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Items: 1 to 20 of 168

1.

The gene expression profiles of induced pluripotent stem cells from individuals with childhood cerebral adrenoleukodystrophy are consistent with proposed mechanisms of pathogenesis.

Wang XM, Yik WY, Zhang P, Lu W, Dranchak PK, Shibata D, Steinberg SJ, Hacia JG.

Stem Cell Res Ther. 2012 Oct 4;3(5):39. doi: 10.1186/scrt130.

2.

Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.

Wang XM, Yik WY, Zhang P, Lu W, Huang N, Kim BR, Shibata D, Zitting M, Chow RH, Moser AB, Steinberg SJ, Hacia JG.

Stem Cell Res Ther. 2015 Aug 29;6:158. doi: 10.1186/s13287-015-0149-3.

3.

Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients.

Jang J, Kang HC, Kim HS, Kim JY, Huh YJ, Kim DS, Yoo JE, Lee JA, Lim B, Lee J, Yoon TM, Park IH, Hwang DY, Daley GQ, Kim DW.

Ann Neurol. 2011 Sep;70(3):402-9. doi: 10.1002/ana.22486. Epub 2011 Jun 30.

PMID:
21721033
4.

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.

Chu SS, Ye J, Zhang HW, Han LS, Qiu WJ, Gao XL, Gu XF.

World J Pediatr. 2015 Nov;11(4):366-73. doi: 10.1007/s12519-015-0044-0. Epub 2015 Oct 11.

PMID:
26454440
6.
7.

[X-linked adrenoleukodystrophy].

Aubourg P.

Ann Endocrinol (Paris). 2007 Dec;68(6):403-11. Epub 2007 May 29. Review. French.

PMID:
17532287
8.

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. doi: 10.1111/jnc.13562. Epub 2016 Mar 14.

9.

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. Review.

PMID:
11748843
10.

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. Epub 2002 Apr 29.

11.

Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy.

Engelen M, Ofman R, Mooijer PA, Poll-The BT, Wanders RJ, Kemp S.

Biochim Biophys Acta. 2008 Mar;1781(3):105-11. doi: 10.1016/j.bbalip.2007.12.003. Epub 2007 Dec 28.

PMID:
18206987
12.

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 15;14(10):1293-303. Epub 2005 Mar 30.

PMID:
15800013
13.

Functional Characterization of IPSC-Derived Brain Cells as a Model for X-Linked Adrenoleukodystrophy.

Baarine M, Khan M, Singh A, Singh I.

PLoS One. 2015 Nov 18;10(11):e0143238. doi: 10.1371/journal.pone.0143238. eCollection 2015.

14.

Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy.

Gong Y, Mu D, Prabhakar S, Moser A, Musolino P, Ren J, Breakefield XO, Maguire CA, Eichler FS.

Mol Ther. 2015 May;23(5):824-834. doi: 10.1038/mt.2015.6. Epub 2015 Jan 16.

15.

Disease-specific induced pluripotent stem cells: a platform for human disease modeling and drug discovery.

Jang J, Yoo JE, Lee JA, Lee DR, Kim JY, Huh YJ, Kim DS, Park CY, Hwang DY, Kim HS, Kang HC, Kim DW.

Exp Mol Med. 2012 Mar 31;44(3):202-13. doi: 10.3858/emm.2012.44.3.015.

16.

Evaluation of pharmacological induction of fatty acid beta-oxidation in X-linked adrenoleukodystrophy.

McGuinness MC, Zhang HP, Smith KD.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):256-63.

PMID:
11592822
17.

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.

Salsano E, Tabano S, Sirchia SM, Colapietro P, Castellotti B, Gellera C, Rimoldi M, Pensato V, Mariotti C, Pareyson D, Miozzo M, Uziel G.

Orphanet J Rare Dis. 2012 Jan 26;7:10. doi: 10.1186/1750-1172-7-10.

18.

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.

19.

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.

Fourcade S, López-Erauskin J, Galino J, Duval C, Naudi A, Jove M, Kemp S, Villarroya F, Ferrer I, Pamplona R, Portero-Otin M, Pujol A.

Hum Mol Genet. 2008 Jun 15;17(12):1762-73. doi: 10.1093/hmg/ddn085. Epub 2008 Mar 14.

PMID:
18344354
20.

A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy.

Cai YN, Jiang MY, Liang CL, Peng MZ, Cheng J, Sheng HY, Fan LP, Chen XQ, Liu L.

J Pediatr Endocrinol Metab. 2015 May;28(5-6):725-9. doi: 10.1515/jpem-2013-0441.

PMID:
25423669

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