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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Nature Medicinearrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Nature Medicine
Article . 1998 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
Nature Medicine
Article . 1998
Nature Medicine
Article . 1998
Data sources: Pure Amsterdam UMC
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Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy

Authors: Kemp, S.; Wei, H. M.; Lu, J. F.; Braiterman, L. T.; McGuinness, M. C.; Moser, A. B.; Watkins, P. A.; +1 Authors

Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy

Abstract

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-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder with impaired very-long-chain fatty acid metabolism. The X-ALD gene encodes a peroxisomal membrane protein (ALDP) that is part of a small family of related peroxisomal membrane proteins. We show that 4-phenylbutyrate treatment of cells from both X-ALD patients and X-ALD knockout mice results in decreased levels of and increased beta-oxidation of very-long-chain fatty acids; increased expression of the peroxisomal protein ALDRP; and induction of peroxisome proliferation. We also demonstrate that ALDP and ALDRP are functionally related, by ALDRP cDNA complementation of X-ALD fibroblasts. Finally, we demonstrate the in vivo efficacy of dietary 4-phenylbutyrate treatment through its production of a substantial reduction of very-long-chain fatty acid levels in the brain and adrenal glands of X-ALD mice.

Country
Netherlands
Related Organizations
Keywords

Mice, Knockout, X Chromosome, Reverse Transcriptase Polymerase Chain Reaction, Proteins, Genetic Therapy, Fibroblasts, ATP Binding Cassette Transporter, Subfamily D, ATP Binding Cassette Transporter, Subfamily D, Member 1, Microbodies, Phenylbutyrates, Cell Line, Mice, Multigene Family, Animals, Humans, ATP-Binding Cassette Transporters, Lymphocytes, Adrenoleukodystrophy, Cells, Cultured, DNA Primers

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
236
Top 10%
Top 1%
Top 1%
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