[HT-08] Hot Topics 08「New insights into ALS: genes, proteins, and pathways」

[HT-08-4] TDP-43 regulates cryptic splicing of UNC13A, a key risk gene for ALS/FTD

Yuka Koike (Department of Molecular Neuroscience, Japan)

I earned an MD degree from Niigata University, followed by intensive neurology training, during which I served at various hospitals in Niigata Prefecture, including Niigata University Medical and Dental Hospital. Concurrently, I embarked on my PhD research journey, focusing on unraveling the molecular pathogenesis of neurodegenerative diseases. After earning my PhD, I continued my academic pursuits at Mayo Clinic Florida. I am presently involved in neurodegenerative disease research within the Department of Molecular Neuroscience while also practicing as a neurologist. My research contributions focused on RNA metabolism and DNA methylation in amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD). We have focused on the autoregulatory mechanism of TDP-43 in ALS/FTD pathogenesis and clarified its epigenetic modifiers.