Study Of Molecules With Nonsense Mutation Correction Capacity
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Study Of Molecules With Nonsense Mutation Correction Capacity
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Author : Jieshuang Jia
language : en
Publisher:
Release Date : 2015
Study Of Molecules With Nonsense Mutation Correction Capacity written by Jieshuang Jia and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015 with categories.
Nonsense mutations represent approximately 10% of mutations found in the inherited geneticdiseases. mRNAs harboring a nonsense mutation are rapidly degraded by a quality-controlmechanism called nonsense-mediated mRNA decay (NMD) to prevent the synthesis of toxic or nonfunctionaltruncated proteins. Some stratégies have been developed to correct nonsense mutations.In our lab, we study 2 of them which are (i) the NMD inhibition and (ii) the PTC-readthroughactivation which is a mechanism leading to the incorporation of an amino-acid at the PTC position. Todesign new therapeutic tools for the inherited genetic diseases, our lab tested molecules byscreening to find ones with the capacity of NMD inhibition. For each molecules selected in thescreen, we measure the efficiency of NMD inhibition and PTC-readthrough activation of thesemolecules in cell lines harboring a nonsense mutation. We have shown that amlexanox not onlyinhibits NMD but also activâtes PTC readthrough. But the efficacy of amlexanox is still low. Wewanted to find other families of molecules capable of rescuing the expression of nonsense mutationcontainingmRNA with a higher efficacy or with some specificity. In my study, I found two spécialfamilies, one is the family of apoptosis inducers and the other is the family of cytoskeleton inhibitors.I found that apoptosis inducers can inhibit NMD by activating caspase pathway and cleave NMDfactors (UPF1 and UPF2). I also found that cytoskeleton inhibitors can inhibit NMD and some of themcan activate PTC-readthrough by inducing NMD factors (UPF1 or/and UPF3X) to concentrate in Pbodiesor in other cytoplasmic foci. The efficiencies of these molecules on NMD inhibition are similaror higher than amlexanox. Apoptosis inducers and cytoskeleton inhibitors demonstrated thatmolecules which can inhibit NMD or/and activate PTC-readthrough can be found and candemonstrate a higher correction of nonsense mutation efficiency than the existing molecules(ataluren or amlexanox for example).
Nonsense Mutation Correction In Human Diseases
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Author : Fabrice Lejeune
language : en
Publisher: Academic Press
Release Date : 2016-02-26
Nonsense Mutation Correction In Human Diseases written by Fabrice Lejeune and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-02-26 with Science categories.
Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of nonsense mutations, the consequences of a nonsense mutation for the expression of the mutant gene, and the presentation of the nonsense-mediated mRNA decay (NMD). It presents the mechanism of action and rationale associated with each strategy to correct nonsense mutations with the results of clinical trials to further support this basis. In addition, the book shows how it may be possible to combine several of these strategies to ultimately improve the efficiency of correction, also suggesting the future goals and objectives to improve treatment modalities in this evolving sphere of personalized medicine. Features basic biological and clinical constructs that inform the application of genomic data to clinical decision-making Includes theories and methods that can be used to link bio-molecular and clinical phenotypes so as to enable integrative hypothesis discovery, testing, and downstream evidence-based practice Provides design patterns and use cases that contextualize the clinical decision-making and evidence-based practice relative to real world requirements and stakeholders
Cystic Fibrosis In The Light Of New Research
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Author : Dennis Wat
language : en
Publisher: BoD – Books on Demand
Release Date : 2015-08-24
Cystic Fibrosis In The Light Of New Research written by Dennis Wat and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-08-24 with Medical categories.
Cystic Fibrosis in the Light of New Research provides the latest research and clinical evidence that will be useful for clinicians, scientists and researchers to further their knowledge around this fascinating condition. The authors have brought along their expertise and wealth of knowledge to produce this book, including the basic science that underlies the disease, the burden of bacterial and viral infections, immunologic aspects of CF, a variety of clinical measurements to predict prognosis and novel therapies including gene therapy. This book will be invaluable and entertaining for anyone who is involved in the care of patients with cystic fibrosis.
Neurogenetics
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Author :
language : en
Publisher: Elsevier
Release Date : 2018-01-09
Neurogenetics written by and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-01-09 with Medical categories.
Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. Contains comprehensive coverage of neurogenetics Details the latest science and its impact on our understanding of neurological, psychiatric disorders Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community
Thompson Thompson Genetics In Medicine E Book
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Author : Robert L. Nussbaum
language : en
Publisher: Elsevier Health Sciences
Release Date : 2015-04-28
Thompson Thompson Genetics In Medicine E Book written by Robert L. Nussbaum and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-04-28 with Medical categories.
Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in Medicine returns as one of the most favored texts in this fascinating and rapidly evolving field. By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help you understand a wide range of genetic disorders. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. Immerse yourself in updated graphics, full-color text, illustrations, line diagrams, and clinical photos of genetic diseases. Explore the latest genetic content available in order to remain up to date on the most current trends in the field. Take advantage of a double-page clinical case study section that demonstrates and reinforces general principles of disease inheritance, pathogenesis, diagnosis, management, and counseling. Enhance your critical thinking skills and better retain information. Each chapter ends with up to 5 quick genetic "problems" related to what has just been reviewed, with answers provided in the back of the book.
Human Gene Mutation
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Author : David N. Cooper
language : en
Publisher: Taylor & Francis
Release Date : 1995
Human Gene Mutation written by David N. Cooper and has been published by Taylor & Francis this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995 with Science categories.
Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.
Molecular Epidemiology
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Author : Paul A. Schulte
language : en
Publisher: Academic Press
Release Date : 2012-12-02
Molecular Epidemiology written by Paul A. Schulte and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-02 with Medical categories.
This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.
Lewin S Essential Genes
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Author : Benjamin Lewin
language : en
Publisher: Jones & Bartlett Publishers
Release Date : 2011-04-18
Lewin S Essential Genes written by Benjamin Lewin and has been published by Jones & Bartlett Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-04-18 with Science categories.
The Second Edition of Lewin's Essential GENES continues to provide students with the latest findings in the field of molecular biology and molecular genetics. An exceptional new pedagogy enhances student learning and helps readers understand and retain key material like never before. New Concept and Reasoning Checks at the end of each chapter section, End of Chapter Questions and Further Readings for each chapter, and several categories of special topics boxes within each chapter expand and reinforce important concepts. The reorganization of topics in this edition allows students to focus more sharply on the key material at hand and improves the natural flow of course material. New end-of-chapter questions reviews major points in the chapter and allow students to test themselves on important course material. Important Notice: The digital edition of this book is missing some of the images or content found in the physical edition.
Cystic Fibrosis
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Author : Prashant Mohite
language : en
Publisher: BoD – Books on Demand
Release Date : 2021-06-09
Cystic Fibrosis written by Prashant Mohite and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-06-09 with Medical categories.
Cystic fibrosis, a genetic disorder in children and young adults, is a multisystemic disease that mainly affects the lungs. Advances and improvements in the diagnosis and management of this condition have led to increased overall and symptom-free survival in cystic fibrosis patients. This book examines recent advances in the field and presents an evidence-based approach to the management of cystic fibrosis.
Molecular Cellular And Model Organism Approaches For Understanding The Basis Of Neurological Disease
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Author : Robert J. Harvey
language : en
Publisher: Frontiers Media SA
Release Date : 2017-07-05
Molecular Cellular And Model Organism Approaches For Understanding The Basis Of Neurological Disease written by Robert J. Harvey and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-07-05 with Electronic book categories.
The advent of next-generation sequencing technologies has resulted in a remarkable increase our understanding of human and animal neurological disorders through the identification of disease causing or protective sequence variants. However, in many cases, robust disease models are required to understand how changes at the DNA, RNA or protein level affect neuronal and synaptic function, or key signalling pathways. In turn, these models may enable understanding of key disease processes and the identification of new targets for the medicines of the future. This e-book contains original research papers and reviews that highlight either the impact of next-generation sequencing in the understanding of neurological disorders, or utilise molecular, cellular, and whole-organism models to validate disease-causing or protective sequence variants.