Peroxisomal Disorders and Regulation of Genes

Front Matter....Pages i-xiv
Why Study Regulation of Genes in Inherited Disorders?....Pages 1-8
Phenotypic Variability (Heterogeneity) of Peroxisomal Disorders....Pages 9-30
Mulibrey Nanism - a Novel Peroxisomal Disorder....Pages 31-37
Peroxisomes during Development and in Distinct Cell Types....Pages 39-54
Tissue-specific Expression of Two Peroxisomal 3-ketoacyl-CoA Thiolase Genes in Wild and PPARα-null Mice and Induction by Fenofibrate....Pages 55-56
Clinical Features & Retinal Function In Patients With Adult Refsum Syndrome....Pages 57-58
Is there a Phenotype/Genotype Correlation in Peroxisome Biogenesis Disorders (PBDs)?....Pages 59-65
Biochemical Markers Predicting Survival in Peroxisome Biogenesis Disorders....Pages 67-68
Identification of PEX7 as the Second Gene Involved in Refsum Disease....Pages 69-70
Genetic Heterogeneity in Japanese Patients with Peroxisome Biogenesis Disorders and Evidence for a Founder Haplotype for the Most Common Mutation in PEX10 Gene....Pages 71-71
Disturbances of Valine Metabolism in Patients with Peroxisomal Biogenesis Disorders....Pages 73-74
Mouse Models and Genetic Modifiers in X-Linked Adrenoleukodystrophy....Pages 75-93
Evidence against the Adrenoleukodystrophy-related Gene acting as a Modifier of X-adrenoleukodystrophy....Pages 95-96
Peroxisome Mosaics....Pages 97-106
Resolution of the Molecular Defect in a Patient with Peroxisomal Mosaicism in the Liver....Pages 107-111
Lessons from Knockout Mice. I: Phenotypes of Mice with Peroxisome Biogenesis Disorders....Pages 113-122
Lessons from Knockout Mice II: Mouse Models for Peroxisomal Disorders with Single Protein Deficiency....Pages 123-134
DNA Methylation and Human Diseases....Pages 135-144
RNA Silencing....Pages 145-158
Imprinting....Pages 159-168
Histone Modifications-Marks for Gene Expression?....Pages 169-180
A Paradigm for Gene Regulation: Inflammation, NF-κB and PPAR....Pages 181-196
Methods: DNA Methylation....Pages 197-204
RNA Interference in Mammalian Systems - A Practical Approach....Pages 205-216
Histone Modifications:Methods and Techniques....Pages 217-218
Characterization of the Peroxisomal Cycling Receptor Pex5p Import Pathway....Pages 219-220
Interaction of PEX3 and PEX19 Visualized by Fluorescence Resonance Energy Transfer (FRET)....Pages 221-224
Gene Regulation of Peroxisomal Enzymes by Nutrients, Hormones and Nuclear Signalling Factors in Animal and Human Species....Pages 225-236
Regulation of Peroxisomal Genes by DHEA and Vitamin D....Pages 237-242
Effect of Dehydroepiandrosterone (DHEA) Supplementation on Fatty Acid and Hormone Levels in Patients with X-linked Adrenoleukodystrophy....Pages 243-244
Dehydroepiandrosterone Induction of the Abcd2 and Abcd3 Genes encoding peroxisomal ABC Transporters....Pages 245-245
Phytanic and Pristanic Acid Are Naturally Occuring Ligands....Pages 247-254
Modified Peroxisomes in Primary Hepatocyte Cultures....Pages 255-264
Modifying the Peroxisomes by Cell & Tissue Culture....Pages 265-270
Peroxisomes and PPARs in Cultured Neural Cells....Pages 271-280
Pharmacological Induction of Redundant Genes for a Therapy of X-ALD....Pages 281-291
Peroxisomal Fatty Acid Alpha-and Beta-Oxidation in Health and Disease: New insights....Pages 293-302
Role of Phytanoyl-CoA 2-Hydroxylase in Phytanic Acid Metabolism....Pages 303-304
Thiamine Pyrophosphate: an essential Cofactor in the Mammalian Metabolism of 3-methyl-branched Fatty Acids....Pages 305-306
Metabolic Regulation of Peroxisomal and Mitochondrial Fatty Acid Oxidation....Pages 307-314
Cholesterol Biosynthesis and Regulation: Role of Peroxisomes....Pages 315-327
Peroxisome Deficiency Does Not Result in Deficiency of Enzymes involved in Cholesterol Biosynthesis....Pages 329-330
Cholesterol regulates ABCD2 Gene Expression: implications for X-linked Adrenoleukodstrophy....Pages 331-332
Regulation of Farnesyl Diphosphate Synthase Gene Expression by Fatty Acids....Pages 333-334
Plasmalogens, Docosahexaenoic Acid and Neurological Disorders....Pages 335-354
Targeted Disruption Of Ether Lipid Synthesis In Mice....Pages 355-368
Evaluation of the Preventive Effect of Glyceryl Trioleate-Trierucate (“Lorenzo’s Oil”) Therapy in X-Linked Adrenoleukodystrophy: Results of Two Concurrent Trials....Pages 369-387
Back Matter....Pages 389-429