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Histone deacetylases (HDACs): characterization of the classical HDAC family.
Transcriptional regulation in eukaryotes occurs within a chromatin setting, and is strongly influenced by the post-translational modification of histones, the building blocks of chromatin, such asExpand
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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which isExpand
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ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
X‐linked adrenoleukodystrophy (X‐ALD) is caused by mutations in the ABCD1 gene, which encodes a peroxisomal ABC half‐transporter (ALDP) involved in the import of very long‐chain fatty acids (VLCFA)Expand
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Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy
As more functional redundancy in mammalian cells is discovered, enhanced expression of genes involved in alternative pathways may become an effective form of gene therapy. X-linkedExpand
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X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal transporter of very long-chain fatty acids. AExpand
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X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifestsExpand
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Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.
X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder, characterized by progressive cerebral demyelination cerebral childhood adrenoleukodystrophy (CCALD) or spinal cordExpand
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The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy
X‐linked adrenoleukodystrophy (X‐ALD) is caused by mutations in the ABCD1 gene encoding the peroxisomal ABC transporter adrenoleukodystrophy protein (ALDP). X‐ALD is characterized by the accumulationExpand
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A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene
Background Peroxisomes are organelles that proliferate continuously and play an indispensable role in human metabolism. Consequently, peroxisomal gene defects can cause multiple, often severeExpand
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Peroxisomes, lipid metabolism and lipotoxicity.
Peroxisomes play an essential role in cellular lipid metabolism as exemplified by the existence of a number of genetic diseases in humans caused by the impaired function of one of the peroxisomalExpand
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