AUTHOR=Inoue Ken TITLE=Cellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum Stress JOURNAL=Frontiers in Molecular Biosciences VOLUME=Volume 4 - 2017 YEAR=2017 URL=https://www.frontiersin.org/journals/molecular-biosciences/articles/10.3389/fmolb.2017.00007 DOI=10.3389/fmolb.2017.00007 ISSN=2296-889X ABSTRACT=
Disease-causing mutations in genes encoding membrane proteins may lead to the production of aberrant polypeptides that accumulate in the endoplasmic reticulum (ER). These mutant proteins have detrimental conformational changes or misfolding events, which result in the triggering of the unfolded protein response (UPR). UPR is a cellular pathway that reduces ER stress by generally inhibiting translation, increasing ER chaperones levels, or inducing cell apoptosis in severe ER stress. This process has been implicated in the cellular pathology of many neurological disorders, including Pelizaeus-Merzbacher disease (PMD). PMD is a rare pediatric disorder characterized by the failure in the myelination process of the central nervous system (CNS). PMD is caused by mutations in the