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Lysosomal Disorders of the Brain: Recent Advances in Molecular and Cellular Pathogenesis and Treatment [Kõva köide]

Edited by (, Department of Neuroscience, Albert Einstein College of Medicine, New York, USA), Edited by (, Glycobiology Institute, Department of Biochemistry, University of Oxford, UK)
  • Formaat: Hardback, 478 pages, kõrgus x laius x paksus: 248x173x31 mm, kaal: 1079 g, 17 line drawings, 9 halftones and 10 colour figures
  • Ilmumisaeg: 12-Feb-2004
  • Kirjastus: Oxford University Press
  • ISBN-10: 0198508786
  • ISBN-13: 9780198508786
Teised raamatud teemal:
Lysosomal Disorders of the Brain: Recent Advances in Molecular and Cellular Pathogenesis and TreatmentSuurem pilt
  • Formaat: Hardback, 478 pages, kõrgus x laius x paksus: 248x173x31 mm, kaal: 1079 g, 17 line drawings, 9 halftones and 10 colour figures
  • Ilmumisaeg: 12-Feb-2004
  • Kirjastus: Oxford University Press
  • ISBN-10: 0198508786
  • ISBN-13: 9780198508786
Teised raamatud teemal:
Püsilink: https://www.kriso.ee/db/9780198508786.html
Märksõnad:
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.

Arvustused

. . . this book is highly recommended . . for those readers wanting to get a clear and straightforward overview of LSDs . . . then this well-written book is a worthwhile investment. * Nature Cell Biology, Vol 6, Number 11 *

Muu info

Details recent advances in the pathology of these diseases and implications for treatment
List of contributors xvii
Prologue xxi
Section I Overview of lysosomes and storage diseases
Chapter 1 The endosomal-lysosomal system
3(29)
Frederick R. Maxfield and Sushmita Mukherjee
Introduction
3(1)
The endosomal-lysosomal system: the 'early' and 'late' endocytic compartments
3(6)
The endocytic process
9(3)
Itineraries of endocytosed molecules
12(5)
Trafficking through the endocytic recycling compartment
17(4)
Specialized aspects of endocytosis in neurones
21(2)
Summary
23(1)
Acknowledgements
24(1)
References
24(8)
Chapter 2 Lysosomal defects and storage
32(18)
Frances M. Platt and Steven U. Walkley
Introduction
32(1)
Traditional classification of lysosomal storage diseases
33(6)
Classifying lysosomal diseases on the basis of molecular defect
39(7)
Summary
46(1)
References
47(3)
Chapter 3 Clinical aspects and diagnosis
50(31)
J. Edmond Wraith
Introduction
50(1)
General clinical presentation
50(15)
Specific clinical presentation and progression
65(9)
Summary
74(1)
References
75(6)
Section II Molecular mechanisms of storage
Chapter 4 Primary defects in lysosomal enzymes
81(50)
Bryan G. Winchester
Introduction
81(1)
Molecular genetics of lysosomal enzyme deficiencies
82(1)
Relating mutations to the structure and function of lysosomal enzymes
83(4)
Genotype/phenotype correlation in groups of neuronal storage disorders
87(28)
Summary
115(1)
References
116(15)
Chapter 5 Defects in lysosomal enzyme modification for catalytic activity
131(10)
Kurt von Figura, Ljudmila V. Borissenko, Jens Fey, Jianhe Peng, Bernhard Schmidt and Thomas Dierks
Introduction
131(1)
Clinical and biochemical background of multiple sulfatase deficiency
131(1)
Cα-Formylglycine in sulfatases
132(1)
Functional role of Cα-formylglycine
133(2)
Generation of C&alpaha;-formylglycine in the endoplasmic reticulum
135(1)
Structural determinants controlling Cα-formylglycine formation
136(1)
In vitro assay for Cα-formylglycine formation
137(1)
Characterization of the Cα-formylglycine-generating system
138(1)
Purification of the C&alpah;-formylglycine-generating system
138(1)
Summary
139(1)
Acknowledgements
139(1)
References
139(2)
Chapter 6 Defects in lysosomal enzyme trafficking
141(29)
Andrej Hasilik and Peter Lemansky
Introduction
141(1)
Synthesis of N-acetylglucosamine-1-phospho-6-mannose diester groups in lysosomal enzymes
142(3)
The uncovering
145(2)
Mannose-6-phosphate-dependent packaging
147(4)
Defects and alterations in the mannose-6-phosphate-dependent targeting
151(3)
Mannose-6-phosphate-independent lysosomal targeting
154(1)
Dephosphorylation and degradation of lysosomal enzymes
155(3)
Sequelae of targeting defects
158(1)
Summary
158(1)
References
159(11)
Chapter 7 Defects in lysosomal enzyme protection: galactosialidosis
170(16)
Alessandra d'Azzo
Introduction
170(1)
Protective protein/cathepsin A is a component of a lysosomal multi-enzyme complex
171(1)
Molecular, biochemical, and structural properties of protective protein/cathepsin A
171(2)
Protective protein/cathepsin A is a multifunctional protein
173(1)
Human protective protein/cathepsin A deficiency
173(1)
Pathology
174(1)
Molecular and biochemical defects
175(1)
Mouse model of galactosialidosis
176(5)
Summary
181(1)
Acknowledgements
181(1)
References
181(5)
Chapter 8 Defects in activator proteins and other soluble proteins of the lysosome
186(20)
Oliver Macheleidt, Thomas Kolter and Konrad Sandhoff
Introduction
186(1)
Glycosphingolipid structure, function, and biosynthesis
186(1)
Lysosomal glycosphingolipid catabolism
187(3)
GM2 Activator protein
190(3)
Sphingolipid activator proteins derived from prosaposin
193(2)
Clinical aspects of activator protein deficiencies
195(2)
Pathophysiology of Niemann-Pick disease type C
197(1)
Summary
198(1)
References
199(7)
Chapter 9 Defects in transmembrane proteins
206(25)
Yiannis A. Ioannou
Introduction
206(2)
The endosomal/lysosomal v-ATPase
208(3)
Niemann-Pick C disease
211(3)
Neuronal ceroid lipofuscinoses-Batten disease
214(1)
Salla disease
215(1)
Danon disease
216(1)
Cystinosis
217(1)
Mucolipidosis type IV
218(1)
Summary
219(1)
Acknowledgements
220(1)
References
220(11)
Section III Model systems and pathophysiological mechanisms
Chapter 10 Simple non-mammalian systems
231(26)
David A. Pearce
Introduction
231(1)
Proteins associated with lysosomal storage diseases and their orthologues in model organisms
232(1)
Studies of orthologous proteins associated with lysosomal storage diseases
232(9)
Biogenesis and trafficking to the lysosome
241(5)
Proteins associated with disease and with lysosome biogenesis and their orthologues in model organisms
246(3)
Studies of orthologous proteins implicated in disease that are involved in lysosome biogenesis
249(1)
Summary
250(1)
Acknowledgements
250(1)
References
250(7)
Chapter 11 Spontaneous and engineered mammalian storage disease models
257(33)
John J. Hopwood, Allison C. Crawley and Rosanne M. Taylor
Sphingolipidoses
257(9)
Mucopolysaccharidoses
266(1)
Glycoproteinoses
266(1)
Glycogen lysosomal storage disorders
266(10)
Mucolipidoses
276(1)
Neuronal ceroid lipofuscinoses
276(3)
Summary
279(1)
Editors' note
279(1)
References
279(11)
Chapter 12 Pathogenic cascades and brain dysfunction
290(37)
Steven U. Walkley
Introduction
290(1)
A clinical maelstrom
290(1)
The pathogenic cascade in brain
291(1)
The why, where, and what of storage
292(9)
The cellular consequences of storage
301(11)
Functional assessment of brain
312(4)
Summary
316(1)
Acknowledgements
316(1)
References
316(11)
Section IV Treatment of storage diseases
Chapter 13 Enzyme replacement therapy
327(12)
Elizabeth F. Neufeld
Introduction
327(1)
Enzyme replacement therapy is based on the process of endocytosis
327(1)
Endocytosis of lysosomal enzymes is receptor-mediated
328(1)
Early attempts at enzyme replacement were unsuccessful
329(1)
The first successful enzyme replacement therapy was treatment of type I Gaucher disease with macrophage-targeted glucocerebrosidase
330(1)
Enzyme replacement therapy is at various stages of development for several other lysosomal storage diseases
330(2)
General considerations for enzyme replacement in lysosomal storage disorders
332(1)
Can the blood-brain barrier be circumvented?
333(1)
Is there currently any role for enzyme replacement for lysosomal disorders with a neurologic component?
334(1)
Summary
334(1)
Acknowledgements
335(1)
References
335(4)
Chapter 14 Cell-mediated delivery systems
339(42)
Kostantin Dobrenis
Introduction
339(1)
Basic principles of cell-mediated therapy
339(1)
The challenges of the CNS and how CMT can address them
340(2)
Cross-correction in a dish
342(2)
Secretion studies in vitro
344(4)
Uptake and storage depletion
348(2)
Delivery of cells to the CNS
350(8)
Evidence of cross-correction within the CNS
358(8)
Anticipated advances and aspirations
366(2)
Summary
368(1)
Acknowledgements
368(1)
References
368(13)
Chapter 15 Inhibition of substrate synthesis: a pharmacological approach for glycosphingolipid storage disease therapy
381(28)
Frances M. Platt and Terry D. Butters
Introduction
381(1)
Glycosphingolipids
381(1)
Biosynthesis of glycosphingolipids
382(1)
Glycosphingolipid storage diseases
383(1)
Therapeutic options
384(1)
The pharmacological approach
384(6)
Imino sugars as enzyme activity modulators-chemical chaperone therapy
390(1)
Potency, specificity, and cytotoxicity of imino sugars and PDMP series compounds
391(1)
How essential are glycosphingolipids in vivo?
391(2)
Glycosphingolipid depletion is tolerated in adult mice
393(1)
Evaluation of imino sugar inhibitors in models of glucosphingolipid storage diseases
393(8)
Prospects for combination therapy in Gaucher disease
401(1)
Future compounds for substrate reduction therapy
402(1)
Current status of studies evaluating substrate reduction therapy for glucosphingolipid storage diseases
402(1)
Summary
402(1)
Acknowledgements
403(1)
References
403(6)
Chapter 16 Gene therapy
409(22)
Mark S. Sands
Introduction
409(1)
Therapeutic principle
410(1)
Barriers to effective therapy for central nervous system diseases
411(1)
Gene therapy for lysosomal storage diseases affecting the brain
411(11)
Challenges and future directions
422(2)
Summary
424(1)
Acknowledgements
425(1)
References
425(6)
Index 431