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Lysosomal Disorders of the Brain – Recent Advances in Molecular and Cellular Pathogenesis and Treatment - Oxford Scholarship Online
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Lysosomal Disorders of the Brain: Recent Advances in Molecular and Cellular Pathogenesis and Treatment

Frances Platt and Steven 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 therapeu ... More

Keywords: metabolic disorders, severe pathology, infancy, childhood, lysosomal storage, lysosomal system, therapeutic strategies, molecular mechanisms

Bibliographic Information

Print publication date: 2004 Print ISBN-13: 9780198508786
Published to Oxford Scholarship Online: September 2009 DOI:10.1093/acprof:oso/9780198508786.001.0001


Affiliations are at time of print publication.

Frances Platt, editor
Glycobiology Institute, Department of Biochemistry, University of Oxford, UK

Steven Walkley, editor
Department of Neuroscience, Albert Einstein College of Medicine, New York, USA

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Section I Overview of lysosomes and storage diseases

Chapter 1 The endosomal–lysosomal system

Frederick R. Maxfield, and Sushmita Mukherjee

Chapter 2 Lysosomal defects and storage

Frances M. Platt, and Steven U. Walkley

Section II Molecular mechanisms of storage

Chapter 5 Defects in lysosomal enzyme modification for catalytic activity

Kurt von Figura, Ljudmila V. Borissenko, Jens Fey, Jianhe Peng, Bernhard Schmidt, and Thomas Dierks

Chapter 6 Defects in lysosomal enzyme trafficking

Andrej Hasilik, and Peter Lemansky

Chapter 8 Defects in activator proteins and other soluble proteins of the lysosome

Oliver Macheleidt, Thomas Kolter, and Konrad Sandhoff

Section III Model systems and pathophysiological mechanisms

Chapter 11 Spontaneous and engineered mammalian storage disease models

John J. Hopwood, Allison C. Crawley, and Rosanne M. Taylor

Section IV Treatment of storage diseases

Chapter 16 Gene therapy

Mark S. Sands

End Matter