Polyglutamine Disorders
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| Author | : Clévio Nóbrega |
| Publisher | : Springer |
| Total Pages | : 467 |
| Release | : 2018-02-09 |
| Genre | : Medical |
| ISBN | : 3319717790 |
This book provides a cutting-edge review of polyglutamine disorders. It primarily focuses on two main aspects: (1) the mechanisms underlying the pathologies’ development and progression, and (2) the therapeutic strategies that are currently being explored to stop or delay disease progression. Polyglutamine (polyQ) disorders are a group of inherited neurodegenerative diseases with a fatal outcome that are caused by an abnormal expansion of a coding trinucleotide repeat (CAG), which is then translated in an abnormal protein with an elongated glutamine tract (Q). To date, nine polyQ disorders have been identified and described: dentatorubral-pallidoluysian atrophy (DRPLA); Huntington’s disease (HD); spinal–bulbar muscular atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17). The genetic basis of polyQ disorders is well established and described, and despite important advances that have opened up the possibility of generating genetic models of the disease, the mechanisms that cause neuronal degeneration are still largely unknown and there is currently no treatment available for these disorders. Further, it is believed that the different polyQ may share some mechanisms and pathways contributing to neurodegeneration and disease progression.
| Author | : Peter S. Harper |
| Publisher | : Oxford University Press, USA |
| Total Pages | : 352 |
| Release | : 2001 |
| Genre | : Medical |
| ISBN | : |
This book focuses on the discovery of a common genetic basis for a group of inherited neurological disorders, including Huntington's Disease, spino-bulbar atrophy and a series of hereditary ataxias. This shared molecular background and other similarities have led to the development of theoretical models for the pathogenesis of these diseases. It is now also clear that the mechanisms involved are likely to be of more general relevance, outside of this particular group of disorders, with implications for other neurodegenerative processes such as those involved in Alzheimer's, Parkinson's and Prion diseases. The book is an edited and updated compilation evolving from a Royal Society discussion meeting.
| Author | : Anthony J. Hannan |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 208 |
| Release | : 2013-07-30 |
| Genre | : Medical |
| ISBN | : 1461454344 |
This book addresses the role of tandem repeat polymorphisms (TRPs) in genetic plasticity, evolution, development, biological processes, neural diversity, brain function, dysfunction and disease. There are hundreds of thousands of unique tandem repeats in the human genome and their polymorphic distributions have the potential to greatly influence functional diversity and disease susceptibility. Recent discoveries in this expanding field are critically reviewed and discussed in a range of subsequent chapters, with a focus on the role of TRPs and their various gene products in evolution, development, diverse molecular and cellular processes, brain function and disease.
| Author | : Michael S. Wolfe |
| Publisher | : Academic Press |
| Total Pages | : 561 |
| Release | : 2018-03-29 |
| Genre | : Medical |
| ISBN | : 0128113057 |
The Molecular and Cellular Basis of Neurodegenerative Diseases: Underlying Mechanisms presents the pathology, genetics, biochemistry and cell biology of the major human neurodegenerative diseases, including Alzheimer’s, Parkinson’s, frontotemporal dementia, ALS, Huntington’s, and prion diseases. Edited and authored by internationally recognized leaders in the field, the book's chapters explore their pathogenic commonalities and differences, also including discussions of animal models and prospects for therapeutics. Diseases are presented first, with common mechanisms later. Individual chapters discuss each major neurodegenerative disease, integrating this information to offer multiple molecular and cellular mechanisms that diseases may have in common. This book provides readers with a timely update on this rapidly advancing area of investigation, presenting an invaluable resource for researchers in the field. Covers the spectrum of neurodegenerative diseases and their complex genetic, pathological, biochemical and cellular features Focuses on leading hypotheses regarding the biochemical and cellular dysfunctions that cause neurodegeneration Details features, advantages and limitations of animal models, as well as prospects for therapeutic development Authored by internationally recognized leaders in the field Includes illustrations that help clarify and consolidate complex concepts
| Author | : Weidong Le |
| Publisher | : Springer Nature |
| Total Pages | : 734 |
| Release | : 2020-07-15 |
| Genre | : Medical |
| ISBN | : 9811542724 |
This book consists of 3 volumes: Basic Science (Volume 1), Clinical Science (Volume 2) and Technology and Methodology (Volume 3). Volume 2 focuses on the clinical aspects of autophagy research, discussing the role of autophagy in neuropsychiatric disorders, the cardiovascular, immune, digestive and endocrine systems, as well as tumors, infection, the kidney, and the respiratory and hematological systems. It also addresses autophagy-related drug development. Written and edited by a team of 90 experts, and presenting the state of the art in autophagy research, this book is a valuable reference resource for researchers and clinicians alike. It can also be used as supplementary material for graduate students majoring in biology and medicine
| Author | : Gabor G. Kovacs |
| Publisher | : Cambridge University Press |
| Total Pages | : 320 |
| Release | : 2017-12-13 |
| Genre | : Medical |
| ISBN | : 1316337650 |
This practical guide to the diagnosis of neurodegenerative diseases discusses modern molecular techniques, morphological classification, fundamentals of clinical symptomology, diagnostic pitfalls and immunostaining protocols. It is based on the proteinopathy concept of neurodegenerative disease, which has influenced classification and provides new strategies for therapy. Numerous high-quality images, including histopathology photomicrographs and neuroradiology scans, accompany the description of morphologic alterations and interpretation of immunoreactivities. Diagnostic methods and criteria are placed within recent developments in neuropathology, including the now widespread application of immunohistochemistry. To aid daily practice, the guide includes diagnostic algorithms and offers personal insights from experienced experts in the field. Special focus is given to the way brain tissue should be handled during diagnosis. This is a must-have reference for medical specialists and specialist medical trainees in the fields of pathology, neuropathology and neurology working with neuropathologic features of neurodegenerative diseases.
| Author | : |
| Publisher | : Elsevier |
| Total Pages | : 438 |
| Release | : 2018-01-08 |
| Genre | : Medical |
| ISBN | : 0444632352 |
Genetic methodologies 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 evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. This volume in the Handbook of Clinical Neurology will provide a comprehensive introduction and reference on neurogenetics for the clinical practitioner and the research neurologist. Presents a comprehensive coverage of neurogenetics Details the latest science and impact on our understanding of neurological psychiatric disorders Provides a focused reference for clinical practitioners and the neuroscience/neurogenetics research community
| Author | : Marina Ramirez-Alvarado |
| Publisher | : John Wiley & Sons |
| Total Pages | : 1311 |
| Release | : 2010-12-01 |
| Genre | : Science |
| ISBN | : 1118031814 |
An increasingly aging population will add to the number of individuals suffering from amyloid. Protein Misfolding Diseases provides a systematic overview of the current and emerging therapies for these types of protein misfolding diseases, including Alzheimer's, Parkinson's, and Mad Cow. The book emphasizes therapeutics in an amyloid disease context to help students, faculty, scientific researchers, and doctors working with protein misfolding diseases bridge the gap between basic science and pharmaceutical applications to protein misfolding disease.
| Author | : Nagehan Ersoy Tunalı |
| Publisher | : BoD – Books on Demand |
| Total Pages | : 180 |
| Release | : 2021-01-20 |
| Genre | : Science |
| ISBN | : 1838801499 |
Neurodegenerative diseases represent a very large group of heterogeneous disorders affecting specific subtypes of neurons in the brain. This book contributes insight both to the awareness of the brain and its neurodegenerative states. The chapters present current knowledge regarding genetics, molecular mechanisms, and new therapeutic strategies against neurodegenerative disorders. The book is intended to serve as a source to aid clinicians and researchers in the field, and also life science readers to increase their understanding and awareness of the clinical correlations, genetic aspects, neuropathological findings, and current therapeutic interventions in neurodegenerative diseases. I believe that this book will enlighten the curiosity for neurodegeneration and also encourage researchers to work on potentially effective molecular therapies for still mysterious neurodegenerative disorders.
| Author | : Hidehiro Mizusawa |
| Publisher | : Springer Nature |
| Total Pages | : 543 |
| Release | : 2021-11-10 |
| Genre | : Medical |
| ISBN | : 3030758176 |
Based on the 75th Fujihara Seminar held in December 2018 in Tokyo, Japan, this volume explores the latest research on the cerebellum. Contributors seek to examine the cerebellum's role as a unique hub for brain activity and discover new information about its purpose. The discussion is broad, ranging from evolutionary topics to therapeutic strategy and addresses both physiology and pathology. Subjects covered include anatomy, information processing, complex spikes, plasticity, modeling, and spinocerebellar ataxias. The volume is intended to set the stage for the future of cerebellar research and guide both basic and clinical researchers.
