| 1 | ABCD1, ALD
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| Mitochondrial dysfunction and oxidative damage cooperatively fuel axonal degeneration in X-linked adrenoleukodystrophy.
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| Fourcade S, López-Erauskin J, Ruiz M, Ferrer I, Pujol A.
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| Biochimie iochimie. 2013 Sep 24. doi:pii: S0300-9084(13)00326-X. 10.1016/j.biochi.2013.09.012. [Epub ahead of print]
2013
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| 2 | ABCD1, ALD
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| Glutathione imbalance in patients with X-linked adrenoleukodystrophy.
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| Petrillo S, Piemonte F, Pastore A, Tozzi G, Aiello C, Pujol A, Cappa M, Bertini E.
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| Mol Genet Metab 109(4):366-70. doi: 10.1016/j.ymgme.2013.05.009. Epub 2013 May 22.
2013
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| 3 | ABCD1, ALD
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| Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.
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| Wiesinger C, Kunze M, Regelsberger G, Forss-Petter S, Berger J.
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| J Biol Chem 288(26):19269-79. doi: 10.1074/jbc.M112.445445. Epub 2013 May 13.
2013
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| 4 | ABCD1, ALD
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| Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy.
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| López-Erauskin J, Galino J, Ruiz M, Cuezva JM, Fabregat I, Cacabelos D, Boada J, Martínez J, Ferrer I, Pamplona R, Villarroya F, Portero-Otín M, Fourcade S, Pujol A.
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| Hum Mol Genet 22(16):3296-305. doi: 10.1093/hmg/ddt186. Epub 2013 Apr 20.
2013
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| 5 | ABCD1, ALD
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| Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.
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| Kumar N, Taneja KK, Kalra V, Behari M, Aneja S, Bansal SK.
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| PLoS One 6(9):e25094. doi: 10.1371/journal.pone.0025094. Epub 2011 Sep 22.
2011
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| 6 | ABCD1, ALD
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| Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation.
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| van Roermund CW, Visser WF, Ijlst L, Waterham HR, Wanders RJ.
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| Biochim Biophys Acta 1811(3):148-52. doi: 10.1016/j.bbalip.2010.11.010. Epub 2010 Dec 8.
2011
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| 7 | ABCD1, ALD
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| Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy.
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| Kumar N, Taneja KK, Kumar A, Nayar D, Taneja B, Aneja S, Behari M, Kalra V, Bansal SK.
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| J Genet 89(4):473-7. No abstract available.
2010
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| 8 | ABCD1, ALD
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| Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation.
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| Li JY, Hsu CC, Tsai CR.
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| J Neurol Sci 290(1-2):163-5. doi: 10.1016/j.jns.2009.12.002. Epub 2009 Dec 29.
2010
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| 9 | ALD
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| Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.
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| Fourcade S, Lpez-Erauskin J, Galino J, Duval C, Naudi A, Jove M, Kemp S, Villarroya F, Ferrer I, Pamplona R, Portero-Otin M, Pujol A.
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| Hum Mol Genet 17(12):1762-73. Epub 2008 Mar 14. 2008
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| 10 | ABCD1, ALD
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| Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy.
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| Wang Z, Ke L, Yan A, Zhu Z, Lan F.
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| Clin Chem Lab Med 46(12):1702-6.
2008
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| 11 | ALD, ABCD1
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| X-linked adrenoleukodystrophy.
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| Moser HW, Mahmood A, Raymond GV.
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| Nat Clin Pract Neurol 3(3):140-51. Review. 2007
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| 12 | ABCD1, ALD
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| A novel ABCD1 gene mutation in a Chinese-Taiwanese patient with adrenomyeloneuropathy.
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| Liu YT, Lin KH, Soong BW, Liao KK, Lin KP.
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| Pediatr Neurol 36(5):348-50.
2007
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| 13 | ABCD1, ALD
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| Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
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| Takahashi N, Morita M, Maeda T, Harayama Y, Shimozawa N, Suzuki Y, Furuya H, Sato R, Kashiwayama Y, Imanaka T.
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| J Neurochem 101(6):1632-43.
2007
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| 14 | ABCD1, ALD
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| ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.
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| Pan H, Xiong H, Wu Y, Zhang YH, Bao XH, Jiang YW, Wu XR.
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| Pediatr Neurol 33(2):114-20. 2005
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| 15 | ABCD1, ALD
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| Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.
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| Dionne A, Brunet D, McCampbell A, Dupre N.
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| Can J Neurol Sci 32(2):261-3. 2005
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| 16 | ALD
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| Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.
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| Kemp S, Valianpour F, Denis S, Ofman R, Sanders RJ, Mooyer P, Barth PG, Wanders RJ.
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| Mol Genet Metab 84(2):144-151. 2005
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| 17 | ABCD1, ALD
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| X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.
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| Coll M, Palau N, Camps C, Ruiz M, Pampols T, Giros M.
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| Clin Genet 67(5):418-24. 2005
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| 18 | ALD, ABCD1
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| Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency.
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| Oezen I, Rossmanith W, Forss-Petter S, Kemp S, Voigtlander T, Moser-Thier K, Wanders RJ, Bittner RE, Berger J.
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| Hum Mol Genet 14(9):1127-37. Epub 2005 Mar 16. 2005
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| 19 | ACSBG1, ABCD1, ABCD4, ALD
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| Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
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| Asheuer M, Bieche I, Laurendeau I, Moser A, Hainque B, Vidaud M, Aubourg P.
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| Hum Mol Genet 14(10):1293-303. Epub 2005 Mar 30. 2005
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| 20 | ALD, ABCD1, SLC27A2, ACSBG1
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| X-linked adrenoleukodystrophy: role of very long-chain acyl-CoA synthetases.
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| Jia Z, Pei Z, Li Y, Wei L, Smith KD, Watkins PA.
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| Mol Genet Metab 83(1-2):117-27. 2004
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| 21 | ABCD1, ABCD2, ALD
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| Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.
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| Pujol A, Ferrer I, Camps C, Metzger E, Hindelang C, Callizot N, Ruiz M, Pampols T, Giros M, Mandel JL.
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| Hum Mol Genet 13(23):2997-3006. Epub 2004 Oct 15. 2004
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| 22 | ALD
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| MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy.
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| Fatemi A, Barker PB, Ulug AM, Nagae-Poetscher LM, Beauchamp NJ, Moser AB, Raymond GV, Moser HW, Naidu S.
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| Neurology 60(8):1301-7. 2003
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| 23 | ABCD1, ALD, BCAP31
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| Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
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| 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.
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| Am J Hum Genet 70(6):1520-31. 2002
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| 24 | ALD, ABCD1
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| ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
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| Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW.
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| Hum Mutat 18(6):499-515. Review. 2001
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| 25 | ABCD1, ALD
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| X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
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| Smith KD, et al.
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| Neurochem Res 24(4):521-35. Review. 1999
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| 26 | ABCD1, ALD
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| A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration.
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| Dunne E, et al.
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| Ann Neurol 45(5):652-5. 1999
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| 27 | ALD
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| Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.
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| Braiterman LT, et al.
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| Hum Mol Genet 7 : 239-247. 1998
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| 28 | ABCD1, ABCD3, ALD
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| Localization of nervonic acid beta-oxidation in human and rodent peroxisomes : impaired oxidation in Zellweger syndrome and X-linked adrenoleukodystrophy.
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| Sandhir R, Khan M, Chahal A, Singh I.
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| J Lipid Res 39 : 2161-2171. 1998
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| 29 | ABCD1, ALD
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| Novel missense and frameshift mutations in the adrenoleukodystrophy gene.
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| Ueyama H, et al.
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| Jpn J Hum Genet 41 : 407-411. 1996
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| 30 | ABCD1, ALD
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| Two intronic mutations in the adrenoleukodystrophy gene.
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| Kemp S, Ligtenberg MJ, van Geel BM, Barth PG, Sarde CO, van Oost BA, Bolhuis PA.
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| Hum Mutat 6(3):272-3. 1995
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| 31 | ABCD1, ALD
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| Identification of a new frameshift mutation (1801delAG) in the ALD gene.
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| Barcelo A, et al.
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| Hum Mol Genet 3 : 1889-1890. 1994
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| 32 | ABCD1, ALD
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| A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy.
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| Matsumoto T, et al.
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| Jpn J Hum Genet 39 : 345-351. 1994
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| 33 | ABCD1, ALD
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| Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.
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| Cartier N, et al.
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| Hum Mol Genet 2 : 1949-1951. 1993
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| 34 | ALD, RGCP@
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| A major chromosomal rearrangement in the Xq28 red/green color pigment gene region in a patient with adrenoleukodystrophy.
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| Feil R, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2063. 1991
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| 35 | ALD
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| The red-green visual pigment gene region in adrenoleukodystrophy.
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| Aubourg P, et al.
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| Am J Hum Genet 46 : 459-469. 1990
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| 36 | ALD
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| Linkage of DNA markers at Xq28 to adrenoleukodrystrophy and adrenomyeloneuropathy present within the same family.
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| Willems PJ, et al.
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| Arch Neurol 47 : 665-669. 1990
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| 37 | ALD
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| Genomic walking around the color vision pigment genes on Xq28 and search for deletions in adrenoleukodystrophy patients.
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| Feil RP, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 998. 1989
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| 38 | ALD, DXS52
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| Tight linkage between adrenoleukodystrophy and DXS52.
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| van Oost BA, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 708. 1987
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| 39 | ALD
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| Lignoceroyl-CoASH ligase: enzyme defect in fatty acid beta-oxidationsystem in X-linked childhood adrenoleukodystrophy.
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| Hashmi M, et al.
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| FEBS Lett 196 : 247-250. 1986
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| 40 | ALD
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| First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe.
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| Bou J, et al.
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| Hum Genet 69 : 272-274. 1985
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| 41 | ALD
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| Adrenoleukodystrophy: evidence for X linkage, inactivation and selection favoring the mutant allele in heterozygous cells.
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| Migeon BR, et al.
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| Proc Natl Acad Sci U S A 78 : 5066-5070. 1981
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| 42 | ALD
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| Adrenoleukodystrophy and adrenomyeloneuropathy associated with partial adrenal insufficiency in three generations of a kindred.
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| Davis LE, et al.
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| Am J Med 66 : 342-347. 1970
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| 43 | ALD
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| Morbus Addison mit Hirnsklerose im Kindesalter. Ein hereditres Syndrom mit X-chromosomaler Vererbung?
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| Fanconi A, et al.
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| Helv Paediatr Acta 18 : 480-501. 1963
|