Academic Press Protein Homeostasis Diseases: Mechanisms and Novel Therapies

Protein 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. Review Examines fundamental biochemistry and molecular biology of protein homeostasis diseases, identifying and employing natural and pharmacological small molecules as therapeutic agents From the Back Cover <p>Increasing evidence suggests that a variety of human genetic disorders are associated with a decline in protein homeostasis, and the outcome of these protein homeostasis disorders can be modulated by natural and pharmacological small molecules. Although the use of natural ligands as potential treatments for common and rare protein homeostasis genetic diseases has been proposed for decades, recent advances in high throughput sequencing, as well as proteomic scale and model systems, are quickly uncovering the full impact of these natural therapies and their molecular mechanisms of action.</p> <p><i>Protein Homeostasis Diseases: Mechanisms and Novel Therapies</i> 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. Case studies of recently explored therapeutic pathways are examined in-depth. Applied chapters also provide a guidance in the employing high throughput sequencing and screening methodologies to develop pharmacological chaperones, as well as repurposing currently approved drugs to treat protein homeostasis disorders.</p> <p>Advancing research in protein folding and misfolding disease requires an integrated perspective grounded in basic physicochemical principles of protein folding and the complex nature of protein folding, transport, and degradation in vivo. Protein Homeostasis Diseases gathers expertise from across a range of scientific disciplines, in an attempt to expand the perspective of the reader on the complex problem of protein folding disorders and their treatment by small natural and pharmacological ligands.</p> About the Author Angel 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 c