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Pathogenic CLP1 p.R140H mutation alters mRNA processing in human motor neurons (total RNA-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: GSE183870 | GEO | 2021/11/01

REPOSITORIES: GEO

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