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Lysosomal Disorders of the Brain Recent Advances in Molecular and Cellular Pathogenesis and Treatment 1st Edition by Frances M Platt, Steven U Walkley ISBN 0198508786 9780198508786

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Lysosomal Disorders of the Brain Recent Advances in Molecular and Cellular Pathogenesis and Treatment 1st Edition Frances M. Platt Digital Instant Download

Author(s): Frances M. Platt, Steven U. Walkley
ISBN(s): 9780198508786, 0198508786
Edition: 1
File Details: PDF, 5.46 MB
Year: 2004
Language: english
SKU: EB-2186544 Category: Tags: ,

Lysosomal Disorders of the Brain Recent Advances in Molecular and Cellular Pathogenesis and Treatment 1st Edition by Frances M. Platt, Steven U. Walkley – Ebook PDF Instant Download/Delivery: 0198508786, 9780198508786

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Product details:

ISBN 10: 0198508786 

ISBN 13: 9780198508786

Author: Frances M. Platt, Steven U. Walkley

Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain. Although individually rare, they collectively represent a significant group of diseases that primarily present in early infancy or childhood. In recent years considerable progress has been made in understanding the molecular mechanisms that lead to disordered function of the lysosomal system and to lysosomal storage. Unravelling the basis for these diseases is providing unique insight into the normal biology of cells and pointing the way to the development of therapeutic strategies for their treatment.

Lysosomal Disorders of Brain details recent advances in the molecular and cellular pathologies of these diseases and in the development of effective therapies. After an overview of the biology of the endosomal-lysosomal system and the types of diseases resulting from defects in this system, the book describes in detail the molecular mechanisms of storage, model systems and pathophysiological mechanisms, and finally, new advances toward treatment. With each chapter written by leading experts in their field, this book will be valuable for scientists and clinicians in helping them understand the role of lysosomes in normal cells and mechanisms underlying these disorders, how they can be diagnosed, and the treatment options that are currently available.

Table of contents:

Foreword, Hers
Preface, Platt and Walkley
Prologue, Malm
Section I: Overview of Lysosomes and Storage Diseases
1:The endosomal-lysosomal system, Maxfield and Mukherjee
2:Lysosomal defects and storage, Platt and Walkley
3:Clinical aspects and diagnosis, Wraith
Section II: Molecular Mechanisms of Storage
4:Primary defects in lysosomal enzymes, Winchester
5:Defects in lysosomal enzyme modification for catalytic activity, von Figura et al
6:Defects in lysosomal enzyme trafficking, Hasilik and Lemansky
7:Defects in lysosomal enzyme protection: galactosialidosis, d’Azzo
8:Defects in activator proteins and other soluble proteins of the lysosome, Sandhoff and Kolter
9:Defects in transmembrane proteins, Ioannou
Section III: Model Systems and Pathophysiological Mechanisms
10:Simple non-mammalian systems, Pearce
11:Spontaneous and engineered mammalian storage disease models, Hopwood et al
12:Pathogenic cascades and brain dysfunction, Walkley
Section IV: Treatment of Storage Diseases
13:Enzyme replacement therapy, Neufeld
14:Cell-mediated delivery systems, Dobrenis
15:Inhibition of substrate synthesis: a pharmacological approach for glycosphingolipid storage disease therapy, Platt and Butters
16:Gene therapy, Sands

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Tags: Frances M Platt, Steven U Walkley, Lysosomal, Disorders, Brain, Molecular, Cellular, Pathogenesis, Treatment