Download or read book Molecular Insights Into N acetylaspartate Metabolism in Canavan Disease written by Yasanandana Supunsiri Wijayasinghe and published by . This book was released on 2014 with total page 123 pages. Available in PDF, EPUB and Kindle. Book excerpt: Canavan disease (CD) is a fatal, childhood neurological disorder with altered N-acetylaspartate (NAA) metabolism. This disease is caused by mutations in the gene that encodes the enzyme aspartoacylase (ASPA) in the brain. The deficiency of aspartoacylase activity leads to the hallmark symptoms of CD. Sixteen different ASPA clinical mutations have been examined for their biophysical properties. Each of these recombinant mutant enzymes was found to have measureable catalytic activity, ranging from 0.3% to 35% of the native enzyme. Many of these mutants show either decreased thermal stability or decreased conformational stability. These results suggest that the loss of catalytic activity of ASPA is at least partially a consequence of decreased protein stability. To study the possible structural defects caused by non-conservative amino acid changes in ASPA, four aspartoacylase mutations have been structurally characterized. The mutant enzymes each have similar overall structures to the native ASPA enzyme, but with varying degrees of alterations that offer explanations for the respective loss of catalytic activity. The loss of van der Waals contacts in the F295S mutation, and the loss of both hydrophobic and hydrogen bonding interactions in the Y231C mutation lead to a local collapse of the hydrophobic core structure contributing to a decrease in protein stability. The E285A mutant structure shows that loss of hydrogen bond interactions with the side chain carboxyl of Glu285 disturbs the active site architecture, leading to altered substrate binding and diminished enzymatic activity. Since many of the ASPA clinical missense mutations were found to have compromised stability, screening of a small molecule library was performed to identify compounds that can potentially bind and stabilize these defective enzymes. Three compounds (Glutathione, Patulin, and Ellagic acid) show significant protection against thermal denaturation of E285A, but they have negligible effect on the native enzyme. Optimization of these compounds, guided by kinetics and structural studies, could lead to drugs that have the potential to reverse the effect of these mutations in Canavan patients. N-acetylaspartate is an enigmatic metabolite whose biological function is yet to be completely defined. In order to understand the physiological role of NAA in the brain and to find a treatment therapy for CD, the NAA biosynthetic enzyme aspartate N-acetyltransferase (AspNAT) was selected for examination. A codon optimized gene of AspNAT (NAT8L) was cloned with different fusion tags to enhance the solubility. The thioredoxin-tagged AspNAT was found to express as a soluble protein with low yield. This enzyme construct was partially purified using Ni affinity chromatography and was found to have N-acetyltransferase activity. Further optimizations are being carried out to obtain sufficient enzyme for biochemical characterization.

Download or read book Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations

Download or read book Inborn Metabolic Diseases written by Jean-Marie Saudubray and published by Springer Nature. This book was released on 2022-06-24 with total page 906 pages. Available in PDF, EPUB and Kindle. Book excerpt: This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers. The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques. Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.

Download or read book Role of Nutrigenomics in Modern day Healthcare and Drug Discovery written by Genevieve Dable-Tupas and published by Elsevier. This book was released on 2022-10-15 with total page 598 pages. Available in PDF, EPUB and Kindle. Book excerpt: Role of Nutrigenomics in Modern-day Healthcare and Drug Discovery presents novel insights into how these tools can be applied in the study of nutrient-gene interaction for the management of certain disease conditions without using synthetic drugs or other treatments that come with side effects. Divided into three parts, Part I presents chapters that give background information of the subject while laying a framework for other chapters to follow. Part II presents chapters that discuss the role of nutrigenomics in healthcare, while Part III presents chapters that discuss the role of nutrigenomics in modern day drug discovery. Written by a global team of experts from key institutions around the world, this book is useful for drug developers, medicinal chemists, public health scientists, molecular biologists, biochemists, toxicologists and food scientists. Provides readers with background information on the role of nutrigenomics in healthcare, with a focus on emerging topics in nutrigenetics and nutrigenomics Presents chapters that discusses the role of nutrigenomics in the modern day drug discovery for the treatment and management of diseases Includes a wide array of definitions, methods, summaries, figures and tables to aid readers with understanding and application

Download or read book Congenital Hereditary and Neonatal Diseases and Abnormalities New Insights for the Healthcare Professional 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 137 pages. Available in PDF, EPUB and Kindle. Book excerpt: Congenital, Hereditary, and Neonatal Diseases and Abnormalities: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyEditions™ eBook that delivers timely, authoritative, and comprehensive information about Congenital, Hereditary, and Neonatal Diseases and Abnormalities. The editors have built Congenital, Hereditary, and Neonatal Diseases and Abnormalities: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Congenital, Hereditary, and Neonatal Diseases and Abnormalities in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Congenital, Hereditary, and Neonatal Diseases and Abnormalities: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Download or read book Myelin Repair At the Crossing Lines of Myelin Biology and Gene Therapy written by Matthias Klugmann and published by Frontiers Media SA. This book was released on 2022-03-08 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Neurology of the Newborn E Book written by Joseph J. Volpe and published by Elsevier Health Sciences. This book was released on 2008-06-11 with total page 1109 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 5th edition of this indispensable resource captures the latest insights in neonatal neurology in a totally engaging, readable manner. World authority Dr. Joseph Volpe has completely revised his masterwork from cover to cover, describing everything from the most up-to-the-minute discoveries in genetics through the latest advances in the diagnosis and management of neurologic disorders. He delivers all the clinical guidance you need to provide today's most effective care for neonates with neurological conditions. Provides comprehensive coverage of neonatal neurology, solely written by the field’s founding expert, Dr. Joseph Volpe - for a masterful, cohesive source of answers to any question that arises in your practice. Focuses on clinical evaluation and management, while also examining the many scientific and technological advances that are revolutionizing neonatal neurology. Organizes disease-focused chapters by affected body region for ease of reference. Offers comprehensive updates from cover to cover to reflect all of the latest scientific and clinical knowledge, from our most current understanding of the genetic underpinnings of neurologic disease, through the most recent neuroimaging advances . . . state-of-the-art guidelines for evaluation, diagnosis, and prognosis . . . and the newest management approaches for every type of neonatal neuropathology. Features a wealth of new, high-quality images that capture the many advances in neonatal neuroimaging, including numerous MR images.

Download or read book The Metabolic Molecular Bases of Inherited Disease written by and published by . This book was released on 2001 with total page 1306 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Motor Disorders written by David S. Younger and published by Rothstein Publishing. This book was released on 2014-10 with total page 1054 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preeminent Neurology text extensively updated/expanded by 70 leading authorities,providing encyclopedic summary of scientific advances/new clinical practices; aiding in evaluation, diagnosis, and treatment of various motor disorders; and giving...

Download or read book Developmental Behavioral Pediatrics written by Heidi M Feldman and published by Elsevier Health Sciences. This book was released on 2022-08-18 with total page 1212 pages. Available in PDF, EPUB and Kindle. Book excerpt: Addressing the major advances in biomedical, psychological, social, and environmental sciences over the past decade, Developmental-Behavioral Pediatrics, 5th Edition, remains the reference of choice for professionals in a wide range of fields, including medicine and health care, education, social service, advocacy, and public policy. This foundational, pioneering resource emphasizes children’s assets and liabilities, not just categorical labels. Comprehensive in scope, it offers information and guidance on normal development and behavior, psychosocial, and biologic influences on development, developmental disorders, neurodevelopmental disabilities, and mental health conditions. It also discusses tools and strategies for diagnosis and management, including new assessments that can be used in telehealth encounters. Offers a highly practical focus, emphasizing clinical approaches to evaluation, counseling, treatment, and ongoing care. Provides new or expanded information on theoretical foundations of human development and behavior; trauma, adverse childhood events, and resilience across the life span; mechanisms of genetic, epigenetic, and neurological conditions; and principles of psychological assessment, including a broad array of evaluation approaches. Discusses management and treatment for developmental and behavioral conditions, spanning common factors, cognitive behavior therapies, rehabilitative services, integrative medicine, and psychopharmacology. Contains up-to-date chapters on celebrating socio-cultural diversity and addressing racism and bias, acute stress and post-traumatic stress disorder in youth, sexuality and variation, and alternatives to restrictive guardianship. Begins each chapter with a colorful vignette that demonstrates the importance of the human dimensions of developmental-behavioral pediatrics. Offers viewpoints from an interdisciplinary team of editors and contributors, representing developmental-behavioral pediatrics, general pediatrics, psychiatry, psychology, occupational and physical therapy, speech-language pathology, and law. Provides the latest drug information in the updated and revised chapters on psychopharmacology. Includes key points boxes, tables, pictures, and diagrams to clarify and enhance the text.

Download or read book Clinical MR Spectroscopy written by Peter B. Barker and published by Cambridge University Press. This book was released on 2010 with total page 275 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covers all MR spectroscopy techniques and their clinical applications in neurological disorders, malignancies and musculoskeletal diseases.

Download or read book Basic Neurochemistry written by R. Wayne Albers and published by Academic Press. This book was released on 2011-11-02 with total page 1121 pages. Available in PDF, EPUB and Kindle. Book excerpt: Basic Neurochemistry, Eighth Edition, is the updated version of the outstanding and comprehensive classic text on neurochemistry. For more than forty years, this text has been the worldwide standard for information on the biochemistry of the nervous system, serving as a resource for postgraduate trainees and teachers in neurology, psychiatry, and basic neuroscience, as well as for medical, graduate, and postgraduate students and instructors in the neurosciences. The text has evolved, as intended, with the science. This new edition continues to cover the basics of neurochemistry as in the earlier editions, along with expanded and additional coverage of new research from intracellular trafficking, stem cells, adult neurogenesis, regeneration, and lipid messengers. It contains expanded coverage of all major neurodegenerative and psychiatric disorders, including the neurochemistry of addiction, pain, and hearing and balance; the neurobiology of learning and memory; sleep; myelin structure, development, and disease; autism; and neuroimmunology. Completely updated text with new authors and material, and many entirely new chapters Over 400 fully revised figures in splendid color 61 chapters covering the range of cellular, molecular and medical neuroscience Translational science boxes emphasizing the connections between basic and clinical neuroscience Companion website at http://elsevierdirect.com/companions/9780123749475

Download or read book Cumulated Index Medicus written by and published by . This book was released on 1995 with total page 1576 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Index Medicus written by and published by . This book was released on 2004 with total page 2036 pages. Available in PDF, EPUB and Kindle. Book excerpt: Vols. for 1963- include as pt. 2 of the Jan. issue: Medical subject headings.

Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.

Download or read book Oxford Textbook of Cognitive Neurology and Dementia written by Masud Husain and published by Oxford University Press. This book was released on 2018-10-29 with total page 513 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume covers the dramatic developments that have occurred in basic neuroscience and clinical research in cognitive neurology and dementia. It is based on the clinical approach to the patient, and provides essential knowledge that is fundamental to clinical practice.

Download or read book Human Pathobiochemistry written by Toshitaka Oohashi and published by Springer. This book was released on 2019-03-13 with total page 349 pages. Available in PDF, EPUB and Kindle. Book excerpt: This textbook uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Graphical diagrams are provided in each chapter for ease of comprehension.