Protein Folding Diseases—Molecular Mechanisms and Therapeutic Approaches

Dear Colleagues,

Protein misfolding, a process that can occur due to genetic, environment or sporadic factors such as adverse intracellular conditions, is a hallmark of numerous pathologies, commonly referred to as protein folding diseases or conformational disorders. In these cases, a change in protein conformation may impair its biological function, causing functional deficiency or accelerated degradation, resulting in loss of function, or promote its accumulation as aggregates such as amyloids, resulting in toxic gain of function. Examples of such pathologies include several metabolic diseases (e.g., phenylketonuria, cystic fibrosis), chaperonopathies (e.g., macular neurodegeneration, cataracts), and neurodegenerative conditions (e.g., Alzheimer’s, Parkinson’s, amyotrophic lateral sclerosis). For the majority of these pathologies, the link between protein defects and disease is well-known, but to most, the molecular mechanism associated to the emergence of the pathological state is yet to be established, which constitutes a major gap in the development of effective therapies. Therefore, in this issue, we seek to collect contributions that address disease mechanisms contributing to better understanding protein misfolding in the pathophysiological context. Further, we welcome research dealing with potential therapeutic approaches aimed at minimizing protein misfolding that can exert their action directly by mitigating protein misfolding, including biologics (antibodies or peptides) and folding correctors (including pharmacological chaperones) or through regulation of the proteostasis network.

Prof. Dr. Cláudio M. Gomes
Dr. Bárbara J. Henriques
Guest Editors

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