytol to phytanic acid and its oxidation in heredopathia atactica polyneuritiformis. Biochem. Biophys. Res. Commun. 19, 783-789.
-
(1965)
Biochem. Biophys. Res. Commun.
, vol.19
, pp. 783-789
-
-
Steinberg, D.1
Avigan, J.2
Mize, C.3
Eldjarn, L.4
Try, K.5
Refsum, S.6
-
15
-
-
0014330683
-
Absorption of chlorophyll phytol in normal man and in patients with Refsum's disease
-
Baxter, J. H. (1968) Absorption of chlorophyll phytol in normal man and in patients with Refsum's disease. J. Lipid. Res. 9, 636-641.
-
(1968)
J. Lipid. Res.
, vol.9
, pp. 636-641
-
-
Baxter, J.H.1
-
16
-
-
0014192543
-
Absorption and metabolism of uniformly 14C-labeled phytol and phytanic acid by the intestine of the rat studied with thoracic duct cannulation
-
Baxter, J. H., Steinberg, D., Mize, C. E. and Avigan, J. (1967) Absorption and metabolism of uniformly 14C-labeled phytol and phytanic acid by the intestine of the rat studied with thoracic duct cannulation. Biochim. Biophys. Acta 137, 277-290.
-
(1967)
Biochim. Biophys. Acta
, vol.137
, pp. 277-290
-
-
Baxter, J.H.1
Steinberg, D.2
Mize, C.E.3
Avigan, J.4
-
17
-
-
0027203836
-
Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and the application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease
-
Brown, P. J., Mei, G., Gibberd, F. B., Burston, D., Mayne, P. D., McClinchy, J. E. and Sidey, M. (1993) Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and the application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease. J. Hum. Nutr. Diet. 6, 295-305.
-
(1993)
J. Hum. Nutr. Diet.
, vol.6
, pp. 295-305
-
-
Brown, P.J.1
Mei, G.2
Gibberd, F.B.3
Burston, D.4
Mayne, P.D.5
McClinchy, J.E.6
Sidey, M.7
-
18
-
-
84907106115
-
Heredopathia atactica polyneuritiformis (Refsum's disease): 1. Clinical features and dietary management
-
Masters-Thomas, A., Bailes, J., Billimoria, J. D., Clemens, M. E., Gibberd, F. B. and Page, N. G. (1980) Heredopathia atactica polyneuritiformis (Refsum's disease): 1. Clinical features and dietary management. J. Hum. Nutr. 34, 245-250.
-
(1980)
J. Hum. Nutr.
, vol.34
, pp. 245-250
-
-
Masters-Thomas, A.1
Bailes, J.2
Billimoria, J.D.3
Clemens, M.E.4
Gibberd, F.B.5
Page, N.G.6
-
19
-
-
84907110204
-
Heredopathia atactica polyneuritiformis (Refsum's disease): 2. Estimation of phytanic acid in foods
-
Masters-Thomas, A., Bailes, J., Billimoria, J. D., Clemens, M. E., Gibberd, F. B. and Page, N. G. (1980) Heredopathia atactica polyneuritiformis (Refsum's disease): 2. Estimation of phytanic acid in foods. J. Hum. Nutr. 34, 251-254.
-
(1980)
J. Hum. Nutr.
, vol.34
, pp. 251-254
-
-
Masters-Thomas, A.1
Bailes, J.2
Billimoria, J.D.3
Clemens, M.E.4
Gibberd, F.B.5
Page, N.G.6
-
20
-
-
0014025086
-
Alpha-decarboxylation, an important pathway for degradation of phytanic acid in animals
-
Avigan, J., Steinberg, D., Gutman, A., Mize, C. E. and Milne, G. W. (1966) Alpha-decarboxylation, an important pathway for degradation of phytanic acid in animals. Biochem. Biophys. Res. Commun. 24, 838-844.
-
(1966)
Biochem. Biophys. Res. Commun.
, vol.24
, pp. 838-844
-
-
Avigan, J.1
Steinberg, D.2
Gutman, A.3
Mize, C.E.4
Milne, G.W.5
-
21
-
-
0014005659
-
The existence of an alternative pathway for the degradation of branch-chained fatty acids, and its failure in heredopathia atactica polyneuritiformis (Refsum's disease)
-
Eldjarn, L., Try, K. and Stokke, O. (1966) The existence of an alternative pathway for the degradation of branch-chained fatty acids, and its failure in heredopathia atactica polyneuritiformis (Refsum's disease). Biochim. Biophys. Acta 116, 395-397.
-
(1966)
Biochim. Biophys. Acta
, vol.116
, pp. 395-397
-
-
Eldjarn, L.1
Try, K.2
Stokke, O.3
-
22
-
-
0014221364
-
Refsum's disease: Nature of the enzyme defect
-
Steinberg, D., Herndon, J. H. Jr, Uhlendorf, B. W., Mize, C. E., Avigan, J. and Milne, G. W. (1967) Refsum's disease: nature of the enzyme defect. Science 156, 1740-1742.
-
(1967)
Science
, vol.156
, pp. 1740-1742
-
-
Steinberg, D.1
Herndon Jr., J.H.2
Uhlendorf, B.W.3
Mize, C.E.4
Avigan, J.5
Milne, G.W.6
-
23
-
-
0026731909
-
Phytanic acid alpha-oxidation: Accumulation of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders
-
ten Brink, H. J., Schor, D. S., Kok, R. M., Poll-The, B. T., Wanders, R. J. and Jakobs, C. (1992) Phytanic acid alpha-oxidation: accumulation of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders. J. Lipid Res. 33, 1449-1457.
-
(1992)
J. Lipid Res.
, vol.33
, pp. 1449-1457
-
-
Ten Brink, H.J.1
Schor, D.S.2
Kok, R.M.3
Poll-The, B.T.4
Wanders, R.J.5
Jakobs, C.6
-
24
-
-
0014670193
-
A major pathway for the mammalian oxidative degradation of phytanic acid
-
Mize, C. E., Avigan, J., Steinberg, D., Pittman, R. C., Fales, H. M. and Milne, G. W. (1969) A major pathway for the mammalian oxidative degradation of phytanic acid. Biochim. Biophys. Acta 176, 720-739.
-
(1969)
Biochim. Biophys. Acta
, vol.176
, pp. 720-739
-
-
Mize, C.E.1
Avigan, J.2
Steinberg, D.3
Pittman, R.C.4
Fales, H.M.5
Milne, G.W.6
-
25
-
-
0029017096
-
Phytanic acid oxidation: Topographical localization of phytanoyl-CoA ligase and transport of phytanic acid into human peroxisomes
-
Pahan, K. and Singh, I. (1995) Phytanic acid oxidation: topographical localization of phytanoyl-CoA ligase and transport of phytanic acid into human peroxisomes. J. Lipid Res. 36, 986-997.
-
(1995)
J. Lipid Res.
, vol.36
, pp. 986-997
-
-
Pahan, K.1
Singh, I.2
-
26
-
-
0030482318
-
Phytanic acid activation in rat liver peroxisomes is catalyzed by long- Chain acyl-CoA synthetase
-
Watkins, P. A., Howard, A. E., Gould, S. J., Avigan, J. and Mihalik, S. J. (1996) Phytanic acid activation in rat liver peroxisomes is catalyzed by long- chain acyl-CoA synthetase. J. Lipid Res. 37, 2288-2295.
-
(1996)
J. Lipid Res.
, vol.37
, pp. 2288-2295
-
-
Watkins, P.A.1
Howard, A.E.2
Gould, S.J.3
Avigan, J.4
Mihalik, S.J.5
-
27
-
-
0028978668
-
Phytanic acid alpha-oxidation in rat liver peroxisomes. Production of alpha-hydroxyphytanoyl-CoA and formate is enhanced by dioxygenase cofactors
-
Mihalik, S. J., Rainville, A. M. and Watkins, P. A. (1995) Phytanic acid alpha-oxidation in rat liver peroxisomes. Production of alpha-hydroxyphytanoyl- CoA and formate is enhanced by dioxygenase cofactors. Eur. J. Biochem. 232, 545-551.
-
(1995)
Eur. J. Biochem.
, vol.232
, pp. 545-551
-
-
Mihalik, S.J.1
Rainville, A.M.2
Watkins, P.A.3
-
28
-
-
0029662167
-
alpha-Oxidation of 3-methyl-substituted fatty acids in rat liver. Production of formic acid instead of CO2, cofactor requirements, subcellular localization and formation of a 2-hydroxy-3-methylacyl-CoA intermediate
-
Croes, K., Casteels, M., De Hoffmann, E., Mannaerts, G. P. and Van Veldhoven, P. P. (1996) alpha-Oxidation of 3-methyl-substituted fatty acids in rat liver. Production of formic acid instead of CO2, cofactor requirements, subcellular localization and formation of a 2-hydroxy-3-methylacyl-CoA intermediate. Eur. J. Biochem. 240, 674-683.
-
(1996)
Eur. J. Biochem.
, vol.240
, pp. 674-683
-
-
Croes, K.1
Casteels, M.2
De Hoffmann, E.3
Mannaerts, G.P.4
Van Veldhoven, P.P.5
-
29
-
-
0030569533
-
Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: Direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans
-
Jansen, G. A., Mihalik, S. J., Watkins, P. A., Moser, H. W., Jakobs, C., Denis, S. and Wanders, R. J. (1996) Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans. Biochem. Biophys. Res. Commun. 229, 205-210.
-
(1996)
Biochem. Biophys. Res. Commun.
, vol.229
, pp. 205-210
-
-
Jansen, G.A.1
Mihalik, S.J.2
Watkins, P.A.3
Moser, H.W.4
Jakobs, C.5
Denis, S.6
Wanders, R.J.7
-
30
-
-
0030745425
-
Phytanoyl-coenzyme A hydroxylase deficiency - The enzyme defect in Refsum's disease
-
Jansen, G. A., Wanders, R. J., Watkins, P. A. and Mihalik, S. J. (1997) Phytanoyl-coenzyme A hydroxylase deficiency - the enzyme defect in Refsum's disease. N. Engl. J. Med. 337, 133-134.
-
(1997)
N. Engl. J. Med.
, vol.337
, pp. 133-134
-
-
Jansen, G.A.1
Wanders, R.J.2
Watkins, P.A.3
Mihalik, S.J.4
-
31
-
-
0027311182
-
Formic acid is a product of the alpha-oxidation of fatty acids by human skin fibroblasts: Deficiency of formic acid production in peroxisome-deficient fibroblasts
-
Poulos, A., Sharp, P., Singh, H., Johnson, D. W., Carey, W. F. and Easton, C. (1993) Formic acid is a product of the alpha-oxidation of fatty acids by human skin fibroblasts: deficiency of formic acid production in peroxisome-deficient fibroblasts. Biochem. J. 292 (Pt 2), 457-461.
-
(1993)
Biochem. J.
, vol.292
, Issue.2 PART
, pp. 457-461
-
-
Poulos, A.1
Sharp, P.2
Singh, H.3
Johnson, D.W.4
Carey, W.F.5
Easton, C.6
-
32
-
-
0031589134
-
Production of formyl-CoA during peroxisomal alpha-oxidation of 3-methyl-branched fatty acids
-
Croes, K., Van Veldhoven, P. P., Mannaerts, G. P. and Casteels, M. (1997) Production of formyl-CoA during peroxisomal alpha-oxidation of 3-methyl-branched fatty acids. FEBS Lett. 407, 197-200.
-
(1997)
FEBS Lett.
, vol.407
, pp. 197-200
-
-
Croes, K.1
Van Veldhoven, P.P.2
Mannaerts, G.P.3
Casteels, M.4
-
33
-
-
0032878891
-
Phytanic acid alpha-oxidation: Identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes
-
Jansen, G. A., Verhoeven, N. M., Denis, S., Romeijn, G., Jakobs, C., ten Brink, H. J. and Wanders, R. J. (1999) Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes. Biochim. Biophys. Acta 1440, 176-182.
-
(1999)
Biochim. Biophys. Acta
, vol.1440
, pp. 176-182
-
-
Jansen, G.A.1
Verhoeven, N.M.2
Denis, S.3
Romeijn, G.4
Jakobs, C.5
Ten Brink, H.J.6
Wanders, R.J.7
-
34
-
-
0033621136
-
Purification, molecular cloning, and expression of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal thiamine pyrophosphate-dependent enzyme that catalyzes the carbon-carbon bond cleavage during alpha-oxidation of 3-methyl-branched fatty acids
-
USA
-
Foulon, V., Antonenkov, V. D., Croes, K., Waelkens, E., Mannaerts, G. P., Van Veldhoven, P. P. and Casteels, M. (1999) Purification, molecular cloning, and expression of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal thiamine pyrophosphate-dependent enzyme that catalyzes the carbon-carbon bond cleavage during alpha-oxidation of 3-methyl-branched fatty acids. Proc. Natl. Acad. Sci. USA 96, 10039-10044.
-
(1999)
Proc. Natl. Acad. Sci.
, vol.96
, pp. 10039-10044
-
-
Foulon, V.1
Antonenkov, V.D.2
Croes, K.3
Waelkens, E.4
Mannaerts, G.P.5
Van Veldhoven, P.P.6
Casteels, M.7
-
35
-
-
15444367219
-
Breakdown of 2-hydroxylated straight chain fatty acids via peroxisomal 2-hydroxyphytanoyl-CoA lyase: A revised pathway for the alpha-oxidation of straight chain fatty acids
-
Foulon, V., Sniekers, M., Huysmans, E., Asselberghs, S., Mahieu, V., Mannaerts, G. P., Van Veldhoven, P. P. and Casteels, M. (2005) Breakdown of 2-hydroxylated straight chain fatty acids via peroxisomal 2-hydroxyphytanoyl-CoA lyase: a revised pathway for the alpha-oxidation of straight chain fatty acids. J. Biol. Chem. 280, 9802-9812.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 9802-9812
-
-
Foulon, V.1
Sniekers, M.2
Huysmans, E.3
Asselberghs, S.4
Mahieu, V.5
Mannaerts, G.P.6
Van Veldhoven, P.P.7
Casteels, M.8
-
36
-
-
0038409903
-
Alpha-oxidation of 3-methyl-substituted fatty acids and its thiamine dependence
-
Casteels, M., Foulon, V., Mannaerts, G. P. and Van Veldhoven, P. P. (2003) Alpha-oxidation of 3-methyl-substituted fatty acids and its thiamine dependence. Eur. J. Biochem. 270, 1619-1627.
-
(2003)
Eur. J. Biochem.
, vol.270
, pp. 1619-1627
-
-
Casteels, M.1
Foulon, V.2
Mannaerts, G.P.3
Van Veldhoven, P.P.4
-
37
-
-
0031559604
-
Resolution of the phytanic acid alpha-oxidation pathway: Identification of pristanal as product of the decarboxylation of 2-hydroxyphytanoyl-CoA
-
Verhoeven, N. M., Schor, D. S., ten Brink, H. J., Wanders, R. J. and Jakobs, C. (1997) Resolution of the phytanic acid alpha-oxidation pathway: identification of pristanal as product of the decarboxylation of 2-hydroxyphytanoyl-CoA. Biochem. Biophys. Res. Commun. 237, 33-36.
-
(1997)
Biochem. Biophys. Res. Commun.
, vol.237
, pp. 33-36
-
-
Verhoeven, N.M.1
Schor, D.S.2
Ten Brink, H.J.3
Wanders, R.J.4
Jakobs, C.5
-
38
-
-
0031752194
-
The metabolism of phytanic acid and pristanic acid in man: A review
-
Verhoeven, N. M., Wanders, R. J., Poll-The, B. T., Saudubray, J. M. and Jakobs, C. (1998) The metabolism of phytanic acid and pristanic acid in man: a review. J. Inherit. Metab. Dis. 21, 697-728.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, pp. 697-728
-
-
Verhoeven, N.M.1
Wanders, R.J.2
Poll-The, B.T.3
Saudubray, J.M.4
Jakobs, C.5
-
39
-
-
0030725292
-
Phytanic acid alpha-oxidation: Decarboxylation of 2-hydroxyphytanoyl-CoA to pristanic acid in human liver
-
Verhoeven, N. M., Wanders, R. J., Schor, D. S., Jansen, G. A. and Jakobs, C. (1997) Phytanic acid alpha-oxidation: decarboxylation of 2-hydroxyphytanoyl-CoA to pristanic acid in human liver. J. Lipid. Res. 38, 2062-2070.
-
(1997)
J. Lipid. Res.
, vol.38
, pp. 2062-2070
-
-
Verhoeven, N.M.1
Wanders, R.J.2
Schor, D.S.3
Jansen, G.A.4
Jakobs, C.5
-
40
-
-
0032537502
-
Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid
-
Verhoeven, N. M., Jakobs, C., Carney, G., Somers, M. P., Wanders, R. J. and Rizzo, W. B. (1998) Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid. FEBS Lett. 429, 225-228.
-
(1998)
FEBS Lett.
, vol.429
, pp. 225-228
-
-
Verhoeven, N.M.1
Jakobs, C.2
Carney, G.3
Somers, M.P.4
Wanders, R.J.5
Rizzo, W.B.6
-
41
-
-
0034806097
-
Identification of pristanal dehydrogenase activity in peroxisomes: Conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes
-
Jansen, G. A., van den Brink, D. M., Ofman, R., Draghici, O., Dacremont, G. and Wanders, R. J. (2001) Identification of pristanal dehydrogenase activity in peroxisomes: conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes. Biochem. Biophys. Res. Commun. 283, 674-679.
-
(2001)
Biochem. Biophys. Res. Commun.
, vol.283
, pp. 674-679
-
-
Jansen, G.A.1
Van Den Brink, D.M.2
Ofman, R.3
Draghici, O.4
Dacremont, G.5
Wanders, R.J.6
-
42
-
-
0032006030
-
Human aldehyde dehydrogenase gene family
-
Yoshida, A., Rzhetsky, A., Hsu, L. C. and Chang, C. (1998) Human aldehyde dehydrogenase gene family. Eur. J. Biochem. 251, 549-557.
-
(1998)
Eur. J. Biochem.
, vol.251
, pp. 549-557
-
-
Yoshida, A.1
Rzhetsky, A.2
Hsu, L.C.3
Chang, C.4
-
43
-
-
0027818538
-
Microsomal aldehyde dehydrogenase or its cross-reacting protein exists in outer mitocnondrial membranes and peroxisomal membranes in rat liver
-
Miyauchi, K., Yamamoto, A., Masaki, R., Fujiki, Y. and Tashiro, Y. (1993) Microsomal aldehyde dehydrogenase or its cross-reacting protein exists in outer mitocnondrial membranes and peroxisomal membranes in rat liver. Cell Struct. Funct. 18, 427-436.
-
(1993)
Cell Struct. Funct.
, vol.18
, pp. 427-436
-
-
Miyauchi, K.1
Yamamoto, A.2
Masaki, R.3
Fujiki, Y.4
Tashiro, Y.5
-
44
-
-
0028832111
-
Alcohol:NAD+ oxidoreductase is present in rat liver peroxisomes
-
Sakuraba, H. and Noguchi, T. (1995) Alcohol:NAD+ oxidoreductase is present in rat liver peroxisomes. J. Biol. Chem. 270, 37-40.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 37-40
-
-
Sakuraba, H.1
Noguchi, T.2
-
45
-
-
0028068939
-
Microsomal aldehyde dehydrogenase is localized to the endoplasmic reticulum via its carboxyl-terminal 35 amino acids
-
Masaki, R., Yamamoto, A. and Tashiro, Y. (1994) Microsomal aldehyde dehydrogenase is localized to the endoplasmic reticulum via its carboxyl-terminal 35 amino acids. J. Cell Biol. 126, 1407-1420.
-
(1994)
J. Cell Biol.
, vol.126
, pp. 1407-1420
-
-
Masaki, R.1
Yamamoto, A.2
Tashiro, Y.3
-
46
-
-
0029975529
-
Membrane topology and retention of microsomal aldehyde dehydrogenase in the endoplasmic reticulum
-
Masaki, R., Yamamoto, A. and Tashiro, Y. (1996) Membrane topology and retention of microsomal aldehyde dehydrogenase in the endoplasmic reticulum. J. Biol. Chem. 271, 16939-16944.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 16939-16944
-
-
Masaki, R.1
Yamamoto, A.2
Tashiro, Y.3
-
47
-
-
0038107461
-
Involvement of the endoplasmic reticulum in peroxisome formation
-
Geuze, H. J., Murk, J. L., Stroobants, A. K., Griffith, J. M., Kleijmeer, M. J., Koster, A. J., Verkleij, A. J., Distel, B. and Tabak, H. F. (2003) Involvement of the endoplasmic reticulum in peroxisome formation. Mol. Biol. Cell 14, 2900-2907.
-
(2003)
Mol. Biol. Cell
, vol.14
, pp. 2900-2907
-
-
Geuze, H.J.1
Murk, J.L.2
Stroobants, A.K.3
Griffith, J.M.4
Kleijmeer, M.J.5
Koster, A.J.6
Verkleij, A.J.7
Distel, B.8
Tabak, H.F.9
-
48
-
-
22144465170
-
Contribution of the endoplasmic reticulum to peroxisome formation
-
Hoepfner, D., Schildknegt, D., Braakman, I., Philippsen, P. and Tabak, H. F. (2005) Contribution of the endoplasmic reticulum to peroxisome formation. Cell 122, 85-95.
-
(2005)
Cell
, vol.122
, pp. 85-95
-
-
Hoepfner, D.1
Schildknegt, D.2
Braakman, I.3
Philippsen, P.4
Tabak, H.F.5
-
49
-
-
0031568898
-
Human fatty aldehyde deny drogenase gene (ALDH10): Organization and tissue-dependent expression
-
Chang, C. and Yoshida, A. (1997) Human fatty aldehyde deny drogenase gene (ALDH10): organization and tissue-dependent expression. Genomics 40, 80-85.
-
(1997)
Genomics
, vol.40
, pp. 80-85
-
-
Chang, C.1
Yoshida, A.2
-
50
-
-
0033739586
-
Genomic organization, expression, and alternate splicing of the mouse fatty aldehyde dehydrogenase gene
-
Lin, Z., Carney, G. and Rizzo, W. B. (2000) Genomic organization, expression, and alternate splicing of the mouse fatty aldehyde dehydrogenase gene. Mol. Genet. Metab. 71, 496-505.
-
(2000)
Mol. Genet. Metab.
, vol.71
, pp. 496-505
-
-
Lin, Z.1
Carney, G.2
Rizzo, W.B.3
-
51
-
-
0031568268
-
Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH)
-
Rogers, G. R., Markova, N. G., De Laurenzi, V., Rizzo, W. B. and Compton, J. G. (1997) Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). Genomics 39, 127-135.
-
(1997)
Genomics
, vol.39
, pp. 127-135
-
-
Rogers, G.R.1
Markova, N.G.2
De Laurenzi, V.3
Rizzo, W.B.4
Compton, J.G.5
-
52
-
-
0021869358
-
Intraparticulate localization and some properties of a clofibrate- Induced peroxisomal aldehyde dehydrogenase from rat liver
-
Antonenkov, V. D., Pirozhkov, S. V. and Panchenko, L. F. (1985) Intraparticulate localization and some properties of a clofibrate- induced peroxisomal aldehyde dehydrogenase from rat liver. Eur. J. Biochem. 149, 159-167.
-
(1985)
Eur. J. Biochem.
, vol.149
, pp. 159-167
-
-
Antonenkov, V.D.1
Pirozhkov, S.V.2
Panchenko, L.F.3
-
53
-
-
0029920350
-
Mouse microsomal Class 3 aldehyde dehydrogenase: AHD3 cDNA sequence, inducibility by dioxin and clofibrate, and genetic mapping
-
Vasiliou, V., Kozak, C. A., Lindahl, R. and Nebert, D. W. (1996) Mouse microsomal Class 3 aldehyde dehydrogenase: AHD3 cDNA sequence, inducibility by dioxin and clofibrate, and genetic mapping. DNA Cell Biol. 15, 235-245.
-
(1996)
DNA Cell Biol.
, vol.15
, pp. 235-245
-
-
Vasiliou, V.1
Kozak, C.A.2
Lindahl, R.3
Nebert, D.W.4
-
54
-
-
0013944734
-
Effects of dietary phytol and phytanic acid in animals
-
Steinberg, D., Avigan, J., Mize, C. E., Baxter, J. H., Cammermeyer, J., Fales, H. M. and Highet, P. F. (1966) Effects of dietary phytol and phytanic acid in animals. J. Lipid. Res. 7, 684-691.
-
(1966)
J. Lipid. Res.
, vol.7
, pp. 684-691
-
-
Steinberg, D.1
Avigan, J.2
Mize, C.E.3
Baxter, J.H.4
Cammermeyer, J.5
Fales, H.M.6
Highet, P.F.7
-
55
-
-
0016422895
-
Metabolism of long-chain isoprenoid alcohols. Incorporation of phytol and dihydrophytol into the lipids of rat brain
-
Su, K. L. and Schmid, H. H. (1975) Metabolism of long-chain isoprenoid alcohols. Incorporation of phytol and dihydrophytol into the lipids of rat brain. Biochim. Biophys. Acta 380, 119-126.
-
(1975)
Biochim. Biophys. Acta
, vol.380
, pp. 119-126
-
-
Su, K.L.1
Schmid, H.H.2
-
57
-
-
0022263547
-
In vitro conversion of phytol to phytanic acid in rat liver: Subcellular distribution of activity and chemical characterization of intermediates using a new bromination technique
-
Muralidharan, F. N. and Muralidharan, V. B. (1985) In vitro conversion of phytol to phytanic acid in rat liver: subcellular distribution of activity and chemical characterization of intermediates using a new bromination technique. Biochim. Biophys. Acta 835, 36-40.
-
(1985)
Biochim. Biophys. Acta
, vol.835
, pp. 36-40
-
-
Muralidharan, F.N.1
Muralidharan, V.B.2
-
58
-
-
0022516905
-
Characterization of phytol-phytanate conversion activity in rat liver
-
Muralidharan, F. N. and Muralidharan, V. B. (1986) Characterization of phytol-phytanate conversion activity in rat liver. Biochim. Biophys. Acta 883, 54-62.
-
(1986)
Biochim. Biophys. Acta
, vol.883
, pp. 54-62
-
-
Muralidharan, F.N.1
Muralidharan, V.B.2
-
59
-
-
1942521283
-
Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid
-
Van den Brink, D. M., Van Miert, J. N., Dacremont, G., Rontani, J. F., Jansen, G. A. and Wanders, R. J. (2004) Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid. Mol. Genet. Metab. 82, 33-37.
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 33-37
-
-
Van Den Brink, D.M.1
Van Miert, J.N.2
Dacremont, G.3
Rontani, J.F.4
Jansen, G.A.5
Wanders, R.J.6
-
60
-
-
0027336311
-
The aerobic bacterial metabolism of phytol in seawater: Temperature dependence of an abiotic intermediate and its consequences
-
Rontani, J. F. and Acquaviva, M. (1993) The aerobic bacterial metabolism of phytol in seawater: temperature dependence of an abiotic intermediate and its consequences. Chemosphere 26, 1513-1525.
-
(1993)
Chemosphere
, vol.26
, pp. 1513-1525
-
-
Rontani, J.F.1
Acquaviva, M.2
-
61
-
-
0032729450
-
Biodegradation of free phytol by bacterial communities isolated from marine sediments under aerobic and denitrifying conditions
-
Rontani, J. F., Bonin, P. C. and Volkman, J. K. (1999) Biodegradation of free phytol by bacterial communities isolated from marine sediments under aerobic and denitrifying conditions. Appl. Environ. Microbiol. 65, 5484-5492.
-
(1999)
Appl. Environ. Microbiol.
, vol.65
, pp. 5484-5492
-
-
Rontani, J.F.1
Bonin, P.C.2
Volkman, J.K.3
-
62
-
-
0030936743
-
Human liver fatty aldehyde dehydrogenase: Microsomal localization, purification, and biochemical characterization
-
Kelson, T. L., Secor, M. Jr and Rizzo, W. B. (1997) Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization. Biochim. Biophys. Acta 1335, 99-110.
-
(1997)
Biochim. Biophys. Acta
, vol.1335
, pp. 99-110
-
-
Kelson, T.L.1
Secor Jr., M.2
Rizzo, W.B.3
-
63
-
-
11144271968
-
Assay for Sjögren-Larsson syndrome based on a deficiency of phytol degradation
-
Van den Brink, D. M., Van Miert, J. M. and Wanders, R. J. (2005) Assay for Sjögren-Larsson syndrome based on a deficiency of phytol degradation. Clin. Chem. 51, 240-242.
-
(2005)
Clin. Chem.
, vol.51
, pp. 240-242
-
-
Van Den Brink, D.M.1
Van Miert, J.M.2
Wanders, R.J.3
-
64
-
-
0018366069
-
Characterization of fatty alcohol:NAD+ oxidoreductase from rat liver
-
Lee, T. (1979) Characterization of fatty alcohol:NAD+ oxidoreductase from rat liver. J. Biol. Chem. 254, 2892-2896.
-
(1979)
J. Biol. Chem.
, vol.254
, pp. 2892-2896
-
-
Lee, T.1
-
65
-
-
0032192355
-
Inherited disorders of fatty alcohol metabolism
-
Rizzo, W. B. (1998) Inherited disorders of fatty alcohol metabolism. Mol. Genet. Metab. 65, 63-73.
-
(1998)
Mol. Genet. Metab.
, vol.65
, pp. 63-73
-
-
Rizzo, W.B.1
-
66
-
-
0029664636
-
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
-
De Laurenzi, V., Rogers, G. R., Hamrock, D. J., Marekov, L. N., Steinert, P. M., Compton, J. G., Markova, N. and Rizzo, W. B. (1996) Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat. Genet. 12, 52-57.
-
(1996)
Nat. Genet.
, vol.12
, pp. 52-57
-
-
De Laurenzi, V.1
Rogers, G.R.2
Hamrock, D.J.3
Marekov, L.N.4
Steinert, P.M.5
Compton, J.G.6
Markova, N.7
Rizzo, W.B.8
-
67
-
-
0022448434
-
Purification of aldehyde dehydrogenase reconstitutively active in fatty alcohol oxidation from rabbit intestinal microsomes
-
Ichihara, K., Noda, Y., Tanaka, C. and Kusunose, M. (1986) Purification of aldehyde dehydrogenase reconstitutively active in fatty alcohol oxidation from rabbit intestinal microsomes. Biochim. Biophys. Acta 878, 419-425.
-
(1986)
Biochim. Biophys. Acta
, vol.878
, pp. 419-425
-
-
Ichihara, K.1
Noda, Y.2
Tanaka, C.3
Kusunose, M.4
-
68
-
-
0022530641
-
Some properties of the fatty alcohol oxidation system and reconstitution of microsomal oxidation activity in intestinal mucosa
-
Ichihara, K., Kusunose, E., Noda, Y. and Kusunose, M. (1986) Some properties of the fatty alcohol oxidation system and reconstitution of microsomal oxidation activity in intestinal mucosa. Biochim. Biophys. Acta 878, 412-418.
-
(1986)
Biochim. Biophys. Acta
, vol.878
, pp. 412-418
-
-
Ichihara, K.1
Kusunose, E.2
Noda, Y.3
Kusunose, M.4
-
69
-
-
0033624142
-
Sjögren-Larsson syndrome: Accumulation of free fatty alcohols in cultured fibroblasts and plasma
-
Rizzo, W. B. and Craft, D. A. (2000) Sjögren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma. J. Lipid Res. 41, 1077-1081.
-
(2000)
J. Lipid Res.
, vol.41
, pp. 1077-1081
-
-
Rizzo, W.B.1
Craft, D.A.2
-
70
-
-
0033233482
-
The molecular basis of Sjögren-Larsson syndrome: Mutation analysis of the fatty aldehyde dehydrogenase gene
-
Rizzo, W. B., Carney, G. and Lin, Z. (1999) The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am. J. Hum. Genet. 65, 1547-1560.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1547-1560
-
-
Rizzo, W.B.1
Carney, G.2
Lin, Z.3
-
71
-
-
0034957331
-
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome
-
Willemsen, M. A., Ijlst, L., Steijlen, P. M., Rotteveel, J. J., de Jong, J. G., van Domburg, P. H., Mayatepek, E., Gabreels, F. J. and Wanders, R. J. (2001) Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. Brain 124, 1426-1437.
-
(2001)
Brain
, vol.124
, pp. 1426-1437
-
-
Willemsen, M.A.1
Ijlst, L.2
Steijlen, P.M.3
Rotteveel, J.J.4
De Jong, J.G.5
Van Domburg, P.H.6
Mayatepek, E.7
Gabreels, F.J.8
Wanders, R.J.9
-
72
-
-
2142640189
-
MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: Characterization of the leukoencephalopathy
-
Willemsen, M. A., Van Der Graaf M., Van Der Knaap, M. S., Heerschap, A., Van Domburg, P. H., Gabreels, F. J. and Rotteveel, J. J. (2004) MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy. AJNR Am. J. Neuroradiol. 25, 649-657.
-
(2004)
AJNR Am. J. Neuroradiol.
, vol.25
, pp. 649-657
-
-
Willemsen, M.A.1
Van Der Graaf, M.2
Van Der Knaap, M.S.3
Heerschap, A.4
Van Domburg, P.H.5
Gabreels, F.J.6
Rotteveel, J.J.7
-
73
-
-
22844437773
-
Characterization of the final step in the conversion of phytol into phytanic acid
-
Van den Brink, D. M., van Miert, J. N., Dacremont, G., Rontani, J. F. and Wanders, R. J. (2005) Characterization of the final step in the conversion of phytol into phytanic acid. J. Biol. Chem. 280, 26838-26844.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 26838-26844
-
-
Van Den Brink, D.M.1
Van Miert, J.N.2
Dacremont, G.3
Rontani, J.F.4
Wanders, R.J.5
-
74
-
-
0028027674
-
Phytanic acid must be activated to phytanoyl-CoA prior to its alpha-oxidation in rat liver peroxisomes
-
Watkins, P. A., Howard, A. E. and Mihalik, S. J. (1994) Phytanic acid must be activated to phytanoyl-CoA prior to its alpha-oxidation in rat liver peroxisomes. Biochim. Biophys. Acta 1214, 288-294.
-
(1994)
Biochim. Biophys. Acta
, vol.1214
, pp. 288-294
-
-
Watkins, P.A.1
Howard, A.E.2
Mihalik, S.J.3
-
75
-
-
0034637597
-
Molecular cloning and expression of mammalian peroxisomal trans-2-enoyl-coenzyme A reductase cDNAs
-
Das, A. K., Uhler, M. D. and Hajra, A. K. (2000) Molecular cloning and expression of mammalian peroxisomal trans-2-enoyl-coenzyme A reductase cDNAs. J. Biol. Chem. 275, 24333-24340.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 24333-24340
-
-
Das, A.K.1
Uhler, M.D.2
Hajra, A.K.3
-
76
-
-
0001687866
-
The peroxisome biogenesis disorders
-
Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D., Eds, McGraw-Hill, New York
-
Gould, S. J., Raymond, G. V. and Valle, D. (2001) The peroxisome biogenesis disorders. In: The Metabolic and Molecular Bases of Inherited Disease, (Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D., Eds), pp. 3181-3217. McGraw-Hill, New York.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3181-3217
-
-
Gould, S.J.1
Raymond, G.V.2
Valle, D.3
-
77
-
-
14244267510
-
Peroxisomal disorders I: Biochemistry and genetics of peroxisome biogenesis disorders
-
Wanders, R. J. and Waterham, H. R. (2005) Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin. Genet. 67, 107-133.
-
(2005)
Clin. Genet.
, vol.67
, pp. 107-133
-
-
Wanders, R.J.1
Waterham, H.R.2
-
78
-
-
0034255179
-
Peroxisome biogenesis disorders: Genetics and cell biology
-
Gould, S. J. and Valle, D. (2000) Peroxisome biogenesis disorders: genetics and cell biology. Trends. Genet. 16, 340-345.
-
(2000)
Trends. Genet.
, vol.16
, pp. 340-345
-
-
Gould, S.J.1
Valle, D.2
-
79
-
-
0026742469
-
Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis
-
Smeitink, J. A., Beemer, F. A., Espeel, M., Donckerwolcke, R. A., Jakobs, C., Wanders, R. J., Schutgens, R. B., Roels, F., Duran, M., Dorland, L., Berger, R. and Poll-The, B. T. (1992) Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis. J. Inherit. Metab. Dis. 15, 377-380.
-
(1992)
J. Inherit. Metab. Dis.
, vol.15
, pp. 377-380
-
-
Smeitink, J.A.1
Beemer, F.A.2
Espeel, M.3
Donckerwolcke, R.A.4
Jakobs, C.5
Wanders, R.J.6
Schutgens, R.B.7
Roels, F.8
Duran, M.9
Dorland, L.10
Berger, R.11
Poll-The, B.T.12
-
80
-
-
18944372099
-
Biogenesis of peroxisomes. Topogenesis of the peroxisomal membrane and matrix proteins
-
Heiland, I. and Erdmann, R. (2005) Biogenesis of peroxisomes. Topogenesis of the peroxisomal membrane and matrix proteins. FEBS J. 272, 2362-2372.
-
(2005)
FEBS J.
, vol.272
, pp. 2362-2372
-
-
Heiland, I.1
Erdmann, R.2
-
81
-
-
0029671098
-
L-lactate dehydrogenase A4- And A3B isoforms are bona fide peroxisomal enzymes in rat liver. Evidence for involvement in intraperoxisomal NADH reoxidation
-
Baumgart, E., Fahimi, H. D., Stich, A. and Volkl, A. (1996) L-lactate dehydrogenase A4- and A3B isoforms are bona fide peroxisomal enzymes in rat liver. Evidence for involvement in intraperoxisomal NADH reoxidation. J. Biol. Chem. 271, 3846-3855.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 3846-3855
-
-
Baumgart, E.1
Fahimi, H.D.2
Stich, A.3
Volkl, A.4
-
82
-
-
0035854666
-
Protein translocation machineries of peroxisomes
-
Holroyd, C. and Erdmann, R. (2001) Protein translocation machineries of peroxisomes. FEBS Lett. 501, 6-10.
-
(2001)
FEBS Lett.
, vol.501
, pp. 6-10
-
-
Holroyd, C.1
Erdmann, R.2
-
83
-
-
0033787313
-
Import of peroxisomal matrix and membrane proteins
-
Subramani, S., Koller, A. and Snyder, W. B. (2000) Import of peroxisomal matrix and membrane proteins. Annu. Rev. Biochem. 69, 399-418.
-
(2000)
Annu. Rev. Biochem.
, vol.69
, pp. 399-418
-
-
Subramani, S.1
Koller, A.2
Snyder, W.B.3
-
85
-
-
0032925139
-
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: A minireview
-
Purdue, P. E., Skoneczny, M., Yang, X., Zhang, J. W. and Lazarow, P. B. (1999) Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. Neurochem. Res. 24, 581-586.
-
(1999)
Neurochem. Res.
, vol.24
, pp. 581-586
-
-
Purdue, P.E.1
Skoneczny, M.2
Yang, X.3
Zhang, J.W.4
Lazarow, P.B.5
-
86
-
-
18644380928
-
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
-
Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T., Boneh, A., Moser, A., Moser, H. and Valle, D. (2002) Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum. Mutat. 20, 284-297.
-
(2002)
Hum. Mutat.
, vol.20
, pp. 284-297
-
-
Braverman, N.1
Chen, L.2
Lin, P.3
Obie, C.4
Steel, G.5
Douglas, P.6
Chakraborty, P.K.7
Clarke, J.T.8
Boneh, A.9
Moser, A.10
Moser, H.11
Valle, D.12
-
87
-
-
0036178209
-
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1
-
Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. and Waterham, H. R. (2002) Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am. J. Hum. Genet. 70, 612-624.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 612-624
-
-
Motley, A.M.1
Brites, P.2
Gerez, L.3
Hogenhout, E.4
Haasjes, J.5
Benne, R.6
Tabak, H.F.7
Wanders, R.J.8
Waterham, H.R.9
-
88
-
-
0029153135
-
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups
-
Moser, A. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M., Hajra, A. K., Chen, G., Raymond, G., Liu, A., Gordon, D. and. (1995) Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J. Pediatr. 127, 13-22.
-
(1995)
J. Pediatr.
, vol.127
, pp. 13-22
-
-
Moser, A.B.1
Rasmussen, M.2
Naidu, S.3
Watkins, P.A.4
McGuinness, M.5
Hajra, A.K.6
Chen, G.7
Raymond, G.8
Liu, A.9
Gordon, D.10
-
89
-
-
0002248566
-
Heredopathia atactica polyneuritiformis
-
Refsum, S. (1946) Heredopathia atactica polyneuritiformis. Acta Psychiatr. Scand. 38S, 9-303.
-
(1946)
Acta Psychiatr. Scand.
, vol.38
, pp. 9-303
-
-
Refsum, S.1
-
90
-
-
0000358089
-
Refsum Disease
-
Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D., Eds, McGraw-Hill, New York
-
Wanders, R. J. A., Jakobs, C. and Skjeldal, O. H. (2001) Refsum Disease. In: The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D., Eds), pp. 3303-3321. McGraw-Hill, New York.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3303-3321
-
-
Wanders, R.J.A.1
Jakobs, C.2
Skjeldal, O.H.3
-
91
-
-
4344614287
-
Smell testing: An additional tool for identification of adult Refsum's disease
-
Gibberd, F. B., Feher, M. D., Sidey, M. C. and Wierzbicki, A. S. (2004) Smell testing: an additional tool for identification of adult Refsum's disease. J. Neurol. Neurosurg. Psychiatry 75, 1334-1336.
-
(2004)
J. Neurol. Neurosurg. Psychiatry
, vol.75
, pp. 1334-1336
-
-
Gibberd, F.B.1
Feher, M.D.2
Sidey, M.C.3
Wierzbicki, A.S.4
-
92
-
-
0025282361
-
Skeletal abnormalities in Refsum's disease (heredopathia atactica polyneuritiformis)
-
Plant, G. R., Hansell, D. M., Gibberd, F. B. and Sidey, M. C. (1990) Skeletal abnormalities in Refsum's disease (heredopathia atactica polyneuritiformis). Br. J. Radiol. 63, 537-541.
-
(1990)
Br. J. Radiol.
, vol.63
, pp. 537-541
-
-
Plant, G.R.1
Hansell, D.M.2
Gibberd, F.B.3
Sidey, M.C.4
-
93
-
-
0036316242
-
Refsum's disease: A peroxisomal disorder affecting phytanic acid alpha-oxidation
-
Wierzbicki, A. S., Lloyd, M. D., Schofield, C. J., Feher, M. D. and Gibberd, F. B. (2002) Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J. Neurochem. 80, 727-735.
-
(2002)
J. Neurochem.
, vol.80
, pp. 727-735
-
-
Wierzbicki, A.S.1
Lloyd, M.D.2
Schofield, C.J.3
Feher, M.D.4
Gibberd, F.B.5
-
94
-
-
0030946632
-
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata
-
Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J. and Valle, D. (1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat. Genet. 15, 369-376.
-
(1997)
Nat. Genet.
, vol.15
, pp. 369-376
-
-
Braverman, N.1
Steel, G.2
Obie, C.3
Moser, A.4
Moser, H.5
Gould, S.J.6
Valle, D.7
-
95
-
-
84984777129
-
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
-
Jansen, G. A., Ofman, R., Ferdinandusse, S., Ijlst, L., Muijsers, A. O., Skjeldal, O. H., Stokke, O., Jakobs, C., Besley, G. T., Wraith, J. E. and Wanders, R. J. (1997) Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat. Genet. 17, 190-193.
-
(1997)
Nat. Genet.
, vol.17
, pp. 190-193
-
-
Jansen, G.A.1
Ofman, R.2
Ferdinandusse, S.3
Ijlst, L.4
Muijsers, A.O.5
Skjeldal, O.H.6
Stokke, O.7
Jakobs, C.8
Besley, G.T.9
Wraith, J.E.10
Wanders, R.J.11
-
96
-
-
0347093580
-
Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: Implications for Refsum disease?
-
Foulon, V., Asselberghs, S., Geens, W., Mannaerts, G. P., Casteels, M. and Van Veldhoven, P. P. (2003) Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? J. Lipid Res. 44, 2349-2355.
-
(2003)
J. Lipid Res.
, vol.44
, pp. 2349-2355
-
-
Foulon, V.1
Asselberghs, S.2
Geens, W.3
Mannaerts, G.P.4
Casteels, M.5
Van Veldhoven, P.P.6
-
97
-
-
1542724509
-
Molecular basis of Refsum disease: Sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7)
-
Jansen, G. A., Waterham, H. R. and Wanders, R. J. (2004) Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum. Mutat. 23, 209-218.
-
(2004)
Hum. Mutat.
, vol.23
, pp. 209-218
-
-
Jansen, G.A.1
Waterham, H.R.2
Wanders, R.J.3
-
98
-
-
28844469201
-
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease
-
McDonough, M. A., Kavanagh, K. L., Butler, D., Searls, T., Oppermann, U. and Schofield, C. J. (2005) Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. J. Biol. Chem. 280, 41101-41110.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 41101-41110
-
-
McDonough, M.A.1
Kavanagh, K.L.2
Butler, D.3
Searls, T.4
Oppermann, U.5
Schofield, C.J.6
-
99
-
-
0033882699
-
Identification of genetic heterogeneity in Refsum's disease
-
Wierzbicki, A. S., Mitchell, J., Lambert-Hammill, M., Hancock, M., Greenwood, J., Sidey, M. C., de Belleroche, J. and Gibberd, F. B. (2000) Identification of genetic heterogeneity in Refsum's disease. Eur. J. Hum. Genet. 8, 649-651.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 649-651
-
-
Wierzbicki, A.S.1
Mitchell, J.2
Lambert-Hammill, M.3
Hancock, M.4
Greenwood, J.5
Sidey, M.C.6
De Belleroche, J.7
Gibberd, F.B.8
-
100
-
-
0037318856
-
Identification of PEX7 as the second gene involved in Refsum disease
-
Van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J. , Jansen, G. A., Waterham, H. R. and Wanders, R. J. (2003) Identification of PEX7 as the second gene involved in Refsum disease. Am. J. Hum. Genet. 72, 471-477.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 471-477
-
-
Van Den Brink, D.M.1
Brites, P.2
Haasjes, J.3
Wierzbicki, A.S.4
Mitchell, J.5
Lambert-Hamill, M.6
De Belleroche, J.7
Jansen, G.A.8
Waterham, H.R.9
Wanders, R.J.10
-
101
-
-
9344249538
-
Phytol metabolites are circulating dietary factors that activate the nuclear receptor RXR
-
Kitareewan, S., Burka, L. T., Tomer, K. B., Parker, C. E., Deterding, L. J., Stevens, R. D., Forman, B. M., Mais, D. E., Heyman, R. A., McMorris, T. and Weinberger, C. (1996) Phytol metabolites are circulating dietary factors that activate the nuclear receptor RXR. Mol. Biol. Cell 7, 1153-1166.
-
(1996)
Mol. Biol. Cell
, vol.7
, pp. 1153-1166
-
-
Kitareewan, S.1
Burka, L.T.2
Tomer, K.B.3
Parker, C.E.4
Deterding, L.J.5
Stevens, R.D.6
Forman, B.M.7
Mais, D.E.8
Heyman, R.A.9
McMorris, T.10
Weinberger, C.11
-
102
-
-
0029664544
-
Phytanic acid is a retinoid X receptor ligand
-
Lemotte, P. K., Keidel, S. and Apfel, C. M. (1996) Phytanic acid is a retinoid X receptor ligand. Eur. J. Biochem. 236, 328-333.
-
(1996)
Eur. J. Biochem.
, vol.236
, pp. 328-333
-
-
Lemotte, P.K.1
Keidel, S.2
Apfel, C.M.3
-
103
-
-
0032957086
-
Phytanic acid is ligand and transcriptional activator of murine liver fatty acid binding protein
-
Wolfram, C., Ellinghaus, P., Fobker, M., Seedorf, U., Assmann, G., Horchers, T. and Spener, F. (1999) Phytanic acid is ligand and transcriptional activator of murine liver fatty acid binding protein. J. Lipid Res. 40, 708-714.
-
(1999)
J. Lipid Res.
, vol.40
, pp. 708-714
-
-
Wolfram, C.1
Ellinghaus, P.2
Fobker, M.3
Seedorf, U.4
Assmann, G.5
Horchers, T.6
Spener, F.7
-
104
-
-
0033739281
-
Pristanic acid and phytanic acid: Naturally occurring ligands for the nuclear receptor peroxisome proliferator-activated receptor alpha
-
Zomer, A. W., van Der Burg, B., Jansen, G. A., Wanders, R. J., Poll-The, B. T. and van Der Saag, P. T. (2000) Pristanic acid and phytanic acid: naturally occurring ligands for the nuclear receptor peroxisome proliferator-activated receptor alpha. J. Lipid Res. 41, 1801-1807.
-
(2000)
J. Lipid Res.
, vol.41
, pp. 1801-1807
-
-
Zomer, A.W.1
Van Der Burg, B.2
Jansen, G.A.3
Wanders, R.J.4
Poll-The, B.T.5
Van Der Saag, P.T.6
-
105
-
-
21744450600
-
A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPA-Ralpha-dependent and -independent pathways
-
Gloerich, J., van Vlies, N., Jansen, G. A., Denis, S., Ruiter, J. P., van Werkhoven, M. A., Duran, M., Vaz, F. M., Wanders, R. J. and Ferdinandusse, S. (2005) A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPA-Ralpha-dependent and -independent pathways. J. Lipid Res. 46, 716-726.
-
(2005)
J. Lipid Res.
, vol.46
, pp. 716-726
-
-
Gloerich, J.1
Van Vlies, N.2
Jansen, G.A.3
Denis, S.4
Ruiter, J.P.5
Van Werkhoven, M.A.6
Duran, M.7
Vaz, F.M.8
Wanders, R.J.9
Ferdinandusse, S.10
|