Peroxisomal Disorders And Regulation Of Genes

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Peroxisomal Disorders and Regulation of Genes

Frank Roels,Myriam Baes,Sylvia Delanghe
Peroxisomal Disorders and Regulation of Genes Book PDF

Author : Frank Roels,Myriam Baes,Sylvia Delanghe
Publisher : Springer Science & Business Media
Page : 434 pages
File Size : 43,6 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9781441990723

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Peroxisomal Disorders and Regulation of Genes by Frank Roels,Myriam Baes,Sylvia Delanghe Pdf

In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.

Diagnosis of human peroxisomal disorders

Frank Roels,Sylvia De Bie,R.B.H. Schutgens,G.T.N. Besley
Diagnosis of human peroxisomal disorders Book PDF

Author : Frank Roels,Sylvia De Bie,R.B.H. Schutgens,G.T.N. Besley
Publisher : Springer Science & Business Media
Page : 234 pages
File Size : 46,8 Mb
Release : 2013-06-29
Category : Medical
ISBN : 9789401196352

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Diagnosis of human peroxisomal disorders by Frank Roels,Sylvia De Bie,R.B.H. Schutgens,G.T.N. Besley Pdf

Peroxisomal disorders constitute a major research front in clinical genetics, paediatrics and cell biology. Since 1983, the metabolic defect in some 20 different peroxisomal disorders has been described. The best known conditions include Zellweger syndrome, rhizomelic chondrodysplasia punctata and X-linked adrenoleukodystrophy and, in the most recent edition of The Metabolic and Molecular Basis Inherited Disease, edited by Scriver and colleagues, more than 100 pages are now devoted to the subject. Progress in our understanding of these conditions, and their diagnosis, results from the application of a variety of laboratory investigations. These include microscopic studies, analysis of metabolites (very long-chain fatty acids, bile acids, and plasmalogens), enzyme studies (peroxisomal beta-oxidation pathway and dihydroxyacetone phosphate acyltransferase), immunodetection of peroxisomal (membrane) proteins and molecular analysis of mutant DNA. In order to encourage a greater awareness in this field and the diagnostic protocols required, an international course was organised in Gent, Belgium, in May 1994, on the clinical and biochemical diagnosis of peroxisomal disorders. A number of international experts in the field who provided intensive hands-on experience over 3.5 days, have now collected their course work and reviews together in this Handbook. The volume is introduced by Sidney Goldfischer, who in 1973 was the first to recognise the absence of peroxisomes in Zellweger syndrome, but whose observations were not fully appreciated for a further decade. This handbook provides the most comprehensive and detailed account of laboratory methods for the diagnosis of peroxisomal disorders. The methods are clearly presented and well illustrated, and should allow laboratories to introduce these methods into their repertoire. Audience: Paediatricians, neurologists, clinical biochemists, pathologists, genetic counsellors, obstetricians, and GPs interested in the recognition, diagnosis and prenatal prevention of peroxisomal disorders.

Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases

Gérard Lizard
Peroxisome Biology Experimental Models Peroxisomal Disorders and Neurological Diseases Book PDF

Author : Gérard Lizard
Publisher : Springer Nature
Page : 209 pages
File Size : 43,7 Mb
Release : 2021-01-08
Category : Medical
ISBN : 9783030602048

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Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases by Gérard Lizard Pdf

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.

Peroxisomes

Norbert Latruffe,Maurice Bugaut
Peroxisomes Book PDF

Author : Norbert Latruffe,Maurice Bugaut
Publisher : Springer
Page : 201 pages
File Size : 51,7 Mb
Release : 1993-12-16
Category : Science
ISBN : 3540568603

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Peroxisomes by Norbert Latruffe,Maurice Bugaut Pdf

Discovered and first isolated in 1966 in C. De Duve's laboratory, peroxisomes - organelles which are present in nearly all eukaryotic cells - are still not fully understood. More than 40 peroxisomal enzymes catalyzing a variety of reactions have been characterized. Moreover, peroxisomes can be regarded as toxicological indicators: several compounds, including hypolipemic drugs, plasticizers or pesticides trigger their proliferation. This proliferation may lead to hepatocarcinogenesis in rodents. Interest in peroxisomes stems not only fromtheir biology, but also because there is a deficiency of peroxisomal functions in several genetic diseases. Some genes involved in inborn errors of peroxisomal function have recently been identified. In this manual, based on a FEBS Advanced Course on peroxisomes, protocols on the following topics are described in detail: Isolation and characterization of peroxisomes by ultracentrifugationand immunoblotting; gene regulation studied by mRNA isolation, hybridizationand DNA cell transfection; use of cell lines as peroxisome proliferator targets; transformation with retrovirus; peroxisomes as toxicological markers; cytochrome P450 induction; drug design and computer analysis of ligand/receptor interaction involved in peroxisomal gene expression.

NORD Guide to Rare Disorders

National Organization for Rare Disorders
NORD Guide to Rare Disorders Book PDF

Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
Page : 982 pages
File Size : 43,8 Mb
Release : 2003
Category : Medical
ISBN : 0781730635

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NORD Guide to Rare Disorders by National Organization for Rare Disorders Pdf

NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

The Regulatory Genome in Adaptation, Evolution, Development, and Disease

Moyra Smith
The Regulatory Genome in Adaptation Evolution Development and Disease Book PDF

Author : Moyra Smith
Publisher : Elsevier
Page : 420 pages
File Size : 41,6 Mb
Release : 2023-03-10
Category : Science
ISBN : 9780443153532

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The Regulatory Genome in Adaptation, Evolution, Development, and Disease by Moyra Smith Pdf

The Regulatory Genome in Adaptation, Evolution, Development, and Disease synthesizes insights from recent genomic and gene expression studies across organisms, from humans to plants, animals, and single cell life, exploring common roles gene regulation plays in adaptive evolution, developmental biology and susceptibility to disease. The book sheds light on gene regulation across evolutionary timelines, illuminating new areas of focus and future research. Chapters consider key elements in gene expression regulation, fundamentals of genomic alterations over time, and in response to environmental and local conditions, epigenetics in adaptive evolution, and adaptive gene regulation in healthy processes and developmental biology, and in disease biology. Throughout the book, a comparative approach is adopted across organisms to highlight common evolutionary themes and genome diversity revealed by recent sequencing and GWAS studies, as well as how this informs our understanding of human adaptive evolution. The book finishes by detailing how we can use this knowledge to impact disease outcomes and healthy human metabolism, development, and physiology. Reviews key elements in the regulation of gene expression and modes of studying gene regulation across evolutionary timelines Adopts a cross-species view, synthesizing recent sequencing and GWAS studies across organisms to draw out fresh meaning and highlight pathways for future research Considers altered gene expression associated with developmental defects and disease, as well as healthy biology and physiology, and our adaptive response to disease influence

The Metabolic & Molecular Bases of Inherited Disease

Charles R. Scriver
The Metabolic Molecular Bases of Inherited Disease Book PDF

Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
Page : 6338 pages
File Size : 46,5 Mb
Release : 2001
Category : Genetic disorders
ISBN : 007136319X

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The Metabolic & Molecular Bases of Inherited Disease by Charles R. Scriver Pdf

Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Greenfield's Neuropathology Eighth Edition 2-Volume Set

Seth Love,David Louis,David W Ellison
Greenfield s Neuropathology Eighth Edition 2 Volume Set Book PDF

Author : Seth Love,David Louis,David W Ellison
Publisher : CRC Press
Page : 2224 pages
File Size : 51,9 Mb
Release : 2008-02-29
Category : Medical
ISBN : 9781466585430

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Greenfield's Neuropathology Eighth Edition 2-Volume Set by Seth Love,David Louis,David W Ellison Pdf

Greenfield's Neuropathology, the worlds leading neuropathology reference, provides an authoritative, comprehensive account of the pathological findings in neurological disease, their biological basis and their clinical manifestations. This account is underpinned throughout by a clear description of the molecular and cellular processes and reactions that are relevant to the development, and normal and abnormal functioning of, the nervous system. While this scientific content is of paramount importance, however, care has been taken to ensure that the information is presented in a way that is accessible to readers working within a range of disciplines in the clinical neurosciences, and that also places the neuropathological findings within the context of a broader diagnostic process. The new eighth edition incorporates much new information, new illustrations and many new authors, while retaining the depth, breadth and quality of content so praised in previous editions. Each chapter opens with an introductory section designed to offer an integrated approach to diagnosis, taking account of clinical manifestations, neuroradiological and laboratory findings as well as the neuropathological and molecular genetic features of the diseases being considered. Strong emphasis has been placed on facilitating the retrieval of neuropathological information by non-neuropathologists grapping with differential diagnoses or seeking information on broad categories of neurological disease, and boxes and tables are used to present important symptoms and signs, patterns of disease and other features for ease of reference. High quality line and photographic illustrations, the majority in full colour, are all available on a companion CD, to complete the offering.

Greenfield's Neuropathology, 2-Volume Set, Eighth Edition

Seth Love,David Louis,David W Ellison
Greenfield s Neuropathology 2 Volume Set Eighth Edition Book PDF

Author : Seth Love,David Louis,David W Ellison
Publisher : CRC Press
Page : 2285 pages
File Size : 55,6 Mb
Release : 2008-02-29
Category : Medical
ISBN : 9780340906811

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Greenfield's Neuropathology, 2-Volume Set, Eighth Edition by Seth Love,David Louis,David W Ellison Pdf

Greenfield's Neuropathology, the worlds leading neuropathology reference, provides an authoritative, comprehensive account of the pathological findings in neurological disease, their biological basis and their clinical manifestations. This account is underpinned throughout by a clear description of the molecular and cellular processes and reactions that are relevant to the development, and normal and abnormal functioning of, the nervous system. While this scientific content is of paramount importance, however, care has been taken to ensure that the information is presented in a way that is accessible to readers working within a range of disciplines in the clinical neurosciences, and that also places the neuropathological findings within the context of a broader diagnostic process. The new eighth edition incorporates much new information, new illustrations and many new authors, while retaining the depth, breadth and quality of content so praised in previous editions. Each chapter opens with an introductory section designed to offer an integrated approach to diagnosis, taking account of clinical manifestations, neuroradiological and laboratory findings as well as the neuropathological and molecular genetic features of the diseases being considered. Strong emphasis has been placed on facilitating the retrieval of neuropathological information by non-neuropathologists grapping with differential diagnoses or seeking information on broad categories of neurological disease, and boxes and tables are used to present important symptoms and signs, patterns of disease and other features for ease of reference. High quality line and photographic illustrations, the majority in full colour, are all available on a companion CD, to complete the offering.

Advances in Human Genetics 21

Harry Harris,Kurt Hirschhorn
Advances in Human Genetics 21 Book PDF

Author : Harry Harris,Kurt Hirschhorn
Publisher : Springer Science & Business Media
Page : 482 pages
File Size : 47,7 Mb
Release : 2013-06-29
Category : Medical
ISBN : 9781461530107

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Advances in Human Genetics 21 by Harry Harris,Kurt Hirschhorn Pdf

The current volume includes chapters on peroxisomal disorders, genetic aspects of cancer, Gaucher disease, and other topics.

The Liver

Irwin M. Arias,Harvey J. Alter,James L. Boyer,David E. Cohen,David A. Shafritz,Snorri S. Thorgeirsson,Allan W. Wolkoff
The Liver Book PDF

Author : Irwin M. Arias,Harvey J. Alter,James L. Boyer,David E. Cohen,David A. Shafritz,Snorri S. Thorgeirsson,Allan W. Wolkoff
Publisher : John Wiley & Sons
Page : 1156 pages
File Size : 51,8 Mb
Release : 2020-03-09
Category : Medical
ISBN : 9781119436829

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The Liver by Irwin M. Arias,Harvey J. Alter,James L. Boyer,David E. Cohen,David A. Shafritz,Snorri S. Thorgeirsson,Allan W. Wolkoff Pdf

Bridging the gap between basic scientific advances and the understanding of liver disease — the extensively revised new edition of the premier text in the field. The latest edition of The Liver: Biology and Pathobiology remains a definitive volume in the field of hepatology, relating advances in biomedical sciences and engineering to understanding of liver structure, function, and disease pathology and treatment. Contributions from leading researchers examine the cell biology of the liver, the pathobiology of liver disease, the liver’s growth, regeneration, metabolic functions, and more. Now in its sixth edition, this classic text has been exhaustively revised to reflect new discoveries in biology and their influence on diagnosing, managing, and preventing liver disease. Seventy new chapters — including substantial original sections on liver cancer and groundbreaking advances that will have significant impact on hepatology — provide comprehensive, fully up-to-date coverage of both the current state and future direction of hepatology. Topics include liver RNA structure and function, gene editing, single-cell and single-molecule genomic analyses, the molecular biology of hepatitis, drug interactions and engineered drug design, and liver disease mechanisms and therapies. Edited by globally-recognized experts in the field, this authoritative volume: Relates molecular physiology to understanding disease pathology and treatment Links the science and pathology of the liver to practical clinical applications Features 16 new “Horizons” chapters that explore new and emerging science and technology Includes plentiful full-color illustrations and figures The Liver: Biology and Pathobiology, Sixth Edition is an indispensable resource for practicing and trainee hepatologists, gastroenterologists, hepatobiliary and liver transplant surgeons, and researchers and scientists in areas including hepatology, cell and molecular biology, virology, and drug metabolism.

Index Medicus

Anonim
Index Medicus Book PDF

Author : Anonim
Publisher : Unknown
Page : 2388 pages
File Size : 41,5 Mb
Release : 2004
Category : Medicine
ISBN : MINN:31951P00992561K

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Index Medicus by Anonim Pdf

Vols. for 1963- include as pt. 2 of the Jan. issue: Medical subject headings.

Molecular Machines Involved in Peroxisome Biogenesis and Maintenance

Cecile Brocard,Andreas Hartig
Molecular Machines Involved in Peroxisome Biogenesis and Maintenance Book PDF

Author : Cecile Brocard,Andreas Hartig
Publisher : Springer
Page : 540 pages
File Size : 46,7 Mb
Release : 2014-07-23
Category : Science
ISBN : 9783709117880

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Molecular Machines Involved in Peroxisome Biogenesis and Maintenance by Cecile Brocard,Andreas Hartig Pdf

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.

Peroxisomes

G. Gordon Gibson,Brian G. Lake
Peroxisomes Book PDF

Author : G. Gordon Gibson,Brian G. Lake
Publisher : CRC Press
Page : 756 pages
File Size : 55,8 Mb
Release : 2013-04-08
Category : Medical
ISBN : 0203481518

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Peroxisomes by G. Gordon Gibson,Brian G. Lake Pdf

Provides an update on several new aspects of peroxisome biology, including the role of the peroxisome proliferator activated receptor. The book covers morphilogical, biochemical and molecular biological aspects of peroxisomes.

Plant Peroxisomes

A. Baker,I.A. Graham
Plant Peroxisomes Book PDF

Author : A. Baker,I.A. Graham
Publisher : Springer Science & Business Media
Page : 509 pages
File Size : 44,9 Mb
Release : 2013-03-14
Category : Science
ISBN : 9789401598583

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Plant Peroxisomes by A. Baker,I.A. Graham Pdf

In the two decades since the last comprehensive work on plant peroxisomes appeared, the scientific approaches employed in the study of plant biology have changed beyond all recognition. The accelerating pace of plant research in the post-genomic era is leading us to appreciate that peroxisomes have many important roles in plant cells, including reserve mobilisation, nitrogen assimilation, defence against stress, and metabolism of plant hormones, which are vital for productivity and normal plant development. Many plant scientists are finding, and will no doubt continue to find, that their own area of research is connected in some way to peroxisomes. Written by the leading experts in the field, this book surveys peroxisomal metabolic pathways, protein targeting and biogenesis of the organelle and prospects for the manipulation of peroxisomal function for biotechnological purposes. It aims to draw together the current state of the art as a convenient starting point for anyone, student or researcher, who wishes to know about plant peroxisomes.