[Peroxisomal ABC transporters and X-linked adrenoleukodystrophy]. / Transporteurs ABC peroxysomaux et adrénoleucodystrophie liée au chromosome X.
Med Sci (Paris)
; 28(12): 1087-94, 2012 Dec.
Article
em Fr
| MEDLINE
| ID: mdl-23290409
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transportadores de Cassetes de Ligação de ATP
/
Adrenoleucodistrofia
/
Peroxissomos
Tipo de estudo:
Etiology_studies
Limite:
Animals
/
Humans
Idioma:
Fr
Ano de publicação:
2012
Tipo de documento:
Article