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OverviewProtein Homeostasis Diseases: Mechanisms and Novel Therapies offers an interdisciplinary examination of the fundamental aspects, biochemistry and molecular biology of protein homeostasis disease, including the use of natural and pharmacological small molecules to treat common and rare protein homeostasis disorders. Contributions from international experts discuss the biochemical and genetic components of protein homeostasis disorders, the mechanisms by which genetic variants may cause loss-of-function and gain-of-toxic-function, and how natural ligands can restore protein function and homeostasis in genetic diseases. Applied chapters provide guidance on employing high throughput sequencing and screening methodologies to develop pharmacological chaperones and repurpose approved drugs to treat protein homeostasis disorders. Full Product DetailsAuthor: Angel L. Pey (Associate Professor, Department of Physical Chemistry, University of Granada, Granada, Spain)Publisher: Elsevier Science Publishing Co Inc Imprint: Academic Press Inc Weight: 0.810kg ISBN: 9780128191323ISBN 10: 0128191325 Pages: 450 Publication Date: 19 February 2020 Audience: Professional and scholarly , Professional & Vocational Format: Paperback Publisher's Status: Active Availability: Manufactured on demand  We will order this item for you from a manufactured on demand supplier. Table of ContentsI. Introduction of protein folding and homeostasis 1. Protein folding: how, why, and beyond 2. Protein homeostasis and disease II. Protein folding and homeostasis at the organismal and proteomic scales 3. Caenorhabditis elegans as a model organism for protein homeostasis diseases 4. Proteome-scale studies of protein stability 5. Classifying disease-associated variants using measures of protein activity and stability III. Protein homeostasis disturbance in disease: Genetics, mechanisms, and modulation by natural ligands 6. Protein destabilization and degradation as a mechanism for hereditary disease 7. Detection of amyloid aggregation in living systems 8. Molecular mechanisms of amyloid aggregation in human proteinopathies 9. Metals and amyloid gain-of-toxic mechanisms in neurodegenerative diseases 10. Vitamin B6-dependent enzymes and disease 11. Galactosemia: opportunities for novel therapies 12. Protein homeostasis and regulation of intracellular trafficking of G protein-coupled receptors 13. Structure-guided discovery of pharmacological chaperones targeting protein conformational and misfolding diseases 14. Virtual screening in drug discovery: a precious tool for a still-demanding challenge 15. Differential scanning fluorimetry in the screening and validation of pharmacological chaperones for soluble and membrane proteins 16. Cellular high-throughput screening 17. High-throughput screening for intrinsically disordered proteins by using biophysical methods 18. Natural and pharmacological chaperones against accelerated protein degradation: uroporphyrinogen III synthase and congenital erythropoietic porphyriaReviewsAuthor InformationAngel L. Pey obtained his Bachelor degree in Chemistry in 1999 at the Universidad Complutense in Madrid and his Ph.D. in Molecular Biology at the Universidad Autónoma in Madrid in 2004. His Ph.D. focused on genotype-phenotype correlations in Phenylketonuria and the molecular basis of tetrahydrobiopterin-responsive patients with this disease. In 2004, he moved as a post-doc to the lab directed by Prof. Aurora Martinez at the Department of Biomedicine of the University of Bergen (Norway) to work with novel structure-based and biophysical studies on phenylketonuria and therapeutic approaches for this disease based on pharmacological chaperones. In 2009, he moved to the Department of Physical Chemistry, University of Granada, to work as a Ramón y Cajal Fellow. He established his own line of research combining approaches from different disciplines (molecular and cellular biology, structural and computational biology, biochemistry and biophysics) to get an integrative view into the molecular basis and genotype-phenotype correlations in several rare and common hereditary diseases. In 2019, he was appointed as Associated Professor in Physical Chemistry. Over the years, he has taught in different programs on Enzymology, Advanced biophysical techniques, General and Physical Chemistry, and mentored several Ph.D., Master and undergraduate students. He is author of over 70 peer-reviewed scientific papers and book chapters. Tab Content 6Author Website:Countries AvailableAll regions |
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