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Author: Derek A. Applegarth
Publisher: CRC Press
ISBN: 9780412549106
Category : Medical
Languages : en
Pages : 480
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Book Description
Many inherited diseases are due to enzyme deficiencies located within the subcellular `organelles'. Such diseases can have devastating effects such as mental impairment, muscle wasting or retarded growth. Early and correct diagnosis is vital so that appropriate care can be given. This book will be the first to provide a comprehensive coverage of these conditions with emphasis both on clinical and laboratory recognition. This unique book provides a compendium of how to recognize organelle diseases and how to confirm their diagnosis using clinical, medical and laboratory procedures. The chapters on basic biology explain the basic function of each organelle and explains how each group of diseases may be caused.
Author: Derek A. Applegarth
Publisher: CRC Press
ISBN: 9780412549106
Category : Medical
Languages : en
Pages : 480
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Book Description
Many inherited diseases are due to enzyme deficiencies located within the subcellular `organelles'. Such diseases can have devastating effects such as mental impairment, muscle wasting or retarded growth. Early and correct diagnosis is vital so that appropriate care can be given. This book will be the first to provide a comprehensive coverage of these conditions with emphasis both on clinical and laboratory recognition. This unique book provides a compendium of how to recognize organelle diseases and how to confirm their diagnosis using clinical, medical and laboratory procedures. The chapters on basic biology explain the basic function of each organelle and explains how each group of diseases may be caused.
Author: Mitsuo Tagaya
Publisher: Springer
ISBN: 9811045674
Category : Science
Languages : en
Pages : 254
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Book Description
This book provides the first comprehensive coverage of the quickly evolving research field of membrane contact sites (MCS). A total of 16 chapters explain their organization and role and unveil the significance of MCS for various diseases. MCS, the intracellular structures where organellar membranes come in close contact with one another, mediate the exchange of proteins, lipids, and ions. Via these functions, MCS are critical for the survival and the growth of the cell. Owing to that central role in the functioning of cells, MCS dysfunctions lead to important defects of human physiology, influence viral and bacterial infection, and cause disease such as inflammation, type II diabetes, neurodegenerative disorders, and cancer. To approach such a multifaceted topic, this volume assembles a series of chapters dealing with the full array of research about MCS and their respective roles for diseases. Most chapters also introduce the history and the state of the art of MCS research, which will initiate discussion points for the respective types of MCS for years to come. This work will appeal to all cell biologists as well as researchers on diseases that are impacted by MCS dysfunction. Additionally, it will stimulate graduate students and postdocs who will energize, drive, and develop the research field in the near future.
Author: G. Bradley Schaefer
Publisher: McGraw Hill Professional
ISBN: 0071819282
Category : Medical
Languages : en
Pages : 385
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Book Description
A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.
Author: J. Gordon Betts
Publisher:
ISBN: 9781947172807
Category :
Languages : en
Pages : 0
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Book Description
Author: Lara Scheherazade Milane
Publisher: CRC Press
ISBN: 1000505936
Category : Science
Languages : en
Pages : 511
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Book Description
We have surpassed the omics era and are truly in the Age of Molecular Therapeutics. The fast-paced development of SARS-CoV-2 vaccines, such as the mRNA vaccines encoding the viral spike protein, demonstrated the need for and capability of molecular therapy and nanotechnology-based solutions for drug delivery. In record speed, the SARS-CoV-2 viral RNA genome was sequenced and shared with the scientific community, allowing the rapid design of molecular therapeutics. The mRNA vaccines exploit the host cell endoplasmic reticulum to produce viral spike proteins for antigen presentation and recognition by the innate and adaptive immune system. Lipid nanoparticles enable the delivery of the fragile, degradation-sensitive nucleic acid payloads. Molecular-based therapeutics and nanotechnology solutions continue to drive the scientific and medical response to the COVID-19 pandemic as new mRNA, DNA, and protein-based vaccines are developed and approved and the emergency use approved vaccines are rapidly manufactured and distributed throughout the globe. The need for molecular therapies and drug delivery solutions is clear, and as these therapies progress and become more specialized there will be important advancements in organelle targeting. For example, using organelle targeting to direct lipid nanoparticles with mRNA payloads to the endoplasmic reticulum would increase the efficacy of mRNA vaccines, reducing the required dose and therefore the biomanufacturing demand. Likewise, improving the delivery of DNA therapeutics to the nucleus would improve efficacy. Organelles and molecules have always been drug targets, but until recently we have not had the tools or capability to design and develop such highly specific therapeutics. Organelle targeting has far-reaching implications. For example, mitochondria are central to both energy production and intrinsic apoptosis. Effectively targeting and manipulating mitochondria has therapeutic applications for diseases such as myopathies, cancer, neurodegeneration, progerias, diabetes, and the natural aging process. The SARS-CoV-2 vaccines that exploit the endoplasmic reticulum (for mRNA vaccines) and the nucleic translational process (DNA vaccines) attest to the need for organelle and molecular therapeutics. This book covers the status, demand, and future of organelle- and molecularly targeted therapeutics that are critical to the advancement of modern medicine. Organelle and molecular targeting is the drug design and drug delivery approach of today and the future; understanding this approach is essential for students, scientists, and clinicians contributing to modern medicine.
Author: Edward Bittar
Publisher: Elsevier
ISBN: 0080531490
Category : Science
Languages : en
Pages : 305
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Book Description
This volume is in two parts. The first contains the remaining chapters on cellular organelles and several chapters relating to organelle disorders. An account of mitochondriopathis is given in the chapter on the mitochondrion rather than in a separate one. The subject matter of this part of the volume shows quite clearly that the interdisciplinary approach to the study of organelles has shed considerable light on the nature of the mechanisms underlying the etiology and pathobiology of many of these disorders. As an example, mutations in the genes encoding integral membrane proteins are found to lead to disturbances in peroxisome assembly. It is also interesting and significant that mistargeting of protein is now thought to be another cause. It will be revealing to see whether mistargeting is the result of mutations in the genes encoding chaperones.The second part of the volume is concerned with the extracellular matrix. It sets out to show that a vast body of new knowledge of the extracellular matrix is available to us. Take for example the integrin family of cell adhesion receptors. It turns out that integrins play a key role not only in adhesion but also in coupling signals to the nucleus via the cytoskeleton. As for fibronectins, they seem to link the matrix with the cytoskeleton by interacting with integrins.Collagen molecules are dealt with in the last two chapters. The boundaries of collagen in disease are defined by drawing a clear line of demarcation between systemic connective tissue disorders (e.g., scleroderma), better known as autoimmune diseases, and the heritable, and the heritable diseases such as osteogenesis imperfect and the Marfan syndrome. This classification takes into account a second group of acquired disorders of collagen forming tissues in which regional fibrosis is the hallmark. Liver cirrhosis and pulmonary fibrosis are prime examples.The decision to place Volumes 2 and 3 before those dealing with cell chemistry was not easily made. It was based on the view that most students will have had an undergraduate course in biochemistry of cell biology or both courses, and that they could go to Volumes 4-7 in which the subject of cell chemistry is covered, and then return to Volumes 2 and 3.
Author: Reinhold G. Herrmann
Publisher: Springer Science & Business Media
ISBN: 3709191386
Category : Science
Languages : en
Pages : 473
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Book Description
The compartmentation of genetic information is a fundamental feature of the eukaryotic cell. The metabolic capacity of a eukaryotic (plant) cell and the steps leading to it are overwhelmingly an endeavour of a joint genetic cooperation between nucleus/cytosol, plastids, and mitochondria. Alter ation of the genetic material in anyone of these compartments or exchange of organelles between species can seriously affect harmoniously balanced growth of an organism. Although the biological significance of this genetic design has been vividly evident since the discovery of non-Mendelian inheritance by Baur and Correns at the beginning of this century, and became indisputable in principle after Renner's work on interspecific nuclear/plastid hybrids (summarized in his classical article in 1934), studies on the genetics of organelles have long suffered from the lack of respectabil ity. Non-Mendelian inheritance was considered a research sideline~ifnot a freak~by most geneticists, which becomes evident when one consults common textbooks. For instance, these have usually impeccable accounts of photosynthetic and respiratory energy conversion in chloroplasts and mitochondria, of metabolism and global circulation of the biological key elements C, N, and S, as well as of the organization, maintenance, and function of nuclear genetic information. In contrast, the heredity and molecular biology of organelles are generally treated as an adjunct, and neither goes as far as to describe the impact of the integrated genetic system.
Author: Lawrence H. Lash
Publisher: Elsevier
ISBN: 1483218619
Category : Science
Languages : en
Pages : 527
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Book Description
Methods in Toxicology, Volume 2: Mitochondrial Dysfunction provides a source of methods, techniques, and experimental approaches for studying the role of abnormal mitochondrial function in cell injury. The book discusses the methods for the preparation and basic functional assessment of mitochondria from liver, kidney, muscle, and brain; the methods for assessing mitochondrial dysfunction in vivo and in intact organs; and the structural aspects of mitochondrial dysfunction are addressed. The text also describes chemical detoxification and metabolism as well as specific metabolic reactions that are especially important targets or indicators of damage. The methods for measurement of alterations in fatty acid and phospholipid metabolism and for the analysis and manipulation of oxidative injury and antioxidant systems are also considered. The book further tackles additional methods on mitochondrial energetics and transport processes; approaches for assessing impaired function of mitochondria; and genetic and developmental aspects of mitochondrial disease and toxicology. The text also looks into mitochondrial DNA synthesis, covalent binding to mitochondrial DNA, DNA repair, and mitochondrial dysfunction in the context of developing individuals and cellular differentiation. Microbiologists, toxicologists, biochemists, and molecular pharmacologists will find the book invaluable.
Author: Edward Bittar
Publisher: Elsevier
ISBN: 0080528791
Category : Science
Languages : en
Pages : 301
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Book Description
The purpose of this volume is to provide a synopsis of present knowledge of the structure, organisation, and function of cellular organelles with an emphasis on the examination of important but unsolved problems, and the directions in which molecular and cell biology are moving. Though designed primarily to meet the needs of the first-year medical student, particularly in schools where the traditional curriculum has been partly or wholly replaced by a multi-disciplinary core curriculum, the mass of information made available here should prove useful to students of biochemistry, physiology, biology, bioengineering, dentistry, and nursing.It is not yet possible to give a complete account of the relations between the organelles of two compartments and of the mechanisms by which some degree of order is maintained in the cell as a whole. However, a new breed of scientists, known as molecular cell biologists, have already contributed in some measure to our understanding of several biological phenomena notably interorganelle communication. Take, for example, intracellular membrane transport: it can now be expressed in terms of the sorting, targeting, and transport of protein from the endoplasmic reticulum to another compartment. This volume contains the first ten chapters on the subject of organelles. The remaining four are in Volume 3, to which sections on organelle disorders and the extracellular matrix have been added.
Author: Stine Helene Falsig Pedersen
Publisher: Springer Nature
ISBN: 3031225953
Category : Science
Languages : en
Pages : 278
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Book Description
This book sheds light on how dysregulated organelle functions contribute to the pathology and progression of human diseases. To offer a broad perspective, they discuss basic, translational, and clinical aspects across scales, from molecules to cells, tissues and organisms. Rather than providing a comprehensive introduction to the field, the authors focus on recent advances in organelle research, with each chapter inviting readers to consider today’s key questions in the respective field. This book reviews the endoplasmic reticulum, Golgi Appartus, Lysosomes and other membrane-enclosed organelles, demonstrating how their dysregulated function contributes to various pathologies. The chapters not only offer a platform for new perspectives but also stimulate further investigations. Given the translational nature of this subject, this book is a valuable resource for physiologists and clinicians alike. Chapter "Lipid Droplets in Cancer" is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
