Education
PhD
University of Science and Technology of China
2009
Overview
Amyotrophic lateral sclerosis (ALS) is characterized by the degeneration of both upper and lower motor neurons, which leads to muscle weakness and eventually paralysis. Mutations in genes causing ALS include SOD1, FUS/TLS, TDP-43, OPTN, VAPB, VCP, UBQLN2, PFN1, MATR3, SQSTM1 and C9ORF72. Among ALS associated proteins, TDP-43 and FUS are RNA-binding proteins that form aggregates in ALS and FTLD, and when mutated can drive the pathogenesis of these disorders. Protein and RNA homeostasis are two major themes in the studies of neurodegenerative diseases including ALS/FTLD. Protein quality control has an important regulatory role in cellular function. RNA metabolism incudes a series of distinct processes including RNA splicing, transport and stability, as well as the biogenesis of non-coding small RNAs. My work is focusing on the interplay between the protein- and RNA-based mechanisms driving the dysregulated cellular processes in ALS/FTLD, which provides new perspectives on pathogenesis and intervention.