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Intro; Preface; Contents; Contributors; About the Editors; Abbreviations; Chapter 1: An Epigenetic Spin to ALS and FTD; 1.1 Introduction; 1.2 Epigenetic Mechanisms; 1.2.1 Nuclear DNA Methylation; 1.2.2 Nuclear DNA Demethylation; 1.2.3 Mitochondrial DNA Methylation; 1.2.4 RNA Methylation; 1.2.5 RNA-Mediated Regulation; 1.2.6 Histone Modifications; 1.3 Epigenetic Changes in Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD); 1.3.1 ALS/FTD Epigenetic Studies; 1.3.1.1 Nuclear DNA methylation/demethylation; 1.3.1.2 RNA-mediated regulation through miRNAs.
1.3.2 C9orf72 Epigenetic Studies1.3.3 Potential Drivers of Epigenetic Changes; 1.3.4 Therapeutic Potential; References; Chapter 2: Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes; 2.1 Introduction; 2.2 Organization of Human SMN Genes; 2.3 Regulation of SMN Exon 7 Splicing; 2.3.1 In Vivo Selection of Exon 7; 2.3.2 Effect of Terminal Stem Loop 2; 2.3.3 Effect of Intronic Splicing Silencer N1; 2.3.4 Effect of U-Rich Clusters Within Intron 7; 2.3.5 Effect of Long-Distance Interactions Within Intron 7; 2.3.6 Extension of Exon 7 by the Activation of a Cryptic 5'ss.
2.3.7 Role of cis-Elements Within Intron 62.4 Exonization of an Intronic Alu-Element; 2.5 Alternative Splicing of Other SMN Exons; 2.6 Effect of Transcription on Splicing of Various SMN Exons; 2.7 Conclusions; References; Chapter 3: RNA Editing Deficiency in Neurodegeneration; 3.1 Introduction: RNA Editing Overview; 3.1.1 Major CNS RNA Editing Targets; 3.1.1.1 AMPA Receptors; 3.1.1.2 Serotonin Receptors; 3.1.1.3 Voltage Gated Potassium Channels; 3.2 RNA Editing Deficits in Neurodegeneration; 3.2.1 RNA Editing in Chronic Neurodegenerative Diseases; 3.2.2 RNA Editing in Acute Neurodegeneration.
3.3 A ₂!I RNA Editing Dysfunction in Psychiatric Diseases3.4 Brain Cancer; 3.5 Conclusions; References; Chapter 4: RNA Nucleocytoplasmic Transport Defects in Neurodegenerative Diseases; 4.1 Introduction; 4.2 Export of RNA from the Nucleus; 4.2.1 Nuclear Pores Regulate Transport Between the Nucleus and the Cytoplasm; 4.2.2 Exportin-Mediated Export of RNA; 4.2.3 NXF1 Is the Primary Transporter of mRNA; 4.3 Alterations in RNA Export and in Proteins Required for RNA Export Have Been Identified in Neurodegenerative Diseases; 4.3.1 Nuclear Pore Alterations in Neurodegenerative Diseases.
4.3.2 Alterations in the RanGTPase Gradient Have Been Identified in Neurodegenerative Diseases4.3.3 Nuclear mRNA Retention in Neurodegenerative Diseases; 4.4 Conclusions; References; Chapter 5: RNA Degradation in Neurodegenerative Disease; 5.1 Mechanisms to Maintain RNA Stability; 5.1.1 Polyadenylation; 5.1.2 Methylguanine Cap; 5.1.3 Secondary Structure; 5.1.4 Stress Granules; 5.2 Mechanisms of RNA Decay; 5.2.1 RNA Degradation Machinery; 5.2.2 Nonsense-Mediated Decay; 5.2.2.1 Alternative Exon Inclusion and Exclusion; 5.2.2.2 Upstream Open Reading Frames; 5.2.3 Nonstop Decay; 5.2.4 No-Go Decay.
1.3.2 C9orf72 Epigenetic Studies1.3.3 Potential Drivers of Epigenetic Changes; 1.3.4 Therapeutic Potential; References; Chapter 2: Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes; 2.1 Introduction; 2.2 Organization of Human SMN Genes; 2.3 Regulation of SMN Exon 7 Splicing; 2.3.1 In Vivo Selection of Exon 7; 2.3.2 Effect of Terminal Stem Loop 2; 2.3.3 Effect of Intronic Splicing Silencer N1; 2.3.4 Effect of U-Rich Clusters Within Intron 7; 2.3.5 Effect of Long-Distance Interactions Within Intron 7; 2.3.6 Extension of Exon 7 by the Activation of a Cryptic 5'ss.
2.3.7 Role of cis-Elements Within Intron 62.4 Exonization of an Intronic Alu-Element; 2.5 Alternative Splicing of Other SMN Exons; 2.6 Effect of Transcription on Splicing of Various SMN Exons; 2.7 Conclusions; References; Chapter 3: RNA Editing Deficiency in Neurodegeneration; 3.1 Introduction: RNA Editing Overview; 3.1.1 Major CNS RNA Editing Targets; 3.1.1.1 AMPA Receptors; 3.1.1.2 Serotonin Receptors; 3.1.1.3 Voltage Gated Potassium Channels; 3.2 RNA Editing Deficits in Neurodegeneration; 3.2.1 RNA Editing in Chronic Neurodegenerative Diseases; 3.2.2 RNA Editing in Acute Neurodegeneration.
3.3 A ₂!I RNA Editing Dysfunction in Psychiatric Diseases3.4 Brain Cancer; 3.5 Conclusions; References; Chapter 4: RNA Nucleocytoplasmic Transport Defects in Neurodegenerative Diseases; 4.1 Introduction; 4.2 Export of RNA from the Nucleus; 4.2.1 Nuclear Pores Regulate Transport Between the Nucleus and the Cytoplasm; 4.2.2 Exportin-Mediated Export of RNA; 4.2.3 NXF1 Is the Primary Transporter of mRNA; 4.3 Alterations in RNA Export and in Proteins Required for RNA Export Have Been Identified in Neurodegenerative Diseases; 4.3.1 Nuclear Pore Alterations in Neurodegenerative Diseases.
4.3.2 Alterations in the RanGTPase Gradient Have Been Identified in Neurodegenerative Diseases4.3.3 Nuclear mRNA Retention in Neurodegenerative Diseases; 4.4 Conclusions; References; Chapter 5: RNA Degradation in Neurodegenerative Disease; 5.1 Mechanisms to Maintain RNA Stability; 5.1.1 Polyadenylation; 5.1.2 Methylguanine Cap; 5.1.3 Secondary Structure; 5.1.4 Stress Granules; 5.2 Mechanisms of RNA Decay; 5.2.1 RNA Degradation Machinery; 5.2.2 Nonsense-Mediated Decay; 5.2.2.1 Alternative Exon Inclusion and Exclusion; 5.2.2.2 Upstream Open Reading Frames; 5.2.3 Nonstop Decay; 5.2.4 No-Go Decay.