298 related articles for article (PubMed ID: 22280810)
1. 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; 7():10. PubMed ID: 22280810
[TBL] [Abstract][Full Text] [Related]
2. Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.
Wang Z; Yan A; Lin Y; Xie H; Zhou C; Lan F
PLoS One; 2013; 8(3):e57977. PubMed ID: 23469258
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. PubMed ID: 26454440
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Caffeic acid phenethyl ester induces adrenoleukodystrophy (Abcd2) gene in human X-ALD fibroblasts and inhibits the proinflammatory response in Abcd1/2 silenced mouse primary astrocytes.
Singh J; Khan M; Singh I
Biochim Biophys Acta; 2013 Apr; 1831(4):747-58. PubMed ID: 23318275
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. 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]
11. A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination.
Strachan LR; Stevenson TJ; Freshner B; Keefe MD; Miranda Bowles D; Bonkowsky JL
Hum Mol Genet; 2017 Sep; 26(18):3600-3614. PubMed ID: 28911205
[TBL] [Abstract][Full Text] [Related]
12. ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis.
Buda A; Forss-Petter S; Hua R; Jaspers Y; Lassnig M; Waidhofer-Söllner P; Kemp S; Kim P; Weinhofer I; Berger J
Biomolecules; 2023 Aug; 13(9):. PubMed ID: 37759733
[TBL] [Abstract][Full Text] [Related]
13. Two Single Nucleotide Deletions in the
Dohr KA; Tokic S; Gastager-Ehgartner M; Stojakovic T; Dumic M; Plecko B; Dumic KK
Int J Mol Sci; 2023 Mar; 24(6):. PubMed ID: 36983033
[TBL] [Abstract][Full Text] [Related]
14. X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism is severely impaired in monocytes but not in lymphocytes.
Weber FD; Wiesinger C; Forss-Petter S; Regelsberger G; Einwich A; Weber WH; Köhler W; Stockinger H; Berger J
Hum Mol Genet; 2014 May; 23(10):2542-50. PubMed ID: 24363066
[TBL] [Abstract][Full Text] [Related]
15. Cholesterol regulates ABCD2 expression: implications for the therapy of X-linked adrenoleukodystrophy.
Weinhofer I; Forss-Petter S; Zigman M; Berger J
Hum Mol Genet; 2002 Oct; 11(22):2701-8. PubMed ID: 12374760
[TBL] [Abstract][Full Text] [Related]
16. A Large Family with p.Arg554His Mutation in
Campopiano R; Femiano C; Chiaravalloti MA; Ferese R; Centonze D; Buttari F; Zampatti S; Fanelli M; Amatori S; D'Alessio C; Giardina E; Fornai F; Biagioni F; Storto M; Gambardella S
Genes (Basel); 2021 May; 12(5):. PubMed ID: 34069712
[TBL] [Abstract][Full Text] [Related]
17. Abcd2 is a strong modifier of the metabolic impairments in peritoneal macrophages of ABCD1-deficient mice.
Muneer Z; Wiesinger C; Voigtländer T; Werner HB; Berger J; Forss-Petter S
PLoS One; 2014; 9(9):e108655. PubMed ID: 25255441
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.
Singh I; Pujol A
Brain Pathol; 2010 Jul; 20(4):838-44. PubMed ID: 20626745
[TBL] [Abstract][Full Text] [Related]
20. X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Wang Y; Busin R; Reeves C; Bezman L; Raymond G; Toomer CJ; Watkins PA; Snowden A; Moser A; Naidu S; Bibat G; Hewson S; Tam K; Clarke JT; Charnas L; Stetten G; Karczeski B; Cutting G; Steinberg S
Mol Genet Metab; 2011; 104(1-2):160-6. PubMed ID: 21700483
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
