Study of the earliest intranuclear pathogenesis of the degeneration employing a novel disease model animal of ALS

Principal Investigator

Yuji Takahashi
Director, National Center Hospital, National Center of Neurology and Psychiatry
This study aims to elucidate the mechanism of spinal motor neuron (MN) degeneration caused by disruption of ERBB4, a causative gene for autosomal dominant familial amyotrophic lateral sclerosis, ALS19, using MN-specific Erbb4 conditional knock-out mice. Intranuclear pathomechanisms of MN degeneration in the earliest phase are investigated employing single cell nuclear RNA-Seq together with spatial transcriptomics, followed by functional analysis using cultured cell models and immunohistochemical studies using autopsied spinal cord specimen.

Co-Investigator

Tomohiro Kabuta
Section Chief, National Institute of Neuroscience, National Center of Neurology and Psychiatry
Tatsuo Mano
Section Chief, National Institute of Neuroscience, National Center of Neurology and Psychiatry
Satoshi Miyashita
Section Chief, National Institute of Neuroscience, National Center of Neurology and Psychiatry
Masaki Takao
Director, National Center Hospital, National Center of Neurology and Psychiatry