Search Results for alternative-splicing-and-disease

Splicing of primary RNA transcript is a quasi-systematic step of gene expression in higher organisms. This is the first book to highlight the medical implications, i.e. diseases, caused by alternative splicing.

Author: Philippe Jeanteur

Publisher: Springer Science & Business Media

ISBN: 9783540344490

Category: Science

Page: 257

View: 600

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Splicing of primary RNA transcript is a quasi-systematic step of gene expression in higher organisms. This is the first book to highlight the medical implications, i.e. diseases, caused by alternative splicing. Alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences. The book also outlines possible targets for therapy.
2006-10-04 By Philippe Jeanteur

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ISBN: OCLC:500336574

Category:

Page: 4

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2003 By

Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject.

Author: Rosanna Asselta

Publisher: Frontiers Media SA

ISBN: 9782889662357

Category: Science

Page:

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2020-12-24 By Rosanna Asselta

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.

Author: Elias Massey

Publisher:

ISBN: 1634842669

Category:

Page: 90

View: 960

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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 Parkinsons 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 summarise 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.
2016-01-01 By Elias Massey

Purpose: Alternative splicing is responsible for producing several products from a single transcript and can cause pathogenic changes in RNA in neurodegenerative disease.

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ISBN: OCLC:318693502

Category:

Page: 65

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Purpose: Alternative splicing is responsible for producing several products from a single transcript and can cause pathogenic changes in RNA in neurodegenerative disease. This proposal tests the hypothesis that regulation of normal splicing is disrupted in Parkinson's disease (PD). Scope: Experiments determined splicing products in the brain and blood of experimental MPTP models of PD. The overall goal was to use splice variants as biomarkers to identify individuals at risk for PD. To date we have identified and quantified alternatively spliced transcripts for several candidate genes in MPTP models of PD. We also had lRB permission (for only 9 months) to study splicing factors in the blood of PD patients. Major Findings: Mice treated acutely and chronically with MPTP show a shift in the ratio of FosB RGS9 AChe and Ania6 splice variants in the striatum and blood. Gene expression (in situ hybridization) studies have demonstrated that AChE variant R is upregulated in the striatum and blood after MPTP. No patients were enrolled for th ehuman blood study and that study is closedOverall we have published four articles and have three in preparation.
2008 By

CHAPTER 13 Alternative Splicing in Disease James P. Orengo and Thomas A. Cooper * Abstract lternative splicing is a major source of diversity in the human proteome . The regulation of alternative splicing modulates the composition of ...

Author: Benjamin J. Blencowe

Publisher: Springer Science & Business Media

ISBN: 0387773738

Category: Medical

Page: 228

View: 272

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Yet again Springer has reached the market before everyone. This is the first book that is solely dedicated to the topic of alternative splicing. The book contains chapters by experts in the field that cover nearly all aspects of this hugely important subject. The purpose of the text is to provide a single, authoritative source of information on alternative splicing that is accessible to researchers in diverse fields. It is suitable for beginners and experts alike.
2008-01-23 By Benjamin J. Blencowe

Author: Amit Berson

Publisher:

ISBN: OCLC:782047477

Category:

Page: 176

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2011 By Amit Berson

Over five million adults over the age of 65 currently suffer from Alzheimer's disease (AD), a debilitating disease with no cure.

Author: Daniella Brutman

Publisher:

ISBN: OCLC:781635173

Category: Alzheimer's disease

Page: 53

View: 616

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Over five million adults over the age of 65 currently suffer from Alzheimer's disease (AD), a debilitating disease with no cure. Early diagnosis of AD allows for an increased ability to manage the disease, but diagnosis is limited by a lack of reliable AD biomarkers. While there is no singular cause, research has linked an isoform of ApoE to early onset AD, but recently more attention has been placed upon one of ApoE's receptors, ApoER2. Like most genes, ApoER2 undergoes multiple alternative splicing events to create distinct mRNA isoforms. One Splicing event, exon 18 inclusion vs. skipping, creates two isoforms with opposing functions in reelin signaling, synaptic plasticity, and memory functions. We hypothesize that ApoER2 alternative splicing correlates with AD progression. Using cellular and animal models, and human samples, we found a disease state association between increasing AD severity and increased ApoER2 exon 18 skipping. We conclude that ApoER2 may play a role in regulating a pathway that is deregulated in AD.

Author: Gillian Lucinda Patman

Publisher:

ISBN: OCLC:1063945112

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Page:

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This Research Topic addresses the human diseases caused by a malfunction of the RNA metabolism. We aim at strengthening the link between fundamental research and therapeutic applications. In eukaryotes, RNA is transcribed from genomic DNA.

Author: Naoyuki Kataoka

Publisher: Frontiers Media SA

ISBN: 9782889630974

Category:

Page:

View: 231

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This Research Topic addresses the human diseases caused by a malfunction of the RNA metabolism. We aim at strengthening the link between fundamental research and therapeutic applications. In eukaryotes, RNA is transcribed from genomic DNA. RNA molecules undergo multiple post-transcriptional processes such as splicing, editing, modification, translation, and degradation. A defect, mis-regulation, or malfunction of these processes often results in diseases in humans, referred to as 'RNA diseases'. There is an increasing number of studies focused on RNA diseases, which are aimed at uncovering the fundamental molecular mechanisms at play in order to develop therapeutic approaches.
2019-10-15 By Naoyuki Kataoka