Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia.

ABSTRACT: A delicate intracellular balance among protein synthesis, folding, and degradation is essential to maintaining protein homeostasis or proteostasis, and it is challenged by genetic and environmental factors. Molecular chaperones and the ubiquitin proteasome system (UPS) play a vital role in proteostasis for normal cellular function. As part of protein quality control, molecular chaperones recognize misfolded proteins and assist in their refolding. Proteins that are beyond repair or refolding undergo degradation, which is largely mediated by the UPS. The importance of protein quality control is becoming ever clearer, but it can also be a disease-causing mechanism. Diseases such as phenylketonuria (PKU) and hereditary tyrosinemia-I (HT1) are caused due to mutations in PAH and FAH gene, result

SUBMITTER: Sarodaya N 

PROVIDER: S-EPMC7404301 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature