-
2
-
-
0002277381
-
X-Linked Adrenoleukodystrophy
-
H.W. Moser K.D. Smith P.A. Watkins J. Powers A.B. Moser X-Linked Adrenoleukodystrophy C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The Metabolic and Molecular Bases of Inherited Disease 2001 McGraw Hill New York 3257 3301
-
(2001)
, pp. 3257-3301
-
-
Moser, H.W.1
Smith, K.D.2
Watkins, P.A.3
Powers, J.4
Moser, A.B.5
-
3
-
-
0027532282
-
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
-
J. Mosser A.M. Douar C.O. Sarde P. Kioschis R. Feil H. Moser A.M. Poustka J.L. Mandel P. Aubourg Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters Nature 361 1993 726
-
(1993)
Nature
, vol.361
, pp. 726
-
-
Mosser, J.1
Douar, A.M.2
Sarde, C.O.3
Kioschis, P.4
Feil, R.5
Moser, H.6
Poustka, A.M.7
Mandel, J.L.8
Aubourg, P.9
-
4
-
-
0028006093
-
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
-
J. Mosser Y. Lutz M.E. Stoeckel C.O. Sarde C. Kretz A.M. Douar J. Lopez P. Aubourg J.L. Mandel The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein Hum. Mol. Genet. 3 1994 265
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 265
-
-
Mosser, J.1
Lutz, Y.2
Stoeckel, M.E.3
Sarde, C.O.4
Kretz, C.5
Douar, A.M.6
Lopez, J.7
Aubourg, P.8
Mandel, J.L.9
-
5
-
-
0019789966
-
Adrenoleukodystrophy: impaired oxidation of long chain fatty acids in cultured skin fibroblasts an adrenal cortex
-
I. Singh H.W. Moser A.B. Moser Y. Kishimoto Adrenoleukodystrophy: impaired oxidation of long chain fatty acids in cultured skin fibroblasts an adrenal cortex Biochem. Biophys. Res. Commun. 102 1981 1223
-
(1981)
Biochem. Biophys. Res. Commun.
, vol.102
, pp. 1223
-
-
Singh, I.1
Moser, H.W.2
Moser, A.B.3
Kishimoto, Y.4
-
6
-
-
0030034602
-
A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern
-
G. Lombard-Platet S. Savary C.O. Sarde J.L. Mandel G. Chimini A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern Proc. Natl. Acad. Sci. U. S. A. 93 1996 1265
-
(1996)
Proc. Natl. Acad. Sci. U. S. A.
, vol.93
, pp. 1265
-
-
Lombard-Platet, G.1
Savary, S.2
Sarde, C.O.3
Mandel, J.L.4
Chimini, G.5
-
7
-
-
0025255475
-
The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily
-
K. Kamijo S. Taketani S. Yokota T. Osumi T. Hashimoto The 70-kDa peroxisomal membrane protein is a member of the Mdr ( P -glycoprotein)-related ATP-binding protein superfamily J. Biol. Chem. 265 1990 4534
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 4534
-
-
Kamijo, K.1
Taketani, S.2
Yokota, S.3
Osumi, T.4
Hashimoto, T.5
-
9
-
-
0031730433
-
Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy
-
S. Kemp H.M. Wei J.F. Lu L.T. Braiterman M.C. McGuinness A.B. Moser P.A. Watkins K.D. Smith Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy Nat. Med. 4 1998 1261
-
(1998)
Nat. Med.
, vol.4
, pp. 1261
-
-
Kemp, S.1
Wei, H.M.2
Lu, J.F.3
Braiterman, L.T.4
McGuinness, M.C.5
Moser, A.B.6
Watkins, P.A.7
Smith, K.D.8
-
10
-
-
0032924991
-
Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy
-
A. Netik S. Forss-Petter A. Holzinger B. Molzer G. Unterrainer J. Berger Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy Hum. Mol. Genet. 8 1999 907
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 907
-
-
Netik, A.1
Forss-Petter, S.2
Holzinger, A.3
Molzer, B.4
Unterrainer, G.5
Berger, J.6
-
11
-
-
9744221106
-
Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy
-
A. Pujol I. Ferrer C. Camps E. Metzger C. Hindelang N. Callizot M. Ruiz T. Pampols M. Giros J.L. Mandel Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy Hum. Mol. Genet. 13 2004 2997
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2997
-
-
Pujol, A.1
Ferrer, I.2
Camps, C.3
Metzger, E.4
Hindelang, C.5
Callizot, N.6
Ruiz, M.7
Pampols, T.8
Giros, M.9
Mandel, J.L.10
-
12
-
-
0033569840
-
The four murine peroxisomal ABC-transporter genes differ in constitutive, inducible and developmental expression
-
J. Berger S. Albet M. Bentejac A. Netik A. Holzinger A.A. Roscher M. Bugaut S. Forss-Petter The four murine peroxisomal ABC-transporter genes differ in constitutive, inducible and developmental expression Eur. J. Biochem. 265 1999 719
-
(1999)
Eur. J. Biochem.
, vol.265
, pp. 719
-
-
Berger, J.1
Albet, S.2
Bentejac, M.3
Netik, A.4
Holzinger, A.5
Roscher, A.A.6
Bugaut, M.7
Forss-Petter, S.8
-
13
-
-
0032562653
-
Lovastatin and sodium phenylacetate normalize the levels of very long chain fatty acids in skin fibroblasts of X-adrenoleukodystrophy
-
I. Singh K. Pahan M. Khan Lovastatin and sodium phenylacetate normalize the levels of very long chain fatty acids in skin fibroblasts of X-adrenoleukodystrophy FEBS Lett. 426 1998 342
-
(1998)
FEBS Lett.
, vol.426
, pp. 342
-
-
Singh, I.1
Pahan, K.2
Khan, M.3
-
14
-
-
0037109002
-
Cholesterol regulates ABCD2 expression: implications for the therapy of X-linked adrenoleukodystrophy
-
I. Weinhofer S. Forss-Petter M. Zigman J. Berger Cholesterol regulates ABCD2 expression: implications for the therapy of X-linked adrenoleukodystrophy Hum. Mol. Genet. 11 2002 2701
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2701
-
-
Weinhofer, I.1
Forss-Petter, S.2
Zigman, M.3
Berger, J.4
-
15
-
-
0030941803
-
The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor
-
M.S. Brown J.L. Goldstein The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor Cell 89 1997 331
-
(1997)
Cell
, vol.89
, pp. 331
-
-
Brown, M.S.1
Goldstein, J.L.2
-
16
-
-
0343239065
-
Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients
-
G.S. Pai M. Khan E. Barbosa L.L. Key J.R. Craver J.K. Cure R. Betros I. Singh Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients Mol. Genet. Metab. 69 2000 312
-
(2000)
Mol. Genet. Metab.
, vol.69
, pp. 312
-
-
Pai, G.S.1
Khan, M.2
Barbosa, E.3
Key, L.L.4
Craver, J.R.5
Cure, J.K.6
Betros, R.7
Singh, I.8
-
19
-
-
0033797057
-
Lovastatin does not correct the accumulation of very long-chain fatty acids in tissues of adrenoleukodystrophy protein-deficient mice
-
T. Yamada N. Shinnoh T. Taniwaki Y. Ohyagi H. Asahara Horiuchi J. Kira Lovastatin does not correct the accumulation of very long-chain fatty acids in tissues of adrenoleukodystrophy protein-deficient mice J. Inherit. Metab. Dis. 23 2000 607
-
(2000)
J. Inherit. Metab. Dis.
, vol.23
, pp. 607
-
-
Yamada, T.1
Shinnoh, N.2
Taniwaki, T.3
Ohyagi, Y.4
Asahara, H.5
Horiuchi6
Kira, J.7
-
20
-
-
0034604630
-
Simvastatin does not normalize very long chain fatty acids in adrenoleukodystrophy mice
-
N. Cartier S. Guidoux F. Rocchiccioli P. Aubourg Simvastatin does not normalize very long chain fatty acids in adrenoleukodystrophy mice FEBS Lett. 478 2000 205
-
(2000)
FEBS Lett.
, vol.478
, pp. 205
-
-
Cartier, N.1
Guidoux, S.2
Rocchiccioli, F.3
Aubourg, P.4
-
21
-
-
26844531338
-
X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism
-
I. Weinhofer S. Forss-Petter M. Kunze M. Zigman J. Berger X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism FEBS Lett. 579 2005 5512
-
(2005)
FEBS Lett.
, vol.579
, pp. 5512
-
-
Weinhofer, I.1
Forss-Petter, S.2
Kunze, M.3
Zigman, M.4
Berger, J.5
-
22
-
-
0022186670
-
Measurement of protein using bicinchoninic acid
-
P.K. Smith R.I. Krohn G.T. Hermanson A.K. Mallia F.H. Gartner M.D. Provenzano E.K. Fujimoto N.M. Goeke B.J. Olson D.C. Klenk Measurement of protein using bicinchoninic acid Anal. Biochem. 150 1985 76
-
(1985)
Anal. Biochem.
, vol.150
, pp. 76
-
-
Smith, P.K.1
Krohn, R.I.2
Hermanson, G.T.3
Mallia, A.K.4
Gartner, F.H.5
Provenzano, M.D.6
Fujimoto, E.K.7
Goeke, N.M.8
Olson, B.J.9
Klenk, D.C.10
-
24
-
-
4644288232
-
Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid
-
S. Kemp F. Valianpour P.A. Mooyer W. Kulik R.J. Wanders Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid Clin. Chem. 50 2004 1824
-
(2004)
Clin. Chem.
, vol.50
, pp. 1824
-
-
Kemp, S.1
Valianpour, F.2
Mooyer, P.A.3
Kulik, W.4
Wanders, R.J.5
-
26
-
-
0037435395
-
Assumption-free analysis of quantitative real-time polymerase chain reaction (PCR) data
-
C. Ramakers J.M. Ruijter R.H. Deprez A.F. Moorman Assumption-free analysis of quantitative real-time polymerase chain reaction (PCR) data Neurosci. Lett. 339 2003 62
-
(2003)
Neurosci. Lett.
, vol.339
, pp. 62
-
-
Ramakers, C.1
Ruijter, J.M.2
Deprez, R.H.3
Moorman, A.F.4
-
27
-
-
0037832581
-
Recent insights into stearoyl-CoA desaturase-1
-
J.M. Ntambi M. Miyazaki Recent insights into stearoyl-CoA desaturase-1 Curr. Opin. Lipidol. 14 2003 255
-
(2003)
Curr. Opin. Lipidol.
, vol.14
, pp. 255
-
-
Ntambi, J.M.1
Miyazaki, M.2
-
28
-
-
12844267552
-
Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
-
S. Kemp F. Valianpour S. Denis R. Ofman R.J. Sanders P. Mooyer P.G. Barth R.J. Wanders Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy Mol. Genet. Metab. 84 2005 144
-
(2005)
Mol. Genet. Metab.
, vol.84
, pp. 144
-
-
Kemp, S.1
Valianpour, F.2
Denis, S.3
Ofman, R.4
Sanders, R.J.5
Mooyer, P.6
Barth, P.G.7
Wanders, R.J.8
-
29
-
-
33646018341
-
Fatty acid elongases in mammals: their regulation and roles in metabolism
-
A. Jakobsson R. Westerberg A. Jacobsson Fatty acid elongases in mammals: their regulation and roles in metabolism Prog. Lipid Res. 45 2006 237
-
(2006)
Prog. Lipid Res.
, vol.45
, pp. 237
-
-
Jakobsson, A.1
Westerberg, R.2
Jacobsson, A.3
-
30
-
-
0037219061
-
Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy
-
M.C. McGuinness J.F. Lu H.P. Zhang G.X. Dong A.K. Heinzer P.A. Watkins J. Powers K.D. Smith Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy Mol. Cell. Biol. 23 2003 744
-
(2003)
Mol. Cell. Biol.
, vol.23
, pp. 744
-
-
McGuinness, M.C.1
Lu, J.F.2
Zhang, H.P.3
Dong, G.X.4
Heinzer, A.K.5
Watkins, P.A.6
Powers, J.7
Smith, K.D.8
-
31
-
-
0023903589
-
Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro
-
R.W. Whitcomb W.M. Linehan R.A. Knazek Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro J. Clin. Invest 81 1988 185
-
(1988)
J. Clin. Invest
, vol.81
, pp. 185
-
-
Whitcomb, R.W.1
Linehan, W.M.2
Knazek, R.A.3
-
32
-
-
0029094333
-
Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy
-
J.K. Ho H. Moser Y. Kishimoto J.A. Hamilton Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy J. Clin. Invest. 96 1995 1455
-
(1995)
J. Clin. Invest.
, vol.96
, pp. 1455
-
-
Ho, J.K.1
Moser, H.2
Kishimoto, Y.3
Hamilton, J.A.4
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