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Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases

Author : Gérard Lizard

Publisher : Springer Nature

Page : 209 pages

File Size : 32,14 MB

Release : 2021-01-08

Category : Medical

ISBN : 3030602044

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Book Description

This book provides an overview of the biology and biochemistry of peroxisomes, and discusses the contribution of these organelles to peroxisomal and neurodegenerative diseases. It begins with a detailed introduction to the biogenesis and metabolic functions of peroxisomes, and highlights their role in oxidative stress and in lipid metabolism such as fatty acid oxidation. The following chapters focus on the molecular and clinical aspects of peroxisomal disorders caused by defects in peroxisomal function. In particular, the biological aspects of peroxisomal biogenesis disorders such as Zellweger syndrome and Heimler syndrome are discussed. This includes their underlying genetic causes as well as the biochemical and metabolic defects associated with the disorders. In addition, several chapters cover recent observations suggesting an association between peroxisomal dysfunction and neurodegenerative diseases such as Alzheimer's, Multiple Sclerosis and other degenerative cerebellar pathologies. The final section of the book discusses important cell and animal models for studying the role of peroxisomes in human diseases and presents current therapeutic strategies for their treatment. This book deals with a highly topical subject that is at the heart of current research, and represents a valuable contribution for all students and researchers who want to understand the complex biology of peroxisomes and their role in human diseases.





Biomarkers in Inborn Errors of Metabolism

Author : Uttam Garg

Publisher : Elsevier

Page : 477 pages

File Size : 30,77 MB

Release : 2017-06-07

Category : Medical

ISBN : 0128029188

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Book Description

Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. - Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens - Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers - Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism - Offers guidance on how to distinguish acquired causes from inborn errors of metabolism



Molecular Machines Involved in Peroxisome Biogenesis and Maintenance

Author : Cecile Brocard

Publisher : Springer

Page : 540 pages

File Size : 45,45 MB

Release : 2014-07-23

Category : Science

ISBN : 3709117887

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Book Description

In eukaryotes, lipid metabolism requires the function of peroxisomes. These multitasking organelles are also part of species-specific pathways such as the glyoxylate cycle in yeast and plants or the synthesis of ether lipid in mammals. Proteins required for the biogenesis of peroxisomes typically assemble in large molecular complexes, which participate in membrane formation, protein transport, peroxisome duplication and - inheritance during cell division. Peroxisomal function is essential for life. Mutations in PEX genes, encoding for biogenesis factors, are often associated with lethal disorders. The association of peroxisomes with other organelles suggests an extensive participation in organellar crosstalk. This book represents a state-of-the-art review in the field of peroxisome research encompassing the cell and molecular biology of peroxisome biogenesis and its diseases, the protein complexes involved in this process and the modern technologies applied to study them. The book is intended for graduate students, researchers and lecturers in biochemistry, molecular and cell biology with a biomedical background.



Progressive Brain Disorders in Childhood

Author : Juan M. Pascual

Publisher : Cambridge University Press

Page : 507 pages

File Size : 46,32 MB

Release : 2017-04-20

Category : Medical

ISBN : 1107042054

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Book Description

A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.



Encyclopedia of the Neurological Sciences

Author :

Publisher : Academic Press

Page : 4744 pages

File Size : 36,67 MB

Release : 2014-04-29

Category : Medical

ISBN : 0123851580

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Book Description

The Encyclopedia of the Neurological Sciences, Second Edition, Four Volume Set develops from the first edition, covering all areas of neurological sciences through over 1000 entries focused on a wide variety of topics in neurology, neurosurgery, psychiatry and other related areas of neuroscience. The contributing authors represent all aspects of neurology from many viewpoints and disciplines to provide a complete overview of the field. Entries are designed to be understandable without detailed background knowledge in the subject matter, and cross-referencing and suggested further reading lead the reader from a basic knowledge of the subject to more advanced understanding. The easy-to-use 'encyclopedic-dictionary' format of the Encyclopedia of the Neurological Sciences, Second Edition features alphabetic entries, extensive cross-referencing, and a thorough index for quick reference. The wealth of information provided by these four volumes makes this reference work a trusted source of valuable information for a wide range of researchers, from undergraduate students to academic researchers. Provides comprehensive coverage of the field of neurological science in over 1,000 entries in 4 volumes "Encyclopedic-dictionary" format provides for concise, readable entries and easy searching Presents complete, up-to-date information on 32 separate areas of neurology Entries are supplemented with extensive cross-referencing, useful references to primary research articles, and an extensive index



Peroxisomes

Author : Michael Schrader

Publisher : Springer Nature

Page : 507 pages

File Size : 31,81 MB

Release : 2023-03-23

Category : Science

ISBN : 1071630482

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Book Description

This fully updated volume assembles a comprehensive collection of methods, techniques, and strategies to investigate the molecular and cellular biology of peroxisomes in different organisms. Peroxisome research is on the rise, as novel functions and proteins of this dynamic organelle are still being discovered through studies in model systems including humans, mice, flies, plants, fungi, and yeast, and this progress is reflected in the chapters included in this collection. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step and readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and up-to-date, Peroxisomes: Methods and Protocols, Second Edition serves as an ideal guide for researchers working on peroxisome- and organelle-based research questions.



Metabolic Diseases

Author : E. Gilbert-Barness

Publisher : IOS Press

Page : 960 pages

File Size : 27,31 MB

Release : 2017-01-06

Category : Medical

ISBN : 1614997187

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Book Description

The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.



Reviews on Biomarker Studies of Metabolic and Metabolism-Related Disorders

Author : Paul C. Guest

Publisher : Springer

Page : 309 pages

File Size : 39,41 MB

Release : 2019-03-27

Category : Science

ISBN : 3030126684

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Book Description

The book recognizes that throughout the scientific, medical, and economic communities, new tests incorporating biomarkers are needed to improve the diagnosis of patients suffering from metabolic disorders. The early identification of those at risk of developing obesity will help to place these individuals on the best treatment course as early as possible for improved treatment outcomes. This will also help to cut costs incurred by the healthcare services. For all of this to occur, new research efforts are needed to identify novel biomarkers that can be used to predict the disease in the presymptomatic stage, for disease monitoring and for prediction of treatment response. It is also possible that new drug targets can be identified using these approaches which, in turn, can lead to the development of new treatment approaches. This volume also includes a series of reviews on biomarker discovery and usage in the study of diseases marked by perturbations in metabolism. It will describe the pros and cons of the various approaches and cover the successes and failures in this important research field.