-
1
-
-
0343835826
-
Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria
-
10471774 10.1016/S0014-5793(99)01009-1
-
Schönfeld P, Struy H. Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria. FEBS Lett. 1999;457(2):179-83.
-
(1999)
FEBS Lett
, vol.457
, Issue.2
, pp. 179-183
-
-
Schönfeld, P.1
Struy, H.2
-
2
-
-
0034764947
-
Refsum disease, peroxisomes and phytanic acid oxidation: A review
-
11706932 1:CAS:528:DC%2BD3MXosFChu78%3D
-
Wanders R, Jansen G, Skjeldal O. Refsum disease, peroxisomes and phytanic acid oxidation: a review. J Neuropathol Exp Neurol. 2001;60(11):1021-31.
-
(2001)
J Neuropathol Exp Neurol
, vol.60
, Issue.11
, pp. 1021-1031
-
-
Wanders, R.1
Jansen, G.2
Skjeldal, O.3
-
3
-
-
0347093580
-
Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: Implications for Refsum disease?
-
12923223 10.1194/jlr.M300230-JLR200 1:CAS:528:DC%2BD2cXmsVylsQ%3D%3D
-
Foulon V, Asselberghs S, Geens W, Mannaerts GP, Casteels M, Van Veldhoven PP. Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? J Lipid Res. 2003;44(12):2349-55.
-
(2003)
J Lipid Res
, vol.44
, Issue.12
, pp. 2349-2355
-
-
Foulon, V.1
Asselberghs, S.2
Geens, W.3
Mannaerts, G.P.4
Casteels, M.5
Van Veldhoven, P.P.6
-
4
-
-
56649124783
-
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease
-
19004801 10.1073/pnas.0806066105 1:CAS:528:DC%2BD1cXhsVCmtbfF
-
Ferdinandusse S, Zomer AW, Komen JC, van den Brink CE, Thanos M, Hamers FP, et al. Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. Proc Natl Acad Sci U S A. 2008;105(46):17712-7.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, Issue.46
, pp. 17712-17717
-
-
Ferdinandusse, S.1
Zomer, A.W.2
Komen, J.C.3
Van Den Brink, C.E.4
Thanos, M.5
Hamers, F.P.6
-
5
-
-
0036316242
-
Refsum's disease: A peroxisomal disorder affecting phytanic acid alpha-oxidation
-
11948235 10.1046/j.0022-3042.2002.00766.x 1:CAS:528:DC%2BD38Xit1Gnu7w%3D
-
Wierzbicki A, Lloyd M, Schofield C, Feher M, Gibberd F. Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J Neurochem. 2002;80(5):727-35.
-
(2002)
J Neurochem
, vol.80
, Issue.5
, pp. 727-735
-
-
Wierzbicki, A.1
Lloyd, M.2
Schofield, C.3
Feher, M.4
Gibberd, F.5
-
6
-
-
0026499852
-
Autopsy findings in two siblings with infantile Refsum disease
-
1373019 10.1007/BF00308478 1:STN:280:DyaK383hsVSltA%3D%3D
-
Chow CW, Poulos A, Fellenberg AJ, Christodoulou J, Danks DM. Autopsy findings in two siblings with infantile Refsum disease. Acta Neuropathol. 1992;83(2):190-5.
-
(1992)
Acta Neuropathol
, vol.83
, Issue.2
, pp. 190-195
-
-
Chow, C.W.1
Poulos, A.2
Fellenberg, A.J.3
Christodoulou, J.4
Danks, D.M.5
-
7
-
-
0014028658
-
Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis
-
4159604 10.1016/S0140-6736(66)91632-1 1:STN:280:DyaF28%2FpslWntw%3D%3D
-
Eldjarn L, Try K, Stokke O, Munthe-Kaas A, Refsum S, Steinberg D, et al. Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis. Lancet. 1966;1(7439):691-3.
-
(1966)
Lancet
, vol.1
, Issue.7439
, pp. 691-693
-
-
Eldjarn, L.1
Try, K.2
Stokke, O.3
Munthe-Kaas, A.4
Refsum, S.5
Steinberg, D.6
-
8
-
-
0018352405
-
Heredopathia atactica polyneuritiformis (Refsum's disease) treated by diet and plasma-exchange
-
85164 10.1016/S0140-6736(79)91005-5 1:STN:280:DyaE1M7jtl2jsw%3D%3D
-
Gibberd F, Billimoria J, Page N, Retsas S. Heredopathia atactica polyneuritiformis (Refsum's disease) treated by diet and plasma-exchange. Lancet. 1979;1(8116):575-8.
-
(1979)
Lancet
, vol.1
, Issue.8116
, pp. 575-578
-
-
Gibberd, F.1
Billimoria, J.2
Page, N.3
Retsas, S.4
-
9
-
-
0021916837
-
Refsum's disease: Management by diet and plasmapheresis
-
2581787 10.1159/000115788
-
Hungerbühler J, Meier C, Rousselle L, Quadri P, Bogousslavsky J. Refsum's disease: management by diet and plasmapheresis. Eur Neurol. 1985;24(3):153-9.
-
(1985)
Eur Neurol
, vol.24
, Issue.3
, pp. 153-159
-
-
Hungerbühler, J.1
Meier, C.2
Rousselle, L.3
Quadri, P.4
Bogousslavsky, J.5
-
10
-
-
84907106115
-
Heredopathia atactica polyneuritiformis (Refsum's disease): 1. Clinical features and dietary management
-
6157716 1:STN:280:DyaL3M%2FgslymtQ%3D%3D
-
Masters-Thomas A, Bailes J, Billimoria J, Clemens M, Gibberd F, Page N. Heredopathia atactica polyneuritiformis (Refsum's disease): 1. Clinical features and dietary management. J Hum Nutr. 1980;34(4):245-50.
-
(1980)
J Hum Nutr
, vol.34
, Issue.4
, pp. 245-250
-
-
Masters-Thomas, A.1
Bailes, J.2
Billimoria, J.3
Clemens, M.4
Gibberd, F.5
Page, N.6
-
11
-
-
39749127916
-
Phytanic acid impairs mitochondrial respiration through protonophoric action
-
17968498 10.1007/s00018-007-7357-7 1:CAS:528:DC%2BD1cXmtVyksA%3D%3D
-
Komen J, Distelmaier F, Koopman W, Wanders R, Smeitink J, Willems P. Phytanic acid impairs mitochondrial respiration through protonophoric action. Cell Mol Life Sci. 2007;64(24):3271-81.
-
(2007)
Cell Mol Life Sci
, vol.64
, Issue.24
, pp. 3271-3281
-
-
Komen, J.1
Distelmaier, F.2
Koopman, W.3
Wanders, R.4
Smeitink, J.5
Willems, P.6
-
12
-
-
11844255781
-
2+ homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes
-
15649701 10.1016/j.nbd.2004.08.010 1:CAS:528:DC%2BD2MXkslOgsw%3D%3D
-
2+ homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes. Neurobiol Dis. 2005;18(1):110-8.
-
(2005)
Neurobiol Dis
, vol.18
, Issue.1
, pp. 110-118
-
-
Kahlert, S.1
Schönfeld, P.2
Reiser, G.3
-
13
-
-
70349783629
-
The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes
-
19703563 10.1016/j.nbd.2009.08.005
-
Rönicke S, Kruska N, Kahlert S, Reiser G. The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes. Neurobiol Dis. 2009;36(2):401-10.
-
(2009)
Neurobiol Dis
, vol.36
, Issue.2
, pp. 401-410
-
-
Rönicke, S.1
Kruska, N.2
Kahlert, S.3
Reiser, G.4
-
14
-
-
33646354917
-
Rotenone-like action of the branched-chain phytanic acid induces oxidative stress in mitochondria
-
16410242 10.1074/jbc.M513198200
-
Schönfeld P, Reiser G. Rotenone-like action of the branched-chain phytanic acid induces oxidative stress in mitochondria. J Biol Chem. 2006;281(11):7136-42.
-
(2006)
J Biol Chem
, vol.281
, Issue.11
, pp. 7136-7142
-
-
Schönfeld, P.1
Reiser, G.2
-
15
-
-
0037147188
-
Branched chain fatty acids induce nitric oxide-dependent apoptosis in vascular smooth muscle cells
-
12368296 10.1074/jbc.M204639200 1:CAS:528:DC%2BD38XpsFalu7k%3D
-
Idel S, Ellinghaus P, Wolfrum C, Nofer J, Gloerich J, Assmann G, et al. Branched chain fatty acids induce nitric oxide-dependent apoptosis in vascular smooth muscle cells. J Biol Chem. 2002;277(51):49319-25.
-
(2002)
J Biol Chem
, vol.277
, Issue.51
, pp. 49319-49325
-
-
Idel, S.1
Ellinghaus, P.2
Wolfrum, C.3
Nofer, J.4
Gloerich, J.5
Assmann, G.6
-
16
-
-
77955775880
-
Neurochemical evidence that phytanic acid induces oxidative damage and reduces the antioxidant defenses in cerebellum and cerebral cortex of rats
-
20619275 10.1016/j.lfs.2010.06.015 1:CAS:528:DC%2BC3cXhtVKisbzN
-
Leipnitz G, Amaral A, Zanatta A, Seminotti B, Fernandes C, Knebel L, et al. Neurochemical evidence that phytanic acid induces oxidative damage and reduces the antioxidant defenses in cerebellum and cerebral cortex of rats. Life Sci. 2010;87(9-10):275-80.
-
(2010)
Life Sci
, vol.87
, Issue.9-10
, pp. 275-280
-
-
Leipnitz, G.1
Amaral, A.2
Zanatta, A.3
Seminotti, B.4
Fernandes, C.5
Knebel, L.6
-
17
-
-
77956180722
-
In vitro evidence that phytanic acid compromises Na(+), K(+)-ATPase activity and the electron flow through the respiratory chain in brain cortex from young rats
-
20624373 10.1016/j.brainres.2010.07.012 1:CAS:528:DC%2BC3cXhtVKisLnM
-
Busanello E, Viegas C, Moura A, Tonin A, Grings M, Vargas C, et al. In vitro evidence that phytanic acid compromises Na(+), K(+)-ATPase activity and the electron flow through the respiratory chain in brain cortex from young rats. Brain Res. 2010;1352:231-8.
-
(2010)
Brain Res
, vol.1352
, pp. 231-238
-
-
Busanello, E.1
Viegas, C.2
Moura, A.3
Tonin, A.4
Grings, M.5
Vargas, C.6
-
18
-
-
0023597602
-
Cerebral ischemia and reperfusion: Prevention of brain mitochondrial injury by lidoflazine
-
3693430 10.1038/jcbfm.1987.130 1:CAS:528:DyaL1cXhtVKitbo%3D
-
Rosenthal R, Hamud F, Fiskum G, Varghese P, Sharpe S. Cerebral ischemia and reperfusion: prevention of brain mitochondrial injury by lidoflazine. J Cereb Blood Flow Metab. 1987;7(6):752-8.
-
(1987)
J Cereb Blood Flow Metab
, vol.7
, Issue.6
, pp. 752-758
-
-
Rosenthal, R.1
Hamud, F.2
Fiskum, G.3
Varghese, P.4
Sharpe, S.5
-
19
-
-
77949913454
-
Alpha-ketoisocaproic acid and leucine provoke mitochondrial bioenergetic dysfunction in rat brain
-
20153737 10.1016/j.brainres.2010.02.018 1:CAS:528:DC%2BC3cXktlertb0%3D
-
Amaral AU, Leipnitz G, Fernandes CG, Seminotti B, Schuck PF, Wajner M. Alpha-ketoisocaproic acid and leucine provoke mitochondrial bioenergetic dysfunction in rat brain. Brain Res. 2010;1324:75-84.
-
(2010)
Brain Res
, vol.1324
, pp. 75-84
-
-
Amaral, A.U.1
Leipnitz, G.2
Fernandes, C.G.3
Seminotti, B.4
Schuck, P.F.5
Wajner, M.6
-
20
-
-
70349281392
-
Evidence that the major metabolites accumulating in medium-chain acyl-CoA dehydrogenase deficiency disturb mitochondrial energy homeostasis in rat brain
-
19703432 10.1016/j.brainres.2009.08.053 1:CAS:528:DC%2BD1MXhtFyqsb%2FL
-
Schuck PF, Ferreira GC, Tonin AM, Viegas CM, Busanello EN, Moura AP, et al. Evidence that the major metabolites accumulating in medium-chain acyl-CoA dehydrogenase deficiency disturb mitochondrial energy homeostasis in rat brain. Brain Res. 2009;1296:117-26.
-
(2009)
Brain Res
, vol.1296
, pp. 117-126
-
-
Schuck, P.F.1
Ferreira, G.C.2
Tonin, A.M.3
Viegas, C.M.4
Busanello, E.N.5
Moura, A.P.6
-
22
-
-
0017201717
-
Safranine as a probe of the mitochondrial membrane potential
-
976474 10.1016/0014-5793(76)80434-6 1:CAS:528:DyaE28Xlsleks70%3D
-
Akerman KE, Wikström MK. Safranine as a probe of the mitochondrial membrane potential. FEBS Lett. 1976;68(2):191-7.
-
(1976)
FEBS Lett
, vol.68
, Issue.2
, pp. 191-197
-
-
Akerman, K.E.1
Wikström, M.K.2
-
23
-
-
0037044737
-
Effect of Bcl-2 overexpression on mitochondrial structure and function
-
12207028 10.1074/jbc.M207765200 1:CAS:528:DC%2BD38Xos1entL8%3D
-
Kowaltowski AJ, Cosso RG, Campos CB, Fiskum G. Effect of Bcl-2 overexpression on mitochondrial structure and function. J Biol Chem. 2002;277(45):42802-7.
-
(2002)
J Biol Chem
, vol.277
, Issue.45
, pp. 42802-42807
-
-
Kowaltowski, A.J.1
Cosso, R.G.2
Campos, C.B.3
Fiskum, G.4
-
24
-
-
77954956650
-
Cis-4-decenoic acid provokes mitochondrial bioenergetic dysfunction in rat brain
-
20540954 10.1016/j.lfs.2010.05.019 1:CAS:528:DC%2BC3cXptlaktLc%3D
-
Schuck PF, Ferreira GC, Tahara EB, Klamt F, Kowaltowski AJ, Wajner M. cis-4-decenoic acid provokes mitochondrial bioenergetic dysfunction in rat brain. Life Sci. 2010;87(5-6):139-46.
-
(2010)
Life Sci
, vol.87
, Issue.5-6
, pp. 139-146
-
-
Schuck, P.F.1
Ferreira, G.C.2
Tahara, E.B.3
Klamt, F.4
Kowaltowski, A.J.5
Wajner, M.6
-
25
-
-
0017184389
-
A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
-
942051 10.1016/0003-2697(76)90527-3 1:CAS:528:DyaE28XksVehtrY%3D
-
Bradford MM. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem. 1976;72:248-54.
-
(1976)
Anal Biochem
, vol.72
, pp. 248-254
-
-
Bradford, M.M.1
-
26
-
-
79959225282
-
Infantile refsum disease with enamel defects: A case report
-
21703082
-
Tran D, Greenhill W, Wilson S. Infantile refsum disease with enamel defects: a case report. Pediatr Dent. 2011;33(3):266-70.
-
(2011)
Pediatr Dent
, vol.33
, Issue.3
, pp. 266-270
-
-
Tran, D.1
Greenhill, W.2
Wilson, S.3
-
28
-
-
33748969187
-
Participation of ATP/ADP antiporter in oleate- and oleate hydroperoxide-induced uncoupling suppressed by GDP and carboxyatractylate
-
16765906 1:CAS:528:DC%2BD28XhtVanu7%2FM
-
Khailova LS, Prikhodko EA, Dedukhova VI, Mokhova EN, Popov VN, Skulachev VP. Participation of ATP/ADP antiporter in oleate- and oleate hydroperoxide-induced uncoupling suppressed by GDP and carboxyatractylate. Biochim Biophys Acta. 2006;1757(9-10):1324-9.
-
(2006)
Biochim Biophys Acta
, vol.1757
, Issue.9-10
, pp. 1324-1329
-
-
Khailova, L.S.1
Prikhodko, E.A.2
Dedukhova, V.I.3
Mokhova, E.N.4
Popov, V.N.5
Skulachev, V.P.6
-
29
-
-
0034691657
-
Comparative study on uncoupling effects of laurate and lauryl sulfate on rat liver and skeletal muscle mitochondria
-
10924910 10.1016/S0005-2728(00)00146-8 1:CAS:528:DC%2BD3cXltlWntbw%3D
-
Samartsev VN, Simonyan RA, Markova OV, Mokhova EN, Skulachev VP. Comparative study on uncoupling effects of laurate and lauryl sulfate on rat liver and skeletal muscle mitochondria. Biochim Biophys Acta. 2000;1459(1):179-90.
-
(2000)
Biochim Biophys Acta
, vol.1459
, Issue.1
, pp. 179-190
-
-
Samartsev, V.N.1
Simonyan, R.A.2
Markova, O.V.3
Mokhova, E.N.4
Skulachev, V.P.5
-
30
-
-
0032564864
-
Uncoupling: New approaches to an old problem of bioenergetics
-
9507078 10.1016/S0005-2728(97)00091-1 1:CAS:528:DyaK1cXht1WisL4%3D
-
Skulachev VP. Uncoupling: new approaches to an old problem of bioenergetics. Biochim Biophys Acta. 1998;1363(2):100-24.
-
(1998)
Biochim Biophys Acta
, vol.1363
, Issue.2
, pp. 100-124
-
-
Skulachev, V.P.1
-
31
-
-
0025930608
-
Fatty acid circuit as a physiological mechanism of uncoupling of oxidative phosphorylation
-
1756853 10.1016/0014-5793(91)80658-P 1:CAS:528:DyaK38XnvVKqtw%3D%3D
-
Skulachev VP. Fatty acid circuit as a physiological mechanism of uncoupling of oxidative phosphorylation. FEBS Lett. 1991;294(3):158-62.
-
(1991)
FEBS Lett
, vol.294
, Issue.3
, pp. 158-162
-
-
Skulachev, V.P.1
-
32
-
-
0037726805
-
Intrinsic and extrinsic uncoupling of oxidative phosphorylation
-
12765765 10.1016/S0005-2728(03)00027-6 1:CAS:528:DC%2BD3sXjvFahs7k%3D
-
Kadenbach B. Intrinsic and extrinsic uncoupling of oxidative phosphorylation. Biochim Biophys Acta. 2003;1604(2):77-94.
-
(2003)
Biochim Biophys Acta
, vol.1604
, Issue.2
, pp. 77-94
-
-
Kadenbach, B.1
-
33
-
-
6344243204
-
In brain mitochondria the branched-chain fatty acid phytanic acid impairs energy transduction and sensitizes for permeability transition
-
15198638
-
Schönfeld P, Kahlert S, Reiser G. In brain mitochondria the branched-chain fatty acid phytanic acid impairs energy transduction and sensitizes for permeability transition. Biochem J. 2004;383(Pt 1):121-8.
-
(2004)
Biochem J
, vol.383
, Issue.PART 1
, pp. 121-128
-
-
Schönfeld, P.1
Kahlert, S.2
Reiser, G.3
-
34
-
-
0036210851
-
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders
-
11893780 1:CAS:528:DC%2BD38XisVKmsr4%3D
-
Ferdinandusse S, Rusch H, van Lint A, Dacremont G, Wanders R, Vreken P. Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. J Lipid Res. 2002;43(3):438-44.
-
(2002)
J Lipid Res
, vol.43
, Issue.3
, pp. 438-444
-
-
Ferdinandusse, S.1
Rusch, H.2
Van Lint, A.3
Dacremont, G.4
Wanders, R.5
Vreken, P.6
-
35
-
-
78650035851
-
Neurodegeneration in d-bifunctional protein deficiency: Diagnostic clues and natural history using serial magnetic resonance imaging
-
20848092 10.1007/s00234-010-0768-4
-
Khan A, Wei X, Snyder F, Mah J, Waterham H, Wanders R. Neurodegeneration in d-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging. Neuroradiology. 2010;52(12):1163-6.
-
(2010)
Neuroradiology
, vol.52
, Issue.12
, pp. 1163-1166
-
-
Khan, A.1
Wei, X.2
Snyder, F.3
Mah, J.4
Waterham, H.5
Wanders, R.6
-
36
-
-
0034815130
-
Human metabolism of phytanic acid and pristanic acid
-
11591435 10.1016/S0163-7827(01)00011-X 1:CAS:528:DC%2BD3MXovFSju7o%3D
-
Verhoeven N, Jakobs C. Human metabolism of phytanic acid and pristanic acid. Prog Lipid Res. 2001;40(6):453-66.
-
(2001)
Prog Lipid Res
, vol.40
, Issue.6
, pp. 453-466
-
-
Verhoeven, N.1
Jakobs, C.2
-
37
-
-
4544264062
-
Mitochondrial membrane potential and aging
-
14965354 10.1111/j.1474-9728.2003.00079.x 1:CAS:528:DC%2BD2cXhsFKiu7w%3D
-
Nicholls DG. Mitochondrial membrane potential and aging. Aging Cell. 2004;3(1):35-40. Neuroprotesao
-
(2004)
Aging Cell
, vol.3
, Issue.1
, pp. 35-40
-
-
Nicholls, D.G.1
|