Pathogenic CLP1 p.R140H mutation alters mRNA processing in human motor neurons (PAC-seq)

ABSTRACT: Pontocerebellar Hypoplasia Type 10 (PCH10) is a childhood neurodegenerative disease caused by bi-allelic p.R140H variants in CLP1, a multifunctional RNA kinase, by unknown pathophysiological mechanisms. Here, we combine novel patient data with mutation-specific in vivo and in vitro models to define motor neuron dysfunction as a penetrant, prominent feature of PCH10 and uncover a previously unrecognized mRNA misprocessing signature in motor neurons that likely contributes to pathology.

ORGANISM(S): Homo sapiens

PROVIDER: GSE183869 | GEO | 2021/11/01

REPOSITORIES: GEO