BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

241 related articles for article (PubMed ID: 15564782)

  • 1. Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy.
    Mak CM; Lam KS; Ma OC; Tso AW; Tam S
    Horm Res; 2005; 63(1):1-5. PubMed ID: 15564782
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.
    Kallabi F; Hadj Salem I; Ben Salah G; Ben Turkia H; Ben Chehida A; Tebib N; Fakhfakh F; Kamoun H
    Neurodegener Dis; 2013; 12(4):207-11. PubMed ID: 23651979
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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]  

  • 4. [X-linked adrenoleukodystrophy].
    Aubourg P
    Ann Endocrinol (Paris); 2007 Dec; 68(6):403-11. PubMed ID: 17532287
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy.
    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
    Hum Mol Genet; 2013 Aug; 22(16):3296-305. PubMed ID: 23604518
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Substrate specificity overlap and interaction between adrenoleukodystrophy protein (ALDP/ABCD1) and adrenoleukodystrophy-related protein (ALDRP/ABCD2).
    Genin EC; Geillon F; Gondcaille C; Athias A; Gambert P; Trompier D; Savary S
    J Biol Chem; 2011 Mar; 286(10):8075-8084. PubMed ID: 21209459
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.
    Karkar A; Barakat A; Bakhchane A; Fettah H; Slassi I; Dorboz I; Boespflug-Tanguy O; Nadifi S
    BMC Neurol; 2015 Nov; 15():244. PubMed ID: 26607867
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. [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]  

  • 12. Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.
    Dvoráková L; Storkánová G; Unterrainer G; Hujová J; Kmoch S; Zeman J; Hrebícek M; Berger J
    Hum Mutat; 2001; 18(1):52-60. PubMed ID: 11438993
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.
    Hung KL; Wang JS; Keng WT; Chen HJ; Liang JS; Ngu LH; Lu JF
    Pediatr Neurol; 2013 Sep; 49(3):185-90. PubMed ID: 23835273
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
    Kallabi F; Ben Salah G; Ben Chehida A; Tabebi M; Felhi R; Ben Turkia H; Tebib N; Keskes L; Kamoun H
    Biochem Cell Biol; 2016 Jun; 94(3):265-9. PubMed ID: 27248780
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Thyroid Hormone-Based Strategy for Correcting the Biochemical Abnormality in X-Linked Adrenoleukodystrophy.
    Hartley MD; Kirkemo LL; Banerji T; Scanlan TS
    Endocrinology; 2017 May; 158(5):1328-1338. PubMed ID: 28200172
    [TBL] [Abstract][Full Text] [Related]  

  • 20. X-linked adrenoleukodystrophy caused by a novel mutation presenting with various phenotypes in a Taiwanese family.
    Chien CY; Chang KH; Chen CM
    Clin Chim Acta; 2021 Mar; 514():100-106. PubMed ID: 33359056
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.