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Neuromuscular diseases --- peptides --- cell membranes --- Permeability --- Protein metabolism disorders --- Nervous system --- Toxins
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Abnormal proteins are known to be associated with various pathologies. Most notably, these include amyloidoses, monoclonal protein deposits associated with plasma cell dyscrasia/multiple myeloma, cryoglobulins and various related organized and non-organized deposits. Amyloid and Related Disorders presents an overview of the most recent developments in this area including clinical presentation, etiology, pathogenesis, and differential diagnosis. The rationale for various therapies, including transplantation, is discussed and tissue diagnosis (its pitfalls and strategies for avoiding them) and laboratory support are included. The involvement of all major organ systems including renal/genitourinary, cardiac, gastrointestinal, pulmonary, peripheral nerve/central nervous system, soft tissue and bone marrow pathology is covered. This approach provides a unifying concept of these pathologic processes, which have systemic involvement, and which have, hitherto, not been universally appreciated. Awareness of these diseases among a wider audience of pathologists may increase the rate of their diagnosis as well as that of earlier diagnosis. This volume will be invaluable to specialized and general pathologists as well as cytopathologists; other medical professionals may also benefit from this concise update on the systemic amyloidoses.
Amyloidosis. --- Multiprotein Complexes --- Proteostasis Deficiencies --- Proteins --- Amino Acids, Peptides, and Proteins --- Macromolecular Substances --- Metabolic Diseases --- Nutritional and Metabolic Diseases --- Chemicals and Drugs --- Diseases --- Amyloidosis --- Amyloid --- Medicine --- Health & Biological Sciences --- Pathology --- Metabolism --- Disorders. --- Protein metabolism disorders --- Amyloid degeneration --- Medicine. --- Internal medicine. --- Nephrology. --- Pathology. --- Medicine & Public Health. --- Internal Medicine. --- Lymphoproliferative disorders --- Disorders --- Medicine, Internal --- Internal medicine --- Kidneys --- Disease (Pathology) --- Medical sciences --- Medicine, Preventive
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Protein Conformation. --- Protein Denaturation. --- Protein Folding. --- Structure-Activity Relationship. --- Proteins --- Protéines --- Pathophysiology. --- Structure-activity relationships. --- Metabolism --- Disorders. --- Physiopathologie --- Pathophysiology --- Structure-activity relationships --- Disorders --- Protéines --- Protein Conformation --- Protein Denaturation --- Protein Folding --- Structure-Activity Relationship --- 577.122 --- 577.122 Protein metabolism --- Protein metabolism --- Relationship, Structure-Activity --- Relationships, Structure-Activity --- Structure Activity Relationship --- Structure-Activity Relationships --- Protein Folding, Globular --- Folding, Globular Protein --- Folding, Protein --- Foldings, Globular Protein --- Foldings, Protein --- Globular Protein Folding --- Globular Protein Foldings --- Protein Foldings --- Protein Foldings, Globular --- Proteostasis --- Protein Multimerization --- Intrinsically Disordered Proteins --- Denaturation, Protein --- Denaturations, Protein --- Protein Denaturations --- Conformation, Protein --- Conformations, Protein --- Protein Conformations --- Proteids --- Biomolecules --- Polypeptides --- Proteomics --- Metabolism&delete& --- Protein metabolism disorders --- Proteins - Pathophysiology --- Proteins - Structure-activity relationships --- Proteins - Metabolism - Disorders
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This volume of the Subcellular Biochemistry series is devoted to the aggregation and fibrillogenesis of the amyloid-forming peptides and proteins, including emphasis on oligomer formation as well as fibril formation. The diverse topics included here are presented within 22 chapters, covering many of the relevant topics from both a basic science and clinical perspective. The authorship of these chapters is thoroughly international, with authoritative contributions from active researchers. Fundamental structural and cellular studies using many different technical approaches are presented, leading through to clinical and therapeutic aspects of the amyloid diseases, considered from both pharmaceutical and natural product view points. It is hoped that this book will be of use to both biomedical scientists and clinicians wishing to keep abreast of this rapidly advancing field, of direct importance to the understanding of cerebral neurodegenerative disease and systemic amyloid disease.
Amyloid. --- Amyloidosis -- Diagnosis. --- Amyloidosis -- Treatment. --- Amyloidosis. --- Amyloid beta-protein --- Aggregation (Chemistry) --- Amyloidosis --- Proteins --- Proteostasis Deficiencies --- Biophysical Processes --- Multiprotein Complexes --- Pathological Conditions, Anatomical --- Biochemical Processes --- Cell Movement --- Physical Processes --- Metabolic Diseases --- Cell Physiological Processes --- Amino Acids, Peptides, and Proteins --- Macromolecular Substances --- Biochemical Phenomena --- Chemical Processes --- Biophysical Phenomena --- Pathological Conditions, Signs and Symptoms --- Nutritional and Metabolic Diseases --- Diseases --- Chemical Phenomena --- Physical Phenomena --- Chemicals and Drugs --- Cell Physiological Phenomena --- Phenomena and Processes --- Protein Folding --- Plaque, Amyloid --- Amyloid --- Cell Aggregation --- Human Anatomy & Physiology --- Health & Biological Sciences --- Animal Biochemistry --- Metabolism --- Disorders. --- Protein metabolism disorders --- Amyloid degeneration --- Medicine. --- Entomology. --- Biomedicine. --- Biomedicine general. --- Medicine/Public Health, general. --- Lymphoproliferative disorders --- Disorders --- Insects --- Zoology --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Health Workforce --- Biomedicine, general. --- Medicine --- Biology --- Invertebrates. --- Medical sciences. --- Biomedical Research. --- Invertebrate Zoology. --- Health Sciences. --- Research. --- Invertebrata --- Animals --- Biological research --- Biomedical research --- Basic medical sciences --- Basic sciences, Medical --- Biomedical sciences --- Health sciences --- Preclinical sciences --- Sciences, Medical
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Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.
Lysosomal storage diseases -- Pathogenesis. --- Lysosomal storage diseases -- Treatment. --- Lysosomal storage diseases. --- Lysosomal storage diseases --- Proteins --- Sphingolipidoses --- Cytoplasmic Vesicles --- Metabolic Phenomena --- Genetic Diseases, X-Linked --- Lysosomal Storage Diseases, Nervous System --- Organelles --- Genetic Diseases, Inborn --- Lipidoses --- Phenomena and Processes --- Fabry Disease --- Metabolism --- Lysosomes --- Lysosomal Storage Diseases --- Brain Diseases, Metabolic, Inborn --- Lipid Metabolism, Inborn Errors --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Lipid Metabolism Disorders --- Cytoplasmic Structures --- Metabolism, Inborn Errors --- Brain Diseases, Metabolic --- Diseases --- Cytoplasm --- Metabolic Diseases --- Nutritional and Metabolic Diseases --- Intracellular Space --- Brain Diseases --- Central Nervous System Diseases --- Cellular Structures --- Nervous System Diseases --- Cells --- Anatomy --- Medicine --- Health & Biological Sciences --- Metabolic & Nutritional Diseases --- Disorders --- Disorders. --- Protein metabolism disorders --- Cell storage disorders --- Lysosomal disorders --- Lysosomal enzyme disorders --- Storage diseases, Lysosomal --- Medicine. --- Human genetics. --- Metabolic diseases. --- Medicine & Public Health. --- Metabolic Diseases. --- Human Genetics. --- Metabolism, Inborn errors of --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of
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