National Institute of Neurological Disorders and Stroke 1R21NS145545-01

Mechanisms of altered RNA transport dynamics by Kif1C mutations in heterospastic paraplegia

NIH grant awarded to Emory University to study RNA transport dynamics affected by KIF1C mutations in neurodegenerative disease SPG58 using human neuronal models.

Description

This NIH grant project aims to develop a human stem cell-derived neuronal model to investigate the role of KIF1C in RNA transport and its alterations in heterospastic paraplegia (SPG58). The study uses CRISPR-induced KIF1C knockout cells differentiated into motor neurons to identify RNA-binding proteins and mRNA targets dependent on KIF1C, analyze transport dynamics, and evaluate rescue phenotypes with pathogenic variants. The research seeks to uncover disease-specific targets and mechanisms, providing insights into neurodegenerative disease pathology and therapeutic development.

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