NIH R01 · 2024
RNA decay in amyotrophic lateral sclerosis and frontotemporal lobar degeneration
RNA decay is a critical component of RNA homeostasis. Transcriptionally active cells such as neurons have developed intricate pathways for regulating RNA turnover and balancing this process with RNA synthesis. During the initial funding period, we uncovered widespread abnormalities in RNA stability in cells from individuals with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD), implicating dysfunctional RNA clearance pathways in disease pathogenesis. We also showed that many of these abnormalities could be recapitulated by the deposition of TDP43, a nuclear RNA binding protein and splicing factor that is mislocalized to the cytoplasm in >95% of ALS patients…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.