137 related articles for article (PubMed ID: 9712540)
1. Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.
Holzinger A; Maier E; Stöckler-Ipsiroglu S; Braun A; Roscher AA
Clin Genet; 1998 Jun; 53(6):482-7. PubMed ID: 9712540
[TBL] [Abstract][Full Text] [Related]
2. Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
Feigenbaum V; Lombard-Platet G; Guidoux S; Sarde CO; Mandel JL; Aubourg P
Am J Hum Genet; 1996 Jun; 58(6):1135-44. PubMed ID: 8651290
[TBL] [Abstract][Full Text] [Related]
3. ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy.
Kemp S; Mooyer PA; Bolhuis PA; van Geel BM; Mandel JL; Barth PG; Aubourg P; Wanders RJ
J Inherit Metab Dis; 1996; 19(5):667-74. PubMed ID: 8892025
[TBL] [Abstract][Full Text] [Related]
4. Altered expression of ALDP in X-linked adrenoleukodystrophy.
Watkins PA; Gould SJ; Smith MA; Braiterman LT; Wei HM; Kok F; Moser AB; Moser HW; Smith KD
Am J Hum Genet; 1995 Aug; 57(2):292-301. PubMed ID: 7668254
[TBL] [Abstract][Full Text] [Related]
5. Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy.
Unterrainer G; Molzer B; Forss-Petter S; Berger J
Hum Mol Genet; 2000 Nov; 9(18):2609-16. PubMed ID: 11063720
[TBL] [Abstract][Full Text] [Related]
6. Topology of ATP-binding domain of adrenoleukodystrophy gene product in peroxisomes.
Contreras M; Sengupta TK; Sheikh F; Aubourg P; Singh I
Arch Biochem Biophys; 1996 Oct; 334(2):369-79. PubMed ID: 8900413
[TBL] [Abstract][Full Text] [Related]
7. Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection.
Braun A; Kammerer S; Ambach H; Roscher AA
Hum Mutat; 1996; 7(2):105-8. PubMed ID: 8829626
[TBL] [Abstract][Full Text] [Related]
8. Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients.
Imamura A; Suzuki Y; Song XQ; Fukao T; Uchiyama A; Shimozawa N; Kamijo K; Hashimoto T; Orii T; Kondo N
Clin Genet; 1997 May; 51(5):322-5. PubMed ID: 9212180
[TBL] [Abstract][Full Text] [Related]
9. Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy.
Netik A; Forss-Petter S; Holzinger A; Molzer B; Unterrainer G; Berger J
Hum Mol Genet; 1999 May; 8(5):907-13. PubMed ID: 10196381
[TBL] [Abstract][Full Text] [Related]
10. Identification of two new nonsense mutations (Q311X and W326X) in Exon 2 of the adrenoleukodystrophy (ALD) gene.
Barceló A; Girós M; Albiach VJ; Vaquerizo J; Pàmpols T; Estivill X
Hum Mutat; 1996; 8(3):286-7. PubMed ID: 8889593
[No Abstract] [Full Text] [Related]
11. [Adrenoleukodystrophy: structure and function of ALDP, and intracellular behavior of mutant ALDP with naturally occurring missense mutations].
Takahashi N; Morita M; Imanaka T
Yakugaku Zasshi; 2007 Jan; 127(1):163-72. PubMed ID: 17202797
[TBL] [Abstract][Full Text] [Related]
12. Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
Liu LX; Janvier K; Berteaux-Lecellier V; Cartier N; Benarous R; Aubourg P
J Biol Chem; 1999 Nov; 274(46):32738-43. PubMed ID: 10551832
[TBL] [Abstract][Full Text] [Related]
13. Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.
Gärtner J; Dehmel T; Klusmann A; Roerig P
Endocr Res; 2002 Nov; 28(4):741-8. PubMed ID: 12530690
[TBL] [Abstract][Full Text] [Related]
14. Identification of a new frameshift mutation (1801delAG) in the ALD gene.
Barceló A; Girós M; Sarde CO; Martínez-Bermejo A; Mandel JL; Pàmpols T; Estivill X
Hum Mol Genet; 1994 Oct; 3(10):1889-90. PubMed ID: 7849718
[No Abstract] [Full Text] [Related]
15. Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy.
Petroni A; Cappa M; Carissimi R; Blasevich M; Uziel G
J Inherit Metab Dis; 2007 Oct; 30(5):828. PubMed ID: 17602313
[TBL] [Abstract][Full Text] [Related]
16. Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
Takahashi N; Morita M; Maeda T; Harayama Y; Shimozawa N; Suzuki Y; Furuya H; Sato R; Kashiwayama Y; Imanaka T
J Neurochem; 2007 Jun; 101(6):1632-43. PubMed ID: 17542813
[TBL] [Abstract][Full Text] [Related]
17. A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern.
Lombard-Platet G; Savary S; Sarde CO; Mandel JL; Chimini G
Proc Natl Acad Sci U S A; 1996 Feb; 93(3):1265-9. PubMed ID: 8577752
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Mutational analysis of patients with X-linked adrenoleukodystrophy.
Kok F; Neumann S; Sarde CO; Zheng S; Wu KH; Wei HM; Bergin J; Watkins PA; Gould S; Sack G
Hum Mutat; 1995; 6(2):104-15. PubMed ID: 7581394
[TBL] [Abstract][Full Text] [Related]
20. Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
Fanen P; Guidoux S; Sarde CO; Mandel JL; Goossens M; Aubourg P
J Clin Invest; 1994 Aug; 94(2):516-20. PubMed ID: 8040304
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]