Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations
نویسندگان
چکیده
منابع مشابه
Analyzing Effects of Naturally Occurring Missense Mutations
Single-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will produce an amino acid substitution in the corresponding protein sequence (missense mutations); others will not. This paper focuses on genetic mutations resulting in a change in the amino acid seque...
متن کاملDistribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy.
Defects of adrenoleukodystrophy protein (ALDP) lead to X-linked adrenoleukodystrophy (X-ALD), a disorder mainly affecting the nervous system white matter and the adrenal cortex. In the present study, we examine the expression of ALDP in various human tissues and cell lines by multiple-tissue RNA expression array analysis, Western blot analysis, and immunohistochemistry. ALDP-encoding mRNA is mo...
متن کاملSpectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
X-linked adrenoleukodystrophy (ALD) has been associated with mutations in a gene encoding an ATP-binding transporter, which is located in the peroxisomal membrane. Deficiency of the gene leads to impaired peroxisomal beta-oxidation. Systematic analysis of the open reading frame of the ALD gene, using reverse transcriptase-PCR, followed by direct sequencing, revealed mutations in all 28 unrelate...
متن کاملAdrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy.
Inherited defects in the peroxisomal ATP-binding cassette (ABC) transporter adrenoleukodystrophy protein (ALDP) lead to the lethal peroxisomal disorder X-linked adrenoleukodystrophy (X-ALD), for which no efficient treatment has been established so far. Three other peroxisomal ABC transporters currently are known: adrenoleukodystrophy-related protein (ALDRP), 70 kDa peroxisomal membrane protein ...
متن کاملAdrenoleukodystrophy: case report.
Adrenoleukodystrophy (ALD) is an X-linked neurodegenerative disorder associated with progressive central demyelination and adrenal insufficiency1. It was first described by Siemerling and Creutzfeldt2 in 1923 as “bronzed sclerosing encephalomyelitis. In 1970, Biaw assigned the now generally used term adrenoleukodystrophy. It is believed to be peroxisomal disease and biochemically characterized ...
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ژورنال
عنوان ژورنال: Journal of Neurochemistry
سال: 2007
ISSN: 0022-3042,1471-4159
DOI: 10.1111/j.1471-4159.2007.04457.x