Alternative Splicing and Disease

Elias Massey (Editor)

Series: Genetics – Research and Issues
BISAC: MED107000

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Alternative splicing (AS) is a fundamental mechanism of gene expression regulation that extremely expands the coding potential of genomes and the cellular transcriptomic and proteomic diversity. This dynamic and finely-tuned machinery is particularly widespread in the nervous system and is critical for both neuronal development and functions. Alternative splicing defects, therefore, frequently underlie neurological disorders. In the first chapter of this book, the authors focus on Parkinson’s disease (PD), the second most common neurodegenerative disorder worldwide.

They provide a current overview on the impact of alternative splicing in PD by representing the multiple splicing transcripts produced from the major PD-linked genes and their regulation in PD states; review the studies describing global splicing expression changes revealed by whole-genome transcriptomic approaches; and summarize the current knowledge about the alternative splicing modulation in PD through non-coding RNAs (miRNA and lcnRNA) molecules. The following chapter reviews tau alternative splicing in Alzheimer’s disease. Chapter three examines the role of splicing factors in cancer prognosis and treatment. The last chapter studies nonsense-mediated decay and human disease.
(Imprint: Nova Biomedical)

Preface
pp. vii-x

Chapter 1
Alternative Splicing and Neurological Disorders: Focus on Parkinson’s Disease
(Velia D’Agata, Valentina La Cognata, and Sebastiano Cavallaro, Department of Biomedical and Biotechnological Sciences, Section of Human Anatomy and Histology, University of Catania, Italy, and others)
pp. 1-38

Chapter 2
Tau Alternative Splicing in Alzheimer’s Disease
(Gonzalo Emiliano Aranda-Abreu, María Elena Hernández Aguilar, Fausto Rojas Durán, Sonia Lilia Mestizo Gutiérrez and Jorge Manzo Denes, Universidad Veracruzana/Centro de Investigaciones Cerebrales, Xalapa Veracruz, Mexico)
pp. 39-50

Chapter 3
The Role of Splicing Factors in Cancer Prognosis and Treatment
(Rebeca Martínez-Contreras and Nancy Martínez-Montiel, Molecular and Microbial Ecology Lab, Center of Research on Microbiological Sciences, Science Institute, Benemérita Universidad Autónoma de Puebla, Mexico)
pp. 51-82

Chapter 4
Nonsense-Mediated Decay and Human Disease
(Nancy Martínez-Montiel and Rebeca Martínez-Contreras, Molecular and Microbial Ecology Lab, Center of Research on Microbiological Sciences, Science Institute, Benemérita Universidad Autónoma de Puebla, Mexico)
pp. 83-108

Index
pp. 109-118

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