Abstract |
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.
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Authors | Flore Geillon, Doriane Trompier, Catherine Gondcaille, Gérard Lizard, Stéphane Savary |
Journal | Medecine sciences : M/S
(Med Sci (Paris))
Vol. 28
Issue 12
Pg. 1087-94
(Dec 2012)
ISSN: 0767-0974 [Print] France |
Vernacular Title | Transporteurs ABC peroxysomaux et adrénoleucodystrophie liée au chromosome X. |
PMID | 23290409
(Publication Type: Journal Article, Review)
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Copyright | © 2012 médecine/sciences – Inserm / SRMS. |
Chemical References |
- ATP-Binding Cassette Transporters
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Topics |
- ATP-Binding Cassette Transporters
(genetics, metabolism, physiology)
- Adrenoleukodystrophy
(etiology, genetics, metabolism)
- Animals
- Humans
- Intracellular Membranes
(metabolism)
- Models, Biological
- Neurodegenerative Diseases
(etiology, genetics, metabolism)
- Peroxisomal Disorders
(genetics, metabolism)
- Peroxisomes
(metabolism, physiology)
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