Successful gene therapy in X-linked adrenoleukodystrophy
نویسندگان
چکیده
منابع مشابه
Inflammation in X - linked Adrenoleukodystrophy
Project Description: Cells compute by processing external stimuli according to their internal state, abiding to rules that remain poorly understood (Rubens et al., 2016). Cell fate decisions are the key for constructing a multicellular organism. Errors, bias or aberrant delays in making such decisions can lead to neoplasia or in extreme cases, tumorigenesis. Our key question is how cells make d...
متن کاملMRI in X-linked adrenoleukodystrophy.
A 45-year-old man with no medical history presented with behavioral changes. He was withdrawn from his family and friends. Home and finances had fallen into disorder. He was disheveled and incontinent of urine and feces. He lacked insight into his cognitive decline. His skin was bronzed and the examination was notable only for upgoing plantar responses. Peroxisomal fatty acid profile was elevat...
متن کاملCD1 Gene Polymorphisms and Phenotypic Variability in X-Linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD). X-ALD is caused by mutations in the ABCD1 gene, but no genotype-phenotype correlation has been established so far and modifier gene variants are suspected to modulate phenotypes. Specific classes of lipids, enriched in very long-chain ...
متن کاملPathophysiology of X-linked adrenoleukodystrophy☆
Currently the molecular basis for the clinical heterogeneity of X-linked adrenoleukodystrophy (X-ALD) is poorly understood. The genetic bases for all different phenotypic variants of X-ALD are mutations in the gene encoding the peroxisomal ATP-binding cassette (ABC) transporter, ABCD1 (formerly adrenoleukodystrophy protein, ALDP). ABCD1 transports CoA-activated very long-chain fatty acids from ...
متن کاملX linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.
X linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insufficiency. The lowest estimated birth incidence is one per 100,000. At lea...
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ژورنال
عنوان ژورنال: Nature Reviews Neurology
سال: 2010
ISSN: 1759-4758,1759-4766
DOI: 10.1038/nrneurol.2009.204