Publications by authors named "Chun-jie Luan"
Article Synopsis
- - Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder affecting the peripheral nervous system, with two main types: CMT1 (demyelinating) and CMT2 (axonal), the latter linked to nearly 30 identified genes, including DHTKD1.
- - The study explored the effects of a specific mutation in the DHTKD1 gene using a mouse model, revealing significantly lower levels of DHTKD1 expression, abnormal myelination, and sensory defects, but no motor performance issues.
- - Results suggest that the knock-in mice mimic CMT2Q patient symptoms, and increased energy metabolism may help them retain normal movement despite their neurological defects.
Introduction: Protein C deficiency is a genetic disorder caused by mutations in the protein C gene (PROC). More than 10% of nonsense and frameshift mutations carrying premature termination codons have been identified in PROC, but the exact molecular mechanisms of these mutations on the pathogenesis of protein C deficiency remain unclear.
Objective: The aim of this study is to investigate whether nonsense-mediated mRNA decay (NMD) can be a mechanism accounting for protein C deficiency.