Lysosomal Storage Disorders

__**Lysosomal Biology and Storage Disorders**__ **John A. Barranger and Mario A. Cabrera-Salazar** The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. Research of these disorders has moved from diseases with unknown etiology to disorders with clear and defined pathophysiology and some of them have benefited from the development of disease specific therapeutics. __**Lysosomal Biology and Storage Disorders**__ describes the nature of the diseases, the historical evolution of the field and future perspectives for the treatment of these clinical entities. Organized as a textbook, **__Lysosomal Biology and Storage Disorders__** describes the nature of lysosomal dysfunction, the synthesis and targeting of lysosomal enzymes and the implications of the targeting mechanisms for the development of new therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. **__Lysosomal Biology and Storage Disorders__** will be attract to all researchers in biochemical and molecular genetics, enzyme therapy, gene transfer, and others concerned with the models of genetic disease. This book is dedicated to patients affected by Lysosomal Storage Disorders, and especially to the National Gaucher Foundation (USA) and the Colombian Association of Patients with Lysosomal Storage Diseases (ACOPEL for its Spanish Acronym). Both organizations will share in the sales of this book. **About the Editors:** **John A. Barranger, M.D., Ph.D**. is a Professor in the departments of human genetics, molecular genetics and biochemistry, and pediatrics at the University of Pittsburgh School of Medicine. He has also served as director of the Human Gene Therapy Applications Laboratory, the Center for the Study and Treatment of Jewish Genetic Diseases, and the Comprehensive Gaucher Disease Treatment Center in this institution **Mario A. Cabrera-Salazar, MD** is a Staff Scientist at Genzyme Corporation in Framingham, MA. He is involved in the development of enzymatic and gene therapies for lysosomal storage disorders and for neurodegenerative diseases in the department of Genetic Disease Science.

Lysosomal Biology and Storage Disorders

John A. Barranger and Mario A. Cabrera-Salazar

The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. Research of these disorders has moved from diseases with unknown etiology to disorders with clear and defined pathophysiology and some of them have benefited from the development of disease specific therapeutics. Lysosomal Biology and Storage Disorders describes the nature of the diseases, the historical evolution of the field and future perspectives for the treatment of these clinical entities.

Organized as a textbook, Lysosomal Biology and Storage Disorders describes the nature of lysosomal dysfunction, the synthesis and targeting of lysosomal enzymes and the implications of the targeting mechanisms for the development of new therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area.

Lysosomal Biology and Storage Disorders will be attract to all researchers in biochemical and molecular genetics, enzyme therapy, gene transfer, and others concerned with the models of genetic disease.

This book is dedicated to patients affected by Lysosomal Storage Disorders, and especially to the National Gaucher Foundation (USA) and the Colombian Association of Patients with Lysosomal Storage Diseases (ACOPEL for its Spanish Acronym). Both organizations will share in the sales of this book.

About the Editors:

John A. Barranger, M.D., Ph.D. is a Professor in the departments of human genetics, molecular genetics and biochemistry, and pediatrics at the University of Pittsburgh School of Medicine.

He has also served as director of the Human Gene Therapy Applications Laboratory, the Center for the Study and Treatment of Jewish Genetic Diseases, and the Comprehensive Gaucher Disease Treatment Center in this institution

Mario A. Cabrera-Salazar, MD is a Staff Scientist at Genzyme Corporation in Framingham, MA. He is involved in the development of enzymatic and gene therapies for lysosomal storage disorders and for neurodegenerative diseases in the department of Genetic Disease Science.

Doody Review Services

Reviewer:Luis F. Escobar, MD, MS(St. Vincent Hospital and Health Care Center)
Description:The authors have brought together an excellent group of contributors to provide an introduction to lysosomal storage disorders (LSDs).
Purpose:As noted in the preface, the vast amount of information that has become available about these disorders over the past decade is overwhelming to clinicians not directly involved in the care of affected patients. As the field evolves, there is a need to provide tools for the medical community to understand the advances. The authors set out to provide introductory information that will enable readers with different backgrounds to understand the complexity of lysosomal disorders.
Audience:The book requires a certain degree of background knowledge to assimilate. It is oriented to serve individuals working in the field of LSDs, but it also would provide a good base of knowledge for graduate students, medical residents, or clinical genetics physicians who wish to update their understanding of the lysosome pathology and function. I agree with the authors that this wonderful book will be attractive to basic scientists in biochemical and molecular genetics, enzyme therapy, gene transfer, and others concerned with the models of genetic disease.
Features:Each section has been arranged appropriately, with a clear sequence that makes it easy to read. The first few chapters provide enough background to allow readers to understand current technology. The second part of the book reviews individual disorders such as Fabry's disease, the muchopolysacharidosis syndromes, cystinosis, among others. The book is well edited and concise.
Assessment:With this unique book, the authors have provided a well thought out source of information on lysosomal disorders. Clearly, as information evolves, we will look forward to a second edition of this wonderful work.

Lysosomal Biology and Storage Disorders John A. Barranger and Mario A. Cabrera-Salazar The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. Research of these disorders has moved from diseases with unknown etiology to disorders with clear and defined pathophysiology and some of them have benefited from the development of disease specific therapeutics. Lysosomal Biology and Storage Disorders describes the nature of the diseases, the historical evolution of the field and future perspectives for the treatment of these clinical entities. Organized as a textbook, Lysosomal Biology and Storage Disorders describes the nature of lysosomal dysfunction, the synthesis and targeting of lysosomal enzymes and the implications of the targeting mechanisms for the development of new therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. Lysosomal Biology and Storage Disorders will be attract to all researchers in biochemical and molecular genetics, enzyme therapy, gene transfer, and others concerned with the models of genetic disease. This book is dedicated to patients affected by Lysosomal Storage Disorders, and especially to the National Gaucher Foundation (USA) and the Colombian Association of Patients with Lysosomal Storage Diseases (ACOPEL for its Spanish Acronym). Both organizations will share in the sales of this book. About the Editors: John A. Barranger, M.D., Ph. D. is a Professor in the departments of human genetics, molecular genetics and biochemistry, and pediatrics at the University of Pittsburgh School of Medicine. He has also served as director of the Human Gene Therapy Applications Laboratory, the Center for the Study and Treatment of Jewish Genetic Diseases, and the Comprehensive Gaucher Disease Treatment Center in this institution Mario A. Cabrera-Salazar, MD is a Staff Scientist at Genzyme Corporation in Framingham, MA. He is involved in the development of enzymatic and gene therapies for lysosomal storage disorders and for neurodegenerative diseases in the department of Genetic Disease Science The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. This is an invaluable resource for researchers in biochemical and molecular genetics, enzyme therapy, and gene transfer.