Peroxisomal ABC transporters and X-linked adrenoleukodystrophy

被引：3

作者：

Geillon, Flore ^{[1
]}

Trompier, Doriane ^{[1
]}

Gondcaille, Catherine ^{[1
]}

Lizard, Gerard ^{[1
]}

Savary, Stephane ^{[1
]}

机构：

[1] Univ Bourgogne, Lab BioperoxIL Biochim Peroxysome Inflammat & Met, EA7270, F-21000 Dijon, France

来源：

M S-MEDECINE SCIENCES | 2012年 / 28卷 / 12期

关键词：

CHAIN FATTY-ACID; MOUSE MODEL; ASYMPTOMATIC PATIENTS; AXONAL DEGENERATION; GENE-THERAPY; ALD; INDUCTION; PROTEIN; ACCUMULATION;

D O I：

10.1051/medsci/20122812019

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Peroxisomal ABC transporters and X-linked adrenoleukodystrophy X-linked adrenoleukodystrophy (X-ALD) is a complex neurodegenerative disease associated with mutations in the ABCD1 gene, which encodes for a peroxisomal ABC transporter. Thanks to the efforts of the ELA foundation and to the recent successes of gene therapy published in Science in 2009, X-ALD is better known but still remains poorly understood. The exact role of ABCD1 and its homologs, as well as the exact link between the biochemical and metabolic peroxisomal defects and the clinical symptoms of the disease remain to be elucidated. This review summarizes the knowledge concerning the subfamily D of the ABC transporter family and concerning X-ALD, the most frequent peroxisomal disorder.

引用

页码：1087 / 1094

页数：8

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