Lysosomal disorders of the brain: advances in molecular and cellular pathogenesis and treatment
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Oxford
Oxford Univ. Press
2004
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XXVII, 447 S. Ill., graph. Darst. |
| ISBN: | 0198508786 |
Internformat
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| 245 | 1 | 0 | |a Lysosomal disorders of the brain |b advances in molecular and cellular pathogenesis and treatment |c ed. by Frances M. Platt ... |
| 264 | 1 | |a Oxford |b Oxford Univ. Press |c 2004 | |
| 300 | |a XXVII, 447 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 650 | 4 | |a Brain |x Metabolism |x Disorders | |
| 650 | 4 | |a Brain |x Metabolism |x Disorders |x Treatment | |
| 650 | 4 | |a Lysosomal Storage Diseases, Nervous System |x etiology | |
| 650 | 4 | |a Lysosomal Storage Diseases, Nervous System |x therapy | |
| 650 | 4 | |a Lysosomal storage disorders | |
| 650 | 4 | |a Lysosomal storage disorders |x Treatment | |
| 650 | 0 | 7 | |a Lysosomale Speicherkrankheit |0 (DE-588)4392684-8 |2 gnd |9 rswk-swf |
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| 689 | 0 | 0 | |a Gehirn |0 (DE-588)4019752-9 |D s |
| 689 | 0 | 1 | |a Lysosomale Speicherkrankheit |0 (DE-588)4392684-8 |D s |
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| 700 | 1 | |a Platt, Frances M. |e Sonstige |4 oth | |
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Datensatz im Suchindex
| _version_ | 1804130750072619008 |
|---|---|
| adam_text | Contents
List of contributors xvii
Prologue xxi
Section I Overview of lysosomes and storage diseases
Chapter 1 The endosomal lysosomal system 3
Frederick R. Maxfield and Sushmita Mukherjee
Introduction 3
The endosomal lysosomal system: the early and late endocytic
compartments 3
The endocytic process 9
Itineraries of endocytosed molecules 12
Trafficking through the endocytic recycling compartment 17
Specialized aspects of endocytosis in neurones 21
Summary 23
Acknowledgements 24
References 24
Chapter 2 Lysosomal defects and storage 32
Frances M. Platt and Steven U. Walkley
Introduction 32
Traditional classification of lysosomal storage diseases 33
Classifying lysosomal diseases on the basis of molecular defect 39
Summary 46
References 47
Chapter 3 Clinical aspects and diagnosis 50
J.Edmond Wraith
Introduction 50
General clinical presentation 50
Specific clinical presentation and progression 65
Summary 74
References 75
Section II Molecular mechanisms of storage
Chapter 4 Primary defects in lysosomal enzymes 81
Bryan G. Winchester
Introduction 81
Molecular genetics of lysosomal enzyme deficiencies 82
Relating mutations to the structure and function of lysosomal
enzymes 83
Xii I CONTENTS
Genotype/phenotype correlation in groups of neuronal storage
disorders 87
Summary 115
References 116
Chapter 5 Defects in lysosomal enzyme modification
for catalytic activity 131
Kurt von Figura, Ljudmila V. Borissenko, Jens Fey, Jianhe Peng, Bernhard
Schmidt and Thomas Dierks
Introduction 131
Clinical and biochemical background of multiple sulfatase
deficiency 131
Ca Formylglycine in sulfatases 132
Functional role of Ca formylglycine 133
Generation of Ca formylglycine in the endoplasmic reticulum 135
Structural determinants controlling Ca formylglycine formation 136
In vitro assay for Ca formylglycine formation 137
Characterization of the Ca formylglycine generating system 138
Purification of the Ca formylglycine generating system 138
Summary 139
Acknowledgements 139
References 139
Chapter 6 Defects in lysosomal enzyme trafficking 141
Andre] Hasilik and Peter Lemansky
Introduction 141
Synthesis of N acetylglucosamine l phospho 6 mannose diester groups
in lysosomal enzymes 142
The uncovering 145
Mannose 6 phosphate dependent packaging 147
Defects and alterations in the mannose 6 phosphate dependent
targeting 151
Mannose 6 phosphate independent lysosomal targeting 154
Dephosphorylation and degradation of lysosomal enzymes 155
Sequelae of targeting defects 158
Summary 158
References 159
Chapter 7 Defects in lysosomal enzyme protection:
galactosialidosis 170
Alessandra d Azzo
Introduction 170
Protective protein/cathepsin A is a component of a lysosomal
multi enzyme complex 171
Molecular, biochemical, and structural properties of protective
protein/cathepsin A 171
CONTENTS | Xl ii
Protective protein/cathepsin A is a
multifunctional protein 173
Human protective protein/cathepsin A deficiency 173
Pathology 174
Molecular and biochemical defects 175
Mouse model of galactosialidosis 176
Summary 181
Acknowledgements 181
References 181
Chapter 8 Defects in activator proteins and other soluble
proteins of the lysosome 186
Oliver Macheleidt, Thomas Kolter and Konrad Sandhoff
Introduction 186
Glycosphingolipid structure, function, and biosynthesis 186
Lysosomal glycosphingolipid catabolism 187
GM2 Activator protein 190
Sphingolipid activator proteins derived from prosaposin 193
Clinical aspects of activator protein deficiencies 195
Pathophysiology of Niemann Pick disease type C 197
Summary 198
References 199
Chapter 9 Defects in transmembrane proteins 206
Yiannis A. Ioannou
Introduction 206
The endosomal/lysosomal v ATPase 208
Niemann Pick C disease 211
Neuronal ceroid lipofuscinoses—Batten disease 214
Salla disease 215
Danon disease 216
Cystinosis 217
Mucolipidosis type IV 218
Summary 219
Acknowledgements 220
References 220
Section III Model systems and pathophysiological mechanisms
Chapter 10 Simple non mammalian systems 231
David A. Pearce
Introduction 231
Proteins associated with lysosomal storage diseases and their
orthologues in model organisms 232
Studies of orthologous proteins associated with lysosomal storage
diseases 232
Biogenesis and trafficking to the lysosome 241
Xiv CONTENTS
Proteins associated with disease and with lysosome biogenesis and their
orthologues in model organisms 246
Studies of orthologous proteins implicated in disease that are involved
in lysosome biogenesis 249
Summary 250
Acknowledgements 250
References 250
Chapter 11 Spontaneous and engineered mammalian storage
disease models 257
John }. Hopwood, Allison C. Crawley and Rosanne M. Taylor
Sphingolipidoses 257
Mucopolysaccharidoses 266
Glycoproteinoses 266
Glycogen lysosomal storage disorders 266
Mucolipidoses 276
Neuronal ceroid lipofuscinoses 276
Summary 279
Editors note 279
References 279
Chapter 12 Pathogenic cascades and brain dysfunction 290
Steven U. Walkley
Introduction 290
A clinical maelstrom 290
The pathogenic cascade in brain 291
The why, where, and what of storage 292
The cellular consequences of storage 301
Functional assessment of brain 312
Summary 316
Acknowledgements 316
References 316
Section IV Treatment of storage diseases
Chapter 13 Enzyme replacement therapy 327
Elizabeth F. Neufeld
Introduction 327
Enzyme replacement therapy is based on the process of
endocytosis 327
Endocytosis of lysosomal enzymes is receptor mediated 328
Early attempts at enzyme replacement were unsuccessful 329
The first successful enzyme replacement therapy was treatment
of type I Gaucher disease with macrophage targeted
glucocerebrosidase 330
Enzyme replacement therapy is at various stages of development for
several other lysosomal storage diseases 330
CONTENTS XV
General considerations for enzyme replacement in lysosomal storage
disorders 332
Can the blood brain barrier be circumvented? 333
Is there currently any role for enzyme replacement for lysosomal
disorders with a neurologic component? 334
Summary 334
Acknowledgements 335
References 335
Chapter 14 Cell mediated delivery systems 339
Kostantin Dobrenis
Introduction 339
Basic principles of cell mediated therapy 339
The challenges of the CNS and how CMT can address them 340
Cross correction in a dish 342
Secretion studies in vitro 344
Uptake and storage depletion 348
Delivery of cells to the CNS 350
Evidence of cross correction within the CNS 358
Anticipated advances and aspirations 366
Summary 368
Acknowledgements 368
References 368
Chapter 15 Inhibition of substrate synthesis: a pharmacological
approach for glycosphingolipid storage disease
therapy 381
Frances M. Platt and Terry D. Butters
Introduction 381
Glycosphingolipids 381
Biosynthesis of glycosphingolipids 382
Glycosphingolipid storage diseases 383
Therapeutic options 384
The pharmacological approach 384
Imino sugars as enzyme activity modulators—chemical chaperone
therapy 390
Potency, specificity, and cytotoxicity of imino sugars and PDMP series
compounds 391
How essential are glycosphingolipids in vivo7. 391
Glycosphingolipid depletion is tolerated in adult mice 393
Evaluation of imino sugar inhibitors in models of glucosphingolipid
storage diseases 393
Prospects for combination therapy in Gaucher disease 401
Future compounds for substrate reduction therapy 402
Current status of studies evaluating substrate reduction therapy for
glucosphingolipid storage diseases 402
Summary 402
XVI j CONTENTS
Acknowledgements 403
References 403
Chapter 16 Gene therapy 409
Mark S. Sands
Introduction 409
Therapeutic principle 410
Barriers to effective therapy for central nervous system diseases 411
Gene therapy for lysosomal storage diseases affecting the brain 411
Challenges and future directions 422
Summary 424
Acknowledgements 425
References 425
Index 431
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| illustrated | Illustrated |
| indexdate | 2024-07-09T19:25:59Z |
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| isbn | 0198508786 |
| language | English |
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| physical | XXVII, 447 S. Ill., graph. Darst. |
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| publisher | Oxford Univ. Press |
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| spelling | Lysosomal disorders of the brain advances in molecular and cellular pathogenesis and treatment ed. by Frances M. Platt ... Oxford Oxford Univ. Press 2004 XXVII, 447 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Brain Metabolism Disorders Brain Metabolism Disorders Treatment Lysosomal Storage Diseases, Nervous System etiology Lysosomal Storage Diseases, Nervous System therapy Lysosomal storage disorders Lysosomal storage disorders Treatment Lysosomale Speicherkrankheit (DE-588)4392684-8 gnd rswk-swf Gehirn (DE-588)4019752-9 gnd rswk-swf Gehirn (DE-588)4019752-9 s Lysosomale Speicherkrankheit (DE-588)4392684-8 s b DE-604 Platt, Frances M. Sonstige oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010931426&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Lysosomal disorders of the brain advances in molecular and cellular pathogenesis and treatment Brain Metabolism Disorders Brain Metabolism Disorders Treatment Lysosomal Storage Diseases, Nervous System etiology Lysosomal Storage Diseases, Nervous System therapy Lysosomal storage disorders Lysosomal storage disorders Treatment Lysosomale Speicherkrankheit (DE-588)4392684-8 gnd Gehirn (DE-588)4019752-9 gnd |
| subject_GND | (DE-588)4392684-8 (DE-588)4019752-9 |
| title | Lysosomal disorders of the brain advances in molecular and cellular pathogenesis and treatment |
| title_auth | Lysosomal disorders of the brain advances in molecular and cellular pathogenesis and treatment |
| title_exact_search | Lysosomal disorders of the brain advances in molecular and cellular pathogenesis and treatment |
| title_full | Lysosomal disorders of the brain advances in molecular and cellular pathogenesis and treatment ed. by Frances M. Platt ... |
| title_fullStr | Lysosomal disorders of the brain advances in molecular and cellular pathogenesis and treatment ed. by Frances M. Platt ... |
| title_full_unstemmed | Lysosomal disorders of the brain advances in molecular and cellular pathogenesis and treatment ed. by Frances M. Platt ... |
| title_short | Lysosomal disorders of the brain |
| title_sort | lysosomal disorders of the brain advances in molecular and cellular pathogenesis and treatment |
| title_sub | advances in molecular and cellular pathogenesis and treatment |
| topic | Brain Metabolism Disorders Brain Metabolism Disorders Treatment Lysosomal Storage Diseases, Nervous System etiology Lysosomal Storage Diseases, Nervous System therapy Lysosomal storage disorders Lysosomal storage disorders Treatment Lysosomale Speicherkrankheit (DE-588)4392684-8 gnd Gehirn (DE-588)4019752-9 gnd |
| topic_facet | Brain Metabolism Disorders Brain Metabolism Disorders Treatment Lysosomal Storage Diseases, Nervous System etiology Lysosomal Storage Diseases, Nervous System therapy Lysosomal storage disorders Lysosomal storage disorders Treatment Lysosomale Speicherkrankheit Gehirn |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010931426&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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