Effects of HLD-associated POLR1C mutant proteins on cellular localization and differentiation

摘要

Hypomyelinating leukodystrophis (HLDs) are composed of a group of congenital central nervous system (CNS) neuropathies, which resemble prototypic Pelizaeus-Merzbacher disease (PMD, also called HLD1). They display myelin dysfunction by causing repeated demyelination and remyelination, leading to severe demyelination [[1], [2], [3], [4], [5]]. CNS myelin is derived from morphologically differentiated oligodendrocyte plasma membranes. It plays an essential role in propagation of saltatory conduction and in protecting neuronal axons from physical and physiological stresses [[6], [7], [8]].