| 1 | ABCD1, ABCD2, ABCD3, ABCD4
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| ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.
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| Kawaguchi K, Morita M.
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| Biomed Res Int 2016:6786245. Epub 2016 Sep 28. Review.
2016
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| 2 | ABCD1, ABCD2, ABCD3, ABCD4
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| Role of NH2-terminal hydrophobic motif in the subcellular localization of ATP-binding cassette protein subfamily D: common features in eukaryotic organisms.
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| Lee A, Asahina K, Okamoto T, Kawaguchi K, Kostsin DG, Kashiwayama Y, Takanashi K, Yazaki K, Imanaka T, Morita M.
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| Biochem Biophys Res Commun 453(3):612-8. doi: 10.1016/j.bbrc.2014.09.133. Epub 2014 Oct 6.
2014
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| 3 | ABCD1, BCAP31, DDCH
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| Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
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| Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Lévy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L.
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| Am J Hum Genet 93(3):579-86. doi: 10.1016/j.ajhg.2013.07.023.
2013
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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | ABCD1
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| Very long chain fatty acid β-oxidation in astrocytes: contribution of the ABCD1-dependent and -independent pathways.
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| Morita M, Shinbo S, Asahi A, Imanaka T.
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| Biol Pharm Bull 35(11):1972-9.
2012
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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | ABCD1
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| Three novel variants in X-linked adrenoleukodystrophy.
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| Shukla P, Gupta N, Kabra M, Ghosh M, Sharma R, Gupta AK, Gulati S, Kalra V.
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| J Child Neurol 24(7):857-60. Epub 2009 Apr 30.
2009
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| 14 | ABCD1
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| Downregulation of ABCD1 in human renal cell carcinoma.
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| Hour TC, Kuo YZ, Liu GY, Kang WY, Huang CY, Tsai YC, Wu WJ, Huang SP, Pu YS.
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| Int J Biol Markers 24(3):171-8.
2009
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| 15 | 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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| 16 | 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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| 17 | 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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| 18 | ABCD1
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| Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency.
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| Dumser M, Bauer J, Lassmann H, Berger J, Forss-Petter S.
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| Acta Neuropathol 114(6):573-86. Epub 2007 Sep 9.
2007
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| 19 | 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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| 20 | ABCD1, ABCD2, ABCD3, ACOX2
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| Peroxisomes in human and mouse testis: differential expression of peroxisomal proteins in germ cells and distinct somatic cell types of the testis.
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| Nenicu A, Lüers GH, Kovacs W, David M, Zimmer A, Bergmann M, Baumgart-Vogt E.
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| Biol Reprod 77(6):1060-72. Epub 2007 Sep 19. Erratum in: Biol Reprod. 2008 Feb;78(2):378. David, M [added]; Zimmer, Andreas [added].
2007
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| 21 | 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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| 22 | 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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| 23 | 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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| 24 | 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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| 25 | 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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| 26 | ABCD1, PEX19
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| Function of the PEX19-binding site of human adrenoleukodystrophy protein as targeting motif in man and yeast. PMP targeting is evolutionarily conserved.
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| Halbach A, Lorenzen S, Landgraf C, Volkmer-Engert R, Erdmann R, Rottensteiner H.
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| J Biol Chem 280(22):21176-82. Epub 2005 Mar 21. 2005
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| 27 | 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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| 28 | 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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| 29 | 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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| 30 | ABCD1, ABCD3
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| ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1).
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| Tanaka AR, Tanabe K, Morita M, Kurisu M, Kasiwayama Y, Matsuo M, Kioka N, Amachi T, Imanaka T, Ueda K.
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| J Biol Chem 277(42):40142-7. Epub 2002 Aug 09. 2002
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| 31 | ABCD1, BCAP31, DDCH
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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. Epub 2002 Apr 29.
2002
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| 32 | ABCD1
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| Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.
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| Dvorakova L, Storkanova G, Unterrainer G, Hujova J, Kmoch S, Zeman J, Hrebicek M, Berger J.
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| Hum Mutat 18(1):52-60. 2001
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| 33 | 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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| 34 | ABCD1
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| Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.
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| Takano H, et al.
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| Arch Neurol 56(3):295-300. 1999
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| 35 | 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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| 36 | 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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| 37 | 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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| 38 | ABCD1
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| Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.
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| Krasemann EW, et al.
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| Hum Genet 97 : 194-197. 1996
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| 39 | ABCD1, ABCD1P1
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| Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection.
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| Braun A, et al.
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| Hum Mutat 7 : 105-108. 1996
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| 40 | ABCD1, ABCD1P3, BCAP31, SLC6A10P, SLC6A8
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| Duplication of a gene-rich cluster between 16p11.1 and Xq28 : a novel pericentromeric-directed mechanism for paralogous genome evolution.
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| Eichler EE, et al.
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| Hum Mol Genet 5 : 899-912. 1996
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| 41 | 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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| 42 | 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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| 43 | ABCD1
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| A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy : a clinical, biochemical, and genetic study.
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| Vorgerd M, et al.
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| J Neurol Neurosurg Psychiatry 58 : 229-231. 1995
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| 44 | ABCD1
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| Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.
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| Braun A, et al.
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| Am J Hum Genet 56 : 854-861. 1995
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| 45 | ABCD1
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| The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein.
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| Mosser J, et al.
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| Hum Mol Genet 3 : 265-271. 1994
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| 46 | ABCD1
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| The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein.
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| Contreras M, et al.
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| FEBS Lett 344 : 211-215. 1994
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| 47 | ABCD1
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| Genomic organization of the adrenoleukodystrophy gene.
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| Sarde CO, et al.
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| Genomics 22 : 13-20. 1994
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| 48 | 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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| 49 | ABCD1
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| Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy : a possible hot spot for mutations.
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| Kemp S, et al.
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| Biochem Biophys Res Commun 202 : 647-653. 1994
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| 50 | 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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| 51 | ABCD1, ALD
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| Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.
|
| Cartier N, et al.
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| Hum Mol Genet 2 : 1949-1951. 1993
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| 52 | LCR-RGCP@, ABCD1
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| Chromosomal rearrangemnt segregating with adrenoleukodystrophy : a molecular analysis.
|
| Sack GH, et al.
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| Proc Natl Acad Sci U S A 90 : 9489-9493. 1993
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| 53 | ABCD1
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| Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
|
| Mosser J, et al.
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| Nature 361 : 726-730. 1993
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| 54 | ABCD1
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| Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis.
|
| van Oost BA, et al.
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| Hum Genet 86 : 404-407. 1991
|