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Multifaceted Genes In Amyotrophic Lateral Sclerosis Frontotemporal Dementia
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Book Synopsis Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia by : Henry Houlden
Download or read book Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia written by Henry Houlden and published by Frontiers Media SA. This book was released on 2021-06-28 with total page 141 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis: Genetics, Clinical and Pathological Features, and Disease Mechanisms by : Annakaisa Haapasalo
Download or read book Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis: Genetics, Clinical and Pathological Features, and Disease Mechanisms written by Annakaisa Haapasalo and published by Frontiers Media SA. This book was released on 2021-12-03 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis THE GENETIC BASIS OF FRONTOTEMPORAL DEMENTIA, AMYOTROPHIC LATERAL SCLEROSIS AND CYSTIC FIBROSIS by : Frederico Simu00f5es Couto
Download or read book THE GENETIC BASIS OF FRONTOTEMPORAL DEMENTIA, AMYOTROPHIC LATERAL SCLEROSIS AND CYSTIC FIBROSIS written by Frederico Simu00f5es Couto and published by . This book was released on 2017 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Objectives:Non-systematic literature review on the eventual relationship between frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS) and cystic fibrosis (CF).Background:The literature suggests that FTD and ALS share a common genetic background. A positive family history is present in about 30% of patients with FTD and in 5% of those with ALS.The authors report and discuss the clinical case of a 59-years-old male patient diagnosed with a behavior variant of FTD and ALS, who have a family history of dementia of unknown etiology in his mother and CF diagnosed in his daughter.Materials and Methods:The research strategy on the Pubmed database considered the keywords u201cfrontotemporal dementiau201d, u201camyotrophic lateral sclerosisu201d and u201ccystic fibrosisu201d. The selection of the articles was based on critical appraisal of the literature published between 2014 and 2019. Results and Conclusions:The most common genetic findings in patients with DFT and ALS are in C9ORF72 gene, and less frequently in the TARDBP and FUS/TLS genes. Although the relation between DFT with ALS and CF is not described, some authors suggest a common pathway between ALS and CF through the presence of modifications on TDP-43 protein that is encoded by the mutated TARDBP gene. Interestingly, the genetic study performed did not reveal any mutation in the studied genes, including the TARDBP one.Not all genetic findings involved in FTD, ALS and CF are identified and the relationship between those entities should be clarified. To the best of our knowledge, this is the first clinical case that considers this eventual genetic association.
Book Synopsis Assessing the Genetic Overlap in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia by : Oriol Dols Icardo
Download or read book Assessing the Genetic Overlap in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia written by Oriol Dols Icardo and published by . This book was released on 2018 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: There are overwhelming evidences that amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum. The C9orf72 repeat expansion is the most common genetic defect among ALS/FTD patients. Besides, the use of next generation sequencing technologies has launched a new era in the study of human diseases. These approaches have unraveled an unprecedented amount of genes associated with both ALS and FTD. This work focuses on the study of the genetic overlap in the ALS/FTD spectrum. In this context, we have studied the C9orf72 expansion mutation in ALS and FTD patients. Also, we have assessed the role of CHCHD10 and TUBA4A, two genes recently found to cause ALS, in Spanish patients with ALS and/or FTD. Finally, we have performed whole-exome sequencing in ALS/FTD patients without the C9orf72 expansion mutation to study the genetic profile of these cases free from the most common genetic defect related to these neurodegenerative disorders.
Book Synopsis Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias by : Michael J. Strong
Download or read book Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias written by Michael J. Strong and published by Oxford University Press. This book was released on 2012-10-11 with total page 426 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book summarizes the advances in our understanding of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), as well as the potential relationship between the two.
Book Synopsis RNA Dysregulation in Models of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis by : Jack Humphrey
Download or read book RNA Dysregulation in Models of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis written by Jack Humphrey and published by . This book was released on 2019 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal dementia (FTD) are two rare but devastating neurodegenerative diseases that share pathological features and genetic factors. A central question in both diseases is the role of the RNA-binding proteins transactive response DNA-binding protein 43kDa (TDP-43) and fused in sarcoma (FUS). These proteins play a vital role in RNA regulation in all cells but in diseased neurons they alter their cellular localisation to form potentially pathogenic aggregates. This process can be linked to rare genetic mutations in the TARDBP and FUS genes, although most cases of ALS and FTD have no known genetic cause. My work uses the revolutionary technology of RNA sequencing to measure and compare gene expression and RNA splicing in different cellular and animal models of sporadic and genetic disease. Here I present the results of four studies that investigate the biology of TDP-43 and FUS, assessing both their normal cellular roles and the impact of rare disease-causing mutations. In these projects I analyse RNA sequencing data to discover novel gene expression and RNA splicing phenomena. This includes the repression of cryptic splicing by TDP-43 but not FUS, the progressive downregulation of mitochondrial and ribosomal transcripts in a mouse model of FUS ALS, a gain of splicing function by TDP-43 mutations affecting constitutive exon splicing, and widespread changes in intron retention caused by FUS knockout or aggressive FUS mutations. I also discover a novel mechanism for how FUS might regulate its own translation. This work expands on what is currently known about the roles in RNA regulation for TDP- 43 and FUS and provides new avenues for understanding both the causes and progression of ALS and FTD.
Book Synopsis Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia and the Potential for Discovering New Genes and Pathways Underlying These Neurological Disorders by : Yevgeniya Abramzon
Download or read book Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia and the Potential for Discovering New Genes and Pathways Underlying These Neurological Disorders written by Yevgeniya Abramzon and published by . This book was released on 2022 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Genetic Characterization of Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis in the Nordic Countries by :
Download or read book Genetic Characterization of Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis in the Nordic Countries written by and published by . This book was released on 2012 with total page 39 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Screening for Mutations in the Genes VCP and KIAA0196 in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis by : Katharina Timmer
Download or read book Screening for Mutations in the Genes VCP and KIAA0196 in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis written by Katharina Timmer and published by . This book was released on 2016 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Pathophysiological Mechanisms Involved in Amyotrophic Lateral Sclerosis Caused by Mutations in the FUS Gene by : Inmaculada Sanjuan Ruiz
Download or read book Pathophysiological Mechanisms Involved in Amyotrophic Lateral Sclerosis Caused by Mutations in the FUS Gene written by Inmaculada Sanjuan Ruiz and published by . This book was released on 2019 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two untreatable neurodegenerative diseases. Even thought they are two distinctive diseases, they share a series of clinical, genetic and histological hallmarks, thus defining the ALS-FTD continuum. Mutations in the FUS gene have been linked with ALS, whereas alterations in FUS proteins have been detected in FTD patients. Both diseases are characterized by the presence of cytosolic FUS aggregates.We have studied the autoregulation mechanisms of FUS in a mouse model via de activation of an alternative splicing pathway by the insertion of a human wild-type FUS transgene, which has allowed us to potentially elucidate new therapeutic approaches by gene therapy. Furthermore, our mice develop FTD-like symptoms. Our results suggest an alteration in cortical synapses which could originate the observed cognitive and behavioural deficits, accompanied by alterations in the cholinergic system.
Book Synopsis Molecular Mechanisms of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia by : Yulong Sun
Download or read book Molecular Mechanisms of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia written by Yulong Sun and published by . This book was released on 2018 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in modern medicine in the past century have dramatically improved the average life expectancy in the western world. Unfortunately, the molecular mechanisms that maintain the integrity of proteins in the body appear to be unable to keep pace. This has led to a growing prevalence of late-onset diseases involving abnormal accumulation of proteins, especially in the last century. The increase in occurrence of neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), Parkinson's disease (PD), and transmissible spongiform encephalopathies such as prion disease, has become a great burden to the healthcare system. All of these diseases are currently incurable and fatal, but they share the common hallmark of misfolding and aggregation of proteins within the effected neurons. The discovery and characterization of such proteins have often led to the identification of potential targets for treatment and drug design. In the case of ALS, progressive death of upper and lower motor neurons leads to full-body paralysis, and patient death from respiratory failure. The cause of ALS is currently unknown, but remarkably, regardless of the type of ALS (familial or sporadic), the RNA binding protein, TDP-43, is found in 97% of cases as neuronal inclusions, suggesting a mechanistic role in disease pathogenesis. In this thesis, several techniques are used to enable detailed biophysical characterization the TDP-43 aggregation process in solution and in model membranless organelles. Equilibrium turbidity measurements of the protein under aggregating conditions and the inhibitory effects of native-state stabilizing oligonucleotides on aggregation are presented. The modulatory effects of physiological concentrations of electrolytes on TDP-43 aggregation and their implications are also discussed. A novel technique called spatially targeted optical microproteomics (STOMP) is presented as a method to interrogate the proteomic contents of small cellular features in mammalian tissue in hope of identifying common proteins in neuronal inclusions and stress granules. Although the STOMP technique still requires refinement, the biophysical studies on TDP-43 presented here begin to unravel the complex and largely unknown etiology of what is currently a devastating and incurable disease.
Book Synopsis The Role of TBK1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia by : Alaa Doubi
Download or read book The Role of TBK1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia written by Alaa Doubi and published by . This book was released on 2021 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Motor Neurone Disease written by and published by Elsevier. This book was released on 2024-05-29 with total page 550 pages. Available in PDF, EPUB and Kindle. Book excerpt: International Review in Neurobiology serial highlights new advances in the field with this new volume presenting interesting chapters. Each chapter is written by an international board of authors. - Provides the authority and expertise of leading contributors from an international board of authors - Presents the latest release in International Review on Neurobiology series - Updated release includes the latest information on Motor Neuron Disease
Book Synopsis Pulmonary Complications of Neuromuscular Disease by : Noah Lechtzin
Download or read book Pulmonary Complications of Neuromuscular Disease written by Noah Lechtzin and published by Springer Nature. This book was released on with total page 389 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Protein-Protein Interactions by : Krishna Mohan Poluri
Download or read book Protein-Protein Interactions written by Krishna Mohan Poluri and published by Springer Nature. This book was released on 2023-08-17 with total page 441 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second volume of the book-Protein-Protein Interactions (PPIs) provides an overview of various protein-protein interactions (PPIs) that are involved in various human diseases including cancer, neurodegenerative diseases, immune diseases, and inflammation. It summarizes the structure and ligand-based drug designing approaches for the discovery of small molecules that can inhibit PPIs in these diseases. The book discusses different computational and experimental tools that are used to determine the anomalous interactions underlying the diseases. Lastly, it also reviews the classical interactions between pathogens and hosts that are responsible for the pathophysiology of infectious diseases.
Book Synopsis A Tribute to Paul Greengard (1925-2019) by :
Download or read book A Tribute to Paul Greengard (1925-2019) written by and published by Academic Press. This book was released on 2021-03-09 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Tribute to Paul Greengard, Volume 90, the latest release in the Advances in Pharmacology series presents a variety of chapters from the best authors in the field, with this release presenting a tribute to Paul Greengard. - Includes the authority and expertise of leading contributors in pharmacology - Presents the latest release in the Advances in Pharmacology series
Book Synopsis Palliative Care in Amyotrophic Lateral Sclerosis by : David Oliver
Download or read book Palliative Care in Amyotrophic Lateral Sclerosis written by David Oliver and published by OUP Oxford. This book was released on 2014-03-20 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Amytrophic Lateral Sclerosis (ALS or motor neurone disease) is a progressive neurodegenerative disease that can cause profound suffering for both the patient and their family. Whilst new treatments for ALS are being developed, these are not curative and offer only the potential to slow its progression. Palliative care must therefore be integral to the clinical approach to the disease. Palliative Care in Amyotrophic Lateral Sclerosis: From diagnosis to bereavement reflects the wide scope of this care; it must cover not just the terminal phase, but support the patient and their family from the onset of the disease. Both the multidisciplinary palliative care team and the neurology team are essential in providing a high standard of care and allowing quality of life (both patient and carer) to be maintained. Clear guidelines are provided to address care throughout the disease process. Control of symptoms is covered alongside the psychosocial care of patients and their families. Case studies are used to emphasise the complexity of the care needs and involvement of the patient and family, culminating in discussion of bereavement. Different models of care are explored, and this new edition utilizes the increase in both the evidence-base and available literature on the subject. New topics discussed include complementary therapies, personal and family experiences of ALS, new genetics research, and updated guidelines for patient care, to ensure this new edition remains the essential guide to palliative care in ALS.
