-
2
-
-
0030860131
-
Adrenoleukodystrophy: Phenotype, genetics, pathogenesis and therapy
-
Moser HW: Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 120 (Pt 8), 1485-1508 (1997).
-
(1997)
Brain
, vol.120
, Issue.PART 8
, pp. 1485-1508
-
-
Moser, H.W.1
-
3
-
-
0023903589
-
Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro
-
Whitcomb RW, Linehan WM, Knazek RA: Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro. J. Clin. Invest. 81, 185-188 (1988).
-
(1988)
J. Clin. Invest
, vol.81
, pp. 185-188
-
-
Whitcomb, R.W.1
Linehan, W.M.2
Knazek, R.A.3
-
4
-
-
0015911031
-
The adrenal cortex in adreno-leukodystrophy
-
Powers JM, Schaumburg HH: The adrenal cortex in adreno-leukodystrophy. Arch. Pathol. 96, 305-310 (1973).
-
(1973)
Arch. Pathol
, vol.96
, pp. 305-310
-
-
Powers, J.M.1
Schaumburg, H.H.2
-
5
-
-
0017265264
-
Fatty acid abnormality in adrenoleukodystrophy
-
Igarashi M, Schaumburg HH, Powers J, Kishmoto Y, Kolodny E, Suzuki K: Fatty acid abnormality in adrenoleukodystrophy. J. Neurochem. 26, 851-860 (1976).
-
(1976)
J. Neurochem
, vol.26
, pp. 851-860
-
-
Igarashi, M.1
Schaumburg, H.H.2
Powers, J.3
Kishmoto, Y.4
Kolodny, E.5
Suzuki, K.6
-
6
-
-
0024601068
-
Adrenoleukodystrophy: Impaired oxidation of fatty acids due to peroxisomal lignoceroyl-CoA ligase deficiency
-
Lazo O, Contreras M, Bhushan A, Stanley W, Singh I: Adrenoleukodystrophy: impaired oxidation of fatty acids due to peroxisomal lignoceroyl-CoA ligase deficiency. Arch. Biochem. Biophys. 270, 722-728 (1989).
-
(1989)
Arch. Biochem. Biophys
, vol.270
, pp. 722-728
-
-
Lazo, O.1
Contreras, M.2
Bhushan, A.3
Stanley, W.4
Singh, I.5
-
7
-
-
0001112876
-
Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy
-
Lazo O, Contreras M, Hashmi M, Stanley W, Irazu C, Singh I: Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy. Proc. Natl Acad. Sci. USA 85, 7647-7651 (1988).
-
(1988)
Proc. Natl Acad. Sci. USA
, vol.85
, pp. 7647-7651
-
-
Lazo, O.1
Contreras, M.2
Hashmi, M.3
Stanley, W.4
Irazu, C.5
Singh, I.6
-
8
-
-
0026770745
-
Transport of fatty acids into human and rat peroxisomes. Differential transport of palmitic and lignoceric acids and its implication to X-adrenoleukodystrophy
-
Singh I, Lazo O, Dhaunsi GS, Contreras M: Transport of fatty acids into human and rat peroxisomes. Differential transport of palmitic and lignoceric acids and its implication to X-adrenoleukodystrophy. J. Biol. Chem. 267, 13306-13313 (1992).
-
(1992)
J. Biol. Chem
, vol.267
, pp. 13306-13313
-
-
Singh, I.1
Lazo, O.2
Dhaunsi, G.S.3
Contreras, M.4
-
9
-
-
0023886918
-
Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids
-
Wanders RJ, van Roermund CW, van Wijland MJ et al.: Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids. Biochem. Biophys. Res. Commun. 153, 618-624 (1988).
-
(1988)
Biochem. Biophys. Res. Commun
, vol.153
, pp. 618-624
-
-
Wanders, R.J.1
van Roermund, C.W.2
van Wijland, M.J.3
-
10
-
-
0022551325
-
Lignoceroyl-CoASH ligase: Enzyme defect in fatty acid β-oxidation system in X-linked childhood adrenoleukodystrophy
-
Hashmi M, Stanley W, Singh I: Lignoceroyl-CoASH ligase: enzyme defect in fatty acid β-oxidation system in X-linked childhood adrenoleukodystrophy. FEBS Lett. 196, 247-250 (1986).
-
(1986)
FEBS Lett
, vol.196
, pp. 247-250
-
-
Hashmi, M.1
Stanley, W.2
Singh, I.3
-
11
-
-
0027532282
-
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
-
Mosser J, Douar AM, Sarde CO et al.: Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361, 726-730 (1993).
-
(1993)
Nature
, vol.361
, pp. 726-730
-
-
Mosser, J.1
Douar, A.M.2
Sarde, C.O.3
-
12
-
-
0034953105
-
The human ATP-binding cassette (ABC) transporter superfamily
-
Dean M, Hamon Y, Chimini G: The human ATP-binding cassette (ABC) transporter superfamily. J. Lipid Res. 42, 1007-1017 (2001).
-
(2001)
J. Lipid Res
, vol.42
, pp. 1007-1017
-
-
Dean, M.1
Hamon, Y.2
Chimini, G.3
-
13
-
-
57349105177
-
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters
-
van Roermund CW, Visser WF, Ijlst L et al.: The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J. 22 (12), 4201-4208 (2008).
-
(2008)
FASEB J
, vol.22
, Issue.12
, pp. 4201-4208
-
-
van Roermund, C.W.1
Visser, W.F.2
Ijlst, L.3
-
14
-
-
0032869224
-
Role of very-long-chain acyl-coenzyme A synthetase in X-linked adrenoleukodystrophy
-
Steinberg SJ, Kemp S, Braiterman LT, Watkins PA: Role of very-long-chain acyl-coenzyme A synthetase in X-linked adrenoleukodystrophy. Ann. Neurol. 46, 409-412 (1999).
-
(1999)
Ann. Neurol
, vol.46
, pp. 409-412
-
-
Steinberg, S.J.1
Kemp, S.2
Braiterman, L.T.3
Watkins, P.A.4
-
15
-
-
35348876033
-
Lorenzo's oil' therapy for X-linked adrenoleukodystrophy: Rationale and current assessment of efficacy
-
Moser HW, Moser AB, Hollandsworth K, Brereton NH, Raymond GV: 'Lorenzo's oil' therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy. J. Mol. Neurosci. 33, 105-113 (2007).
-
(2007)
J. Mol. Neurosci
, vol.33
, pp. 105-113
-
-
Moser, H.W.1
Moser, A.B.2
Hollandsworth, K.3
Brereton, N.H.4
Raymond, G.V.5
-
16
-
-
0343239065
-
Lovastatin therapy for X-linked adrenoleukodystrophy: Clinical and biochemical observations on 12 patients
-
Pai GS, Khan M, Barbosa E et al.: Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients. Mol. Genet. Metab. 69, 312-322 (2000).
-
(2000)
Mol. Genet. Metab
, vol.69
, pp. 312-322
-
-
Pai, G.S.1
Khan, M.2
Barbosa, E.3
-
17
-
-
0025329012
-
Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleuko-dystrophy by bone marrow transplantation
-
Aubourg P, Blanche S, Jambaque I et al.: Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleuko-dystrophy by bone marrow transplantation. N. Engl. J. Med. 322, 1860-1866 (1990).
-
(1990)
N. Engl. J. Med
, vol.322
, pp. 1860-1866
-
-
Aubourg, P.1
Blanche, S.2
Jambaque, I.3
-
18
-
-
0034718378
-
Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy
-
Shapiro E, Krivit W, Lockman L et al.: Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Lancet 356, 713-718 (2000).
-
(2000)
Lancet
, vol.356
, pp. 713-718
-
-
Shapiro, E.1
Krivit, W.2
Lockman, L.3
-
19
-
-
3242762263
-
Cerebral X-linked adrenoleukodystrophy: The international hematopoietic cell transplantation experience from 1982 to 1999
-
Peters C, Charnas LR, Tan Y et al.: Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 104, 881-888 (2004).
-
(2004)
Blood
, vol.104
, pp. 881-888
-
-
Peters, C.1
Charnas, L.R.2
Tan, Y.3
-
20
-
-
34249035093
-
Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy
-
Schonberger S, Roerig P, Schneider DT, Reifenberger G, Gobel U, Gartner J: Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy. Arch. Neurol. 64, 651-657 (2007).
-
(2007)
Arch. Neurol
, vol.64
, pp. 651-657
-
-
Schonberger, S.1
Roerig, P.2
Schneider, D.T.3
Reifenberger, G.4
Gobel, U.5
Gartner, J.6
-
21
-
-
34447539971
-
Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: A comparison study
-
Mahmood A, Raymond GV, Dubey P, Peters C, Moser HW: Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study. Lancet Neurol. 6, 687-692 (2007).
-
(2007)
Lancet Neurol
, vol.6
, pp. 687-692
-
-
Mahmood, A.1
Raymond, G.V.2
Dubey, P.3
Peters, C.4
Moser, H.W.5
-
22
-
-
0028124904
-
Adrenoleukodystrophy: A scoring method for brain MR observations
-
Loes DJ, Hite S, Moser H et al.: Adrenoleukodystrophy: a scoring method for brain MR observations. Am. J. Neuroradiol. 15, 1761-1766 (1994).
-
(1994)
Am. J. Neuroradiol
, vol.15
, pp. 1761-1766
-
-
Loes, D.J.1
Hite, S.2
Moser, H.3
-
23
-
-
0021211765
-
Bone marrow transplant in adrenoleukodystrophy
-
Moser HW, Tutschka PJ, Brown FR 3rd et al.: Bone marrow transplant in adrenoleukodystrophy. Neurology 34, 1410-1417 (1984).
-
(1984)
Neurology
, vol.34
, pp. 1410-1417
-
-
Moser, H.W.1
Tutschka, P.J.2
Brown 3rd, F.R.3
-
24
-
-
67249155420
-
Newborn screening for X-linked adrenoleukodystrophy on the horizon
-
Moser AB: Newborn screening for X-linked adrenoleukodystrophy on the horizon. Pediatric News 42, 32-33 (2008).
-
(2008)
Pediatric News
-
-
Moser, A.B.1
-
25
-
-
27144476500
-
Long-term effect of bone marrow transplantation in adult-onset adrenoleukodystrophy
-
Hitomi T, Mezaki T, Tomimoto H et al.: Long-term effect of bone marrow transplantation in adult-onset adrenoleukodystrophy. Eur. J. Neurol. 12, 807-810 (2005).
-
(2005)
Eur. J. Neurol
, vol.12
, pp. 807-810
-
-
Hitomi, T.1
Mezaki, T.2
Tomimoto, H.3
-
26
-
-
39149145509
-
Haematopoietic stem-cell transplant for adult cerebral adrenoleukodystrophy
-
Fitzpatrick AS, Loughrey CM, Johnston P et al.: Haematopoietic stem-cell transplant for adult cerebral adrenoleukodystrophy. Eur. J. Neurol. 15, E21-E22 (2008).
-
(2008)
Eur. J. Neurol
, vol.15
-
-
Fitzpatrick, A.S.1
Loughrey, C.M.2
Johnston, P.3
-
27
-
-
28644440640
-
Treatment of X-linked childhood cerebral adrenoleukodystrophy by the use of an allogeneic stem cell transplantation with reduced intensity conditioning regimen
-
Resnick IB, Abdul Hai A, Shapira MY et al.: Treatment of X-linked childhood cerebral adrenoleukodystrophy by the use of an allogeneic stem cell transplantation with reduced intensity conditioning regimen. Clin. Transplant 19, 840-847 (2005).
-
(2005)
Clin. Transplant
, vol.19
, pp. 840-847
-
-
Resnick, I.B.1
Abdul Hai, A.2
Shapira, M.Y.3
-
28
-
-
58149301554
-
Successful allogeneic unrelated bone marrow transplantation using reduced-intensity conditioning for the treatment of X-linked adrenoleukodystrophy in a one-yr-old boy
-
Okamura K, Watanabe T, Onishi T et al.: Successful allogeneic unrelated bone marrow transplantation using reduced-intensity conditioning for the treatment of X-linked adrenoleukodystrophy in a one-yr-old boy. Pediatr. Transplant 13(1), 130-133 (2008).
-
(2008)
Pediatr. Transplant
, vol.13
, Issue.1
, pp. 130-133
-
-
Okamura, K.1
Watanabe, T.2
Onishi, T.3
-
29
-
-
31344470473
-
Results of the Cord Blood Transplantation Study (COBLT): Outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases
-
Martin PL, Carter SL, Kernan NA et al.: Results of the Cord Blood Transplantation Study (COBLT): outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases. Biol. Blood Marrow Transplant 12, 184-194 (2006).
-
(2006)
Biol. Blood Marrow Transplant
, vol.12
, pp. 184-194
-
-
Martin, P.L.1
Carter, S.L.2
Kernan, N.A.3
-
30
-
-
0029094333
-
Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy
-
Ho JK, Moser H, Kishimoto Y, Hamilton JA: Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy. J. Clin. Invest. 96, 1455-1463 (1995).
-
(1995)
J. Clin. Invest
, vol.96
, pp. 1455-1463
-
-
Ho, J.K.1
Moser, H.2
Kishimoto, Y.3
Hamilton, J.A.4
-
31
-
-
0020639592
-
Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy
-
Knazek RA, Rizzo WB, Schulman JD, Dave JR: Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy. J. Clin. Invest. 72, 245-248 (1983).
-
(1983)
J. Clin. Invest
, vol.72
, pp. 245-248
-
-
Knazek, R.A.1
Rizzo, W.B.2
Schulman, J.D.3
Dave, J.R.4
-
32
-
-
36349037255
-
Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency
-
Dumser M, Bauer J, Lassmann H, Berger J, Forss-Petter S: Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency. Acta Neuropathol. 114, 573-586 (2007).
-
(2007)
Acta Neuropathol
, vol.114
, pp. 573-586
-
-
Dumser, M.1
Bauer, J.2
Lassmann, H.3
Berger, J.4
Forss-Petter, S.5
-
33
-
-
23644441748
-
Myelin-associated glycoprotein and complementary axonal ligands, gangliosides, mediate axon stability in the CNS and PNS: Neuropathology and behavioral deficits in single- and double-null mice
-
Pan B, Fromholt SE, Hess EJ et al.: Myelin-associated glycoprotein and complementary axonal ligands, gangliosides, mediate axon stability in the CNS and PNS: neuropathology and behavioral deficits in single- and double-null mice. Exp. Neurol. 195, 208-217 (2005).
-
(2005)
Exp. Neurol
, vol.195
, pp. 208-217
-
-
Pan, B.1
Fromholt, S.E.2
Hess, E.J.3
-
34
-
-
34547527078
-
Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes
-
Kassmann CM, Lappe-Siefke C, Baes M et al.: Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes. Nat. Genet. 39, 969-976 (2007).
-
(2007)
Nat. Genet
, vol.39
, pp. 969-976
-
-
Kassmann, C.M.1
Lappe-Siefke, C.2
Baes, M.3
-
35
-
-
16944361876
-
A mouse model for Zellweger syndrome
-
Baes M, Gressens P, Baumgart E et al.: A mouse model for Zellweger syndrome. Nat. Genet. 17, 49-57 (1997).
-
(1997)
Nat. Genet
, vol.17
, pp. 49-57
-
-
Baes, M.1
Gressens, P.2
Baumgart, E.3
-
36
-
-
36049050412
-
Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy
-
Deon M, Sitta A, Barschak AG et al.: Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy. Int. J. Dev. Neurosci. 25, 441-444 (2007).
-
(2007)
Int. J. Dev. Neurosci
, vol.25
, pp. 441-444
-
-
Deon, M.1
Sitta, A.2
Barschak, A.G.3
-
37
-
-
12144288732
-
Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy
-
Vargas CR, Wajner M, Sirtori LR et al.: Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy. Biochim. Biophys. Acta 1688, 26-32 (2004).
-
(2004)
Biochim. Biophys. Acta
, vol.1688
, pp. 26-32
-
-
Vargas, C.R.1
Wajner, M.2
Sirtori, L.R.3
-
38
-
-
38749140623
-
Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy
-
Deon M, Sitta A, Barschak AG et al.: Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy. J. Neurol. Sci. 266, 79-83 (2008).
-
(2008)
J. Neurol. Sci
, vol.266
, pp. 79-83
-
-
Deon, M.1
Sitta, A.2
Barschak, A.G.3
-
39
-
-
44849100253
-
Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy
-
Fourcade S, Lopez-Erauskin J, Galino J et al.: Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy. Hum. Mol. Genet. 17(12), 1762-1773 (2008).
-
(2008)
Hum. Mol. Genet
, vol.17
, Issue.12
, pp. 1762-1773
-
-
Fourcade, S.1
Lopez-Erauskin, J.2
Galino, J.3
-
40
-
-
63449100325
-
Silencing of Abcd1 and Abcd2 genes sensitizes astrocytes for inflammation: Implication for X-adrenoleukodystrophy
-
Singh J, Khan M, Singh I: Silencing of Abcd1 and Abcd2 genes sensitizes astrocytes for inflammation: implication for X-adrenoleukodystrophy. J. Lipid Res. 50(1), 135-147 (2008).
-
(2008)
J. Lipid Res
, vol.50
, Issue.1
, pp. 135-147
-
-
Singh, J.1
Khan, M.2
Singh, I.3
-
41
-
-
33847669358
-
The role of peroxisomal ABC transporters in the mouse adrenal gland: The loss of Abcd2 (ALDR), not Abcd1 (ALD), causes oxidative damage
-
Lu JF, Barron-Casella E, Deering R et al.: The role of peroxisomal ABC transporters in the mouse adrenal gland: the loss of Abcd2 (ALDR), not Abcd1 (ALD), causes oxidative damage. Lab. Invest. 87, 261-272 (2007).
-
(2007)
Lab. Invest
, vol.87
, pp. 261-272
-
-
Lu, J.F.1
Barron-Casella, E.2
Deering, R.3
-
42
-
-
45149113087
-
CD36 mediates both cellular uptake of very long chain fatty acids and their intestinal absorption in mice
-
Drover VA, Nguyen DV, Bastie CC et al.: CD36 mediates both cellular uptake of very long chain fatty acids and their intestinal absorption in mice. J. Biol. Chem. 283, 13108-13115 (2008).
-
(2008)
J. Biol. Chem
, vol.283
, pp. 13108-13115
-
-
Drover, V.A.1
Nguyen, D.V.2
Bastie, C.C.3
-
43
-
-
0032539803
-
Abnormality in catalase import into peroxisomes leads to severe neurological disorder
-
Sheikh FG, Pahan K, Khan M, Barbosa E, Singh I: Abnormality in catalase import into peroxisomes leads to severe neurological disorder. Proc. Natl Acad. Sci. USA 95, 2961-2966 (1998)
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 2961-2966
-
-
Sheikh, F.G.1
Pahan, K.2
Khan, M.3
Barbosa, E.4
Singh, I.5
|