On the Front of X-Linked Adrenoleukodystrophy

被引：0
作者：
Patrick Aubourg
机构：
[1] Université René Descartes,Institut National de la Santé et de la Recherche médicale (U342), Hôpital St Vincent de Paul
来源：
Neurochemical Research | 1999年 / 24卷
关键词：
Adrenoleukodystrophy; peroxisome; ABC transporters;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
The profound and lasting involvement of Hugo and Ann Moser have allowed to make remarkable progress in adrenoleulodystrophy (ALD) during the last 20 years. Besides their own commitment in ALD, Hugo and Ann have constantly encouraged physicians, biologists and molecular geneticists to undertake clinical and fundamental research in this devastating disease. There is now some preventive and therapeutic approaches which can be proposed to ALD patients and families. The issues that still remain unresolved will certainly keep busy those who share the «Hugo and Ann spirit».
引用
收藏
页码：515 / 520
页数：5
相关论文
共 247 条
[1]  
Moser H.W.(1997)Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy Brain 120 1485-1508
[2]  
Moser H.W.(1984)Adrenoleukodystrophy: Survey of 303 cases: biochemistry, diagnosis and therapy Ann. Neurol. 16 628-641
[3]  
Moser A.B.(1993)Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters Nature 361 726-730
[4]  
O'Neill B.P.(1996)A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters Proc. Natl. Acad. Sci. USA 93 11901-11906
[5]  
Mosser J.(1996)The ABC transporter proteins Pat1 and Pat2 are required for import of long-chain fatty acids into peroxisomes of Saccharomyces cerevisiae EMBO J. 15 3813-3822
[6]  
Douar A.-M.(1995)Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes Am. J. Hum. Genet. 56 854-861
[7]  
Sarde C.-O.(1995)Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein Am. J. Hum. Genet. 56 44-50
[8]  
Kioschis P.(1995)Mutational analysis of patients with X-linked adrenoleukodystrophy Hum Mutation 6 104-115
[9]  
Feil R.(1996)Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy Am. J. Hum. Genet. 58 1135-1144
[10]  
Moser H.(1994)Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands: A survey of 30 kindreds Neurology 44 2343-2346
12345678910