Protein Misfolding and Disease

Protein Misfolding and Disease : Principles and Protocols

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For decades it has been known that structured conformations are important for the proper functioning of most cellular proteins. However, appreciation that protein folding to the functional conformations as well as the structural maintenance of protein molecules are very complex processes has only emerged during the last ten years. The intimate interplay uncovered by this scientific development led us to realize that perturbations of the protein folding process and disturbances of conformational maintenance are major disease mechanisms. This development has given rise to the concept of conformational diseases and the broader signature of protein folding diseases, comprising diseases in which mutations or environmental stresses may result in a partial misfolding that leads then to alternative conformations capable of disturbing cellular processes. This may happen by self-association (aggregation), as in prion and Alzheimer's diseases, or by incorporation of alternatively folded subunits into structural entities, as in collagen diseases. Another possibility is that folding to the native structure is impaired or abolished, resulting in decreased stea- state levels of the correctly folded protein, as is observed in cystic fibrosis and 1-antitrypsin deficiency, as well as in many enzyme deficiencies. In addition, deficiencies of proteins that are engaged in assisting and supervising protein folding (protein quality control) may impair the folding of many other proteins, resulting in pathological phenotypes. Examples of this are the spastic paraplegia attributable to mutations in mitochondrial protease/chaperone more

Product details

  • Hardback | 318 pages
  • 154 x 234 x 22mm | 680.4g
  • Humana Press Inc.
  • Totowa, NJ, United States
  • English
  • 2003 ed.
  • biography
  • 1588290654
  • 9781588290656

Review quote

"...a very sound book that provides a solid background in conformational disease and presents the reader with helpful experimental protocols for studying protein folding folding and misfolding." - Pharmaceutical Research "...this book will be a very useful took for specialists in protein chemistry, molecular biology and basic medicine, and also for teachers and their students studying principles of proteomics." Biochemistryshow more

Back cover copy

It has now become clear that a large number of diseases with very different pathologies share a common framework of protein misfolding, accompanied by degradation and/or aggregation of the misfolded proteins. In Protein Misfolding and Disease: Principles and Protocols, notable experts in conformational disease review the latest thinking about the molecular processes underlying these diseases and describe cutting-edge biochemical, genomic, cellular, and chemical laboratory techniques for studying their genesis and pathologies. The authors apply their carefully refined methods to a variety of metabolic and neurodegenerative disorders, as well as to the aging process. The techniques presented are broadly applicable in many diverse disease contexts and may be used in both diagnosis and detailed research on new treatment strategies. Each tried and proven protocol includes insightful background notes, lists of required equipment and reagents, step-by-step instructions, and tips on troubleshooting and on how to avoid known pitfalls. Comprehensive and cutting-edge, Protein Misfolding and Disease: Principles and Protocols offers both novice and experienced researchers a solid theoretical grounding in conformational disease and a remarkable set of analytical methodologies for uncovering its characteristics and generating new therapeutic more

Table of contents

I. General Chapters Protein Misfolding, Aggregation, and Degradation in Disease Niels Gregersen, Lars Bolund, and Peter Bross Basic Introduction to In Vivo Protein Folding and Its Defects Peter Bross and Niels Gregersen Cystic Fibrosis: Premature Degradation of Mutant Proteins as a Molecular Disease Mechanism Marina S. Gelman and Ron R. Kopito a1-Antitrypsin Deficiency: Liver Disease Associated With Retention of a Mutant Secretory Glycoprotein in the Endoplasmic Reticulum, David H. Perlmutter Parkinson's Disease: a-Synuclein and Parkin in Protein Aggregation and the Reversal of Unfolded Protein Stress Lene Diness Jakobsen and Poul Henning Jensen Aberrant Protein Folding as the Molecular Basis of Cancer Melissa D. Scott and Judith Frydman Yeast as a Model System to Investigate Protein Conformational Diseases Christina M. Coughlan and Jeffrey L. Brodsky II. General Methods Expression of Recombinant Proteins: An Introduction Jane Nohr, Karsten Kristiansen, and Anne-M. Krogsdam Expression in E. coli Systems Anne-M. Krogsdam, Karsten Kristiansen, and Jane Nohr Protein Expression in Yeasts Jane Nohr, Karsten Kristiansen, and Anne-M. Krogsdam Site-Directed Mutagenesis Jane Nohr and Karsten Kristiansen Pulse-Chase Labeling Techniques for the Analysis of Protein Maturation and Degradation Annemieke Jansens and Ineke Braakman III. Techniques in Conformational Disease Research Detection of Aggregates and Protein Inclusions by Staining of Tissues James E. Galvin Study of Mutant Proteins With Folding Defects in Cultured Patient Cells Gabriele Dodt and Claudia Walter E. coli Expression System for Identifying Folding Mutations of Human Adenosine Deaminase Ines Santisteban, Francisco X. Arredondo-Vega, Shannon Daniels, andMichael S. Hershfield Characterization of Overexpressed Mutant Proteins in Mammalian Cells Thomas Juhl Corydon Investigation of Unfolded-Protein Response in Cells Expressing Familial Alzheimer's Disease-Linked Presenilin Variants Gopal Thinakaran, James W. Bowen, Daisuke Ito, Jae-Yoon Leem, Margaret L. Veselits, and Naoyuki Sato Huntingtin Fragments Form Aggresome-Like Inclusion Bodies in Mammalian Cells Annett Boeddrich, Rudi Lurz, and Erich E. Wanker Application of Chemical Chaperones to the Rescue of Folding Defects Tip W. Loo and David M. Clarke Analysis of Defective Subunit Interactions Using the Two-Hybrid System Belen Perez, Lourdes R. Desviat, and Magdalena Ugarte Investigation of Folding and Degradation of In Vitro Synthesized Mutant Proteins in the Cytosol Lourdes R. Desviat, Belen Perez, and Magdalena Ugarte Investigation of Folding and Degradation of In Vitro Synthesized Mutant Proteins in Microsomes Alan W. Cuthbert and Will Fuller Investigation of Folding and Degradation of In Vitro Synthesized Mutant Proteins in Mitochondria Peter Bross, Vibeke Winter, Christina Bak Pedersen, and Niels Gregersen Investigation of Folding and Degradation of Mutant Proteins Synthesized in Semipermeabilized Cells Cornelia M. Wilson and Neil J. Bulleid Indexshow more