155 related articles for article (PubMed ID: 8829626)
1. 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]
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. 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]
4. Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Fuchs S; Sarde CO; Wedemann H; Schwinger E; Mandel JL; Gal A
Hum Mol Genet; 1994 Oct; 3(10):1903-5. PubMed ID: 7849723
[No Abstract] [Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy.
Holzinger A; Mayerhofer P; Berger J; Lichtner P; Kammerer S; Roscher AA
Biochem Biophys Res Commun; 1999 May; 258(2):436-42. PubMed ID: 10329405
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
Mosser J; Douar AM; Sarde CO; Kioschis P; Feil R; Moser H; Poustka AM; Mandel JL; Aubourg P
Nature; 1993 Feb; 361(6414):726-30. PubMed ID: 8441467
[TBL] [Abstract][Full Text] [Related]
14. PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene.
Shani N; Watkins PA; Valle D
Proc Natl Acad Sci U S A; 1995 Jun; 92(13):6012-6. PubMed ID: 7597071
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
Ligtenberg MJ; Kemp S; Sarde CO; van Geel BM; Kleijer WJ; Barth PG; Mandel JL; van Oost BA; Bolhuis PA
Am J Hum Genet; 1995 Jan; 56(1):44-50. PubMed ID: 7825602
[TBL] [Abstract][Full Text] [Related]
17. 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]
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. [Avoiding the interference of ABCD1 pseudogenes in the molecular diagnosis of X-linked adrenoleukodystrophy by double amplification refractory mutation system].
Wang ZH; Huang LH; Lan FH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Oct; 23(5):558-60. PubMed ID: 17029209
[TBL] [Abstract][Full Text] [Related]
20. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy.
Boehm CD; Cutting GR; Lachtermacher MB; Moser HW; Chong SS
Mol Genet Metab; 1999 Feb; 66(2):128-36. PubMed ID: 10068516
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
