743 related articles for article (PubMed ID: 22483867)
1. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
Kemp S; Berger J; Aubourg P
Biochim Biophys Acta; 2012 Sep; 1822(9):1465-74. PubMed ID: 22483867
[TBL] [Abstract][Full Text] [Related]
2. Biochemical aspects of X-linked adrenoleukodystrophy.
Kemp S; Wanders R
Brain Pathol; 2010 Jul; 20(4):831-7. PubMed ID: 20626744
[TBL] [Abstract][Full Text] [Related]
3. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
Corzo D; Gibson W; Johnson K; Mitchell G; LePage G; Cox GF; Casey R; Zeiss C; Tyson H; Cutting GR; Raymond GV; Smith KD; Watkins PA; Moser AB; Moser HW; Steinberg SJ
Am J Hum Genet; 2002 Jun; 70(6):1520-31. PubMed ID: 11992258
[TBL] [Abstract][Full Text] [Related]
4. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Kemp S; Pujol A; Waterham HR; van Geel BM; Boehm CD; Raymond GV; Cutting GR; Wanders RJ; Moser HW
Hum Mutat; 2001 Dec; 18(6):499-515. PubMed ID: 11748843
[TBL] [Abstract][Full Text] [Related]
5. ABCD1 deletion-induced mitochondrial dysfunction is corrected by SAHA: implication for adrenoleukodystrophy.
Baarine M; Beeson C; Singh A; Singh I
J Neurochem; 2015 May; 133(3):380-96. PubMed ID: 25393703
[TBL] [Abstract][Full Text] [Related]
6. Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.
Kallabi F; Ellouz E; Tabebi M; Ben Salah G; Kaabechi N; Keskes L; Triki C; Kamoun H
Clin Chim Acta; 2016 Jan; 453():141-6. PubMed ID: 26686776
[TBL] [Abstract][Full Text] [Related]
7. X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment.
Kemp S; Wanders RJ
Mol Genet Metab; 2007 Mar; 90(3):268-76. PubMed ID: 17092750
[TBL] [Abstract][Full Text] [Related]
8. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
Asheuer M; Bieche I; Laurendeau I; Moser A; Hainque B; Vidaud M; Aubourg P
Hum Mol Genet; 2005 May; 14(10):1293-303. PubMed ID: 15800013
[TBL] [Abstract][Full Text] [Related]
9. ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN.
O'Neill GN; Aoki M; Brown RH
Neurology; 2001 Dec; 57(11):1956-62. PubMed ID: 11739809
[TBL] [Abstract][Full Text] [Related]
10. The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.
Ofman R; Dijkstra IM; van Roermund CW; Burger N; Turkenburg M; van Cruchten A; van Engen CE; Wanders RJ; Kemp S
EMBO Mol Med; 2010 Mar; 2(3):90-7. PubMed ID: 20166112
[TBL] [Abstract][Full Text] [Related]
11. Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.
Wiesinger C; Kunze M; Regelsberger G; Forss-Petter S; Berger J
J Biol Chem; 2013 Jun; 288(26):19269-79. PubMed ID: 23671276
[TBL] [Abstract][Full Text] [Related]
12. [X-linked adrenoleukodystrophy].
Aubourg P
Ann Endocrinol (Paris); 2007 Dec; 68(6):403-11. PubMed ID: 17532287
[TBL] [Abstract][Full Text] [Related]
13. [Screening for carrier and prenatal diagnosis of X-linked adrenoleukodystrophy].
Wang AH; Bao XH; Xiong H; Pan H; Wu Y; Zhang YH; Shi CY; Qin J; Wu XR
Zhonghua Er Ke Za Zhi; 2005 May; 43(5):345-9. PubMed ID: 15924749
[TBL] [Abstract][Full Text] [Related]
14. Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions.
Kruska N; Schönfeld P; Pujol A; Reiser G
Biochim Biophys Acta; 2015 May; 1852(5):925-36. PubMed ID: 25583114
[TBL] [Abstract][Full Text] [Related]
15. Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice.
Forss-Petter S; Werner H; Berger J; Lassmann H; Molzer B; Schwab MH; Bernheimer H; Zimmermann F; Nave KA
J Neurosci Res; 1997 Dec; 50(5):829-43. PubMed ID: 9418970
[TBL] [Abstract][Full Text] [Related]
16. Metformin-induced mitochondrial function and ABCD2 up-regulation in X-linked adrenoleukodystrophy involves AMP-activated protein kinase.
Singh J; Olle B; Suhail H; Felicella MM; Giri S
J Neurochem; 2016 Jul; 138(1):86-100. PubMed ID: 26849413
[TBL] [Abstract][Full Text] [Related]
17. HDAC inhibitor SAHA normalizes the levels of VLCFAs in human skin fibroblasts from X-ALD patients and downregulates the expression of proinflammatory cytokines in Abcd1/2-silenced mouse astrocytes.
Singh J; Khan M; Singh I
J Lipid Res; 2011 Nov; 52(11):2056-69. PubMed ID: 21891797
[TBL] [Abstract][Full Text] [Related]
18. Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.
Engelen M; Schackmann MJ; Ofman R; Sanders RJ; Dijkstra IM; Houten SM; Fourcade S; Pujol A; Poll-The BT; Wanders RJ; Kemp S
J Inherit Metab Dis; 2012 Nov; 35(6):1137-45. PubMed ID: 22447153
[TBL] [Abstract][Full Text] [Related]
19. Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy.
McGuinness MC; Lu JF; Zhang HP; Dong GX; Heinzer AK; Watkins PA; Powers J; Smith KD
Mol Cell Biol; 2003 Jan; 23(2):744-53. PubMed ID: 12509471
[TBL] [Abstract][Full Text] [Related]
20. [Adrenoleukodystrophy: molecular pathogenesis and development of therapeutic agents].
Morita M
Yakugaku Zasshi; 2007 Jul; 127(7):1059-64. PubMed ID: 17603264
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
