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Peroxisomal Disorders and Regulation of Genes : Advances in Experimental Medicine and Biology - Frank Roels

Peroxisomal Disorders and Regulation of Genes

Advances in Experimental Medicine and Biology

By: Frank Roels (Editor), Myriam Baes (Editor), Sylvia Delanghe (Editor)

Hardcover Published: 31st December 2003
ISBN: 9780306481741
Number Of Pages: 429

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In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.

Why study regulation of genes in inherited disorders?p. 1
Phenotypic variability (heterogeneity) of peroxisomal disordersp. 9
Mulibrey nanism: a novel peroxisomal disorderp. 31
Peroxisomes during development and in distinct cell typesp. 39
Tissue-specific expression of two peroxisomal 3-ketoacyl-CoA thiolase genes in wild and PPAP[alpha]-null mice and induction by fenofibratep. 55
Clinical features and retinal function in patients with adult Refsum syndromep. 57
Is there a phenotype/genotype correlation in peroxisome biogenesis disorders (PBDs)?p. 59
Biochemical markers predicting survival in peroxisome biogenesis disordersp. 67
Identification of PEX7 as the second gene involved in Refsum diseasep. 69
Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 genep. 71
Disturbances of valine metabolism in patients with peroxisomal biogenesis disordersp. 73
Mouse models and genetic modifiers in X-linked adrenoleukodystrophyp. 75
Evidence against the adrenoleukodystrophy-related gene acting as a modifier of X-adrenoleukodystrophyp. 95
Peroxisome mosaicsp. 97
Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liverp. 107
Lessons from knockout mice I: Phenotypes of mice with peroxisome biogenesis disordersp. 113
Lessons from knockout mice II: Mouse models for peroxisomal disorders with single protein deficiencyp. 123
DNA methylation and human diseasesp. 135
RNA silencingp. 145
Imprintingp. 159
Histone Modifications - Marks for Gene Expressions?p. 169
A paradigm for gene regulation: inflammation, NF-[kappa]B and PPARp. 181
Methods: DNA methylationp. 197
RNA interference in mammalian systems: A practical approachp. 205
Histone modifications: methods and techniquesp. 217
Characterization of the peroxisomal cycling receptor Pex5p import pathwayp. 219
Interaction of PEX3 and PEX19 visualized by fluorescence resonance energy transfer (FRET)p. 221
Gene Regulation of Peroxisomal Enzymes by Nutrients, Hormones and Nuclear Signalling Factors in Animal and Human Speciesp. 225
Regulation of peroxisomal genes by dehydroepiandosterone and vit Dp. 237
Effect of DHEA supplementation on fatty acid and hormone levels in patients with X-linked adrenoleukodystrophy Johanna Assiesp. 243
Dehydroepiandosterone induction of the Abcd2 and Abcd3 genes encoding peroxisomal ABC transporters: implications for X-linked adrenoleukodystrophyp. 245
Phytanic and pristanic acids are naturally occurring ligandsp. 247
Modifying the peroxisomes by cell & tissue culture: I. Modified peroxisomes in primary hepatocyte culturesp. 255
Modifying the peroxisomes by cell & tissue culture: II. Fibroblastsp. 265
Modifying the peroxisomes by cell & tissue culture: III. Peroxisomes and PPAR in culture neural cellsp. 271
Pharmacological induction of redundant genes for a therapy of X-ALD: phenylbutyrate and other compoundsp. 281
Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insightsp. 293
Role of phytanoyl-CoA 2-hydroxylase in phytanic acid degradationp. 303
Thiamine pyrophospate: an essential cofactor in the mammalian metabolism of 3-methyl-branched fatty acids - implications for thiamine deficiency?p. 305
Metabolic regulation of peroxisomal and mitochondrial fatty acid oxidationp. 307
Cholesterol biosynthesis and regulation: role of peroxisomesp. 315
Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesisp. 329
Cholesterol regulates ABCD2 gene expression: implication for X-linked adrenoleuko-dystrophyp. 331
Regulations of farnesyl diphosphate synthase gene expression by fatty acidsp. 333
Plasmalogens, docosahexaenoic acid and neurological disordersp. 335
Targeted disruption of ether lipid synthesis in micep. 355
Evaluation of the preventive effect of glyceryl trioleate-trierucate (Lorenzo's oil) therapy in presymtomatic X-linked adrenoleukodystrophy. Results of two concurrent studiesp. 369
Author Indexp. 389
Subject Indexp. 391
Table of Contents provided by Blackwell. All Rights Reserved.

ISBN: 9780306481741
ISBN-10: 030648174X
Series: Advances in Experimental Medicine and Biology
Audience: Professional
Format: Hardcover
Language: English
Number Of Pages: 429
Published: 31st December 2003
Publisher: Springer Science+Business Media
Country of Publication: US
Dimensions (cm): 25.4 x 17.8  x 3.18
Weight (kg): 2.33