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Article

The Clp1 R140H mutation alters tRNA metabolism and mRNA 3' processing in mouse models of pontocerebellar hypoplasia.

Proceedings of the National Academy of Sciences of the United States of America - 28 Sept 2021

Monaghan Caitlin E, Adamson Scott I, Kapur Mridu, Chuang Jeffrey H, Ackerman Susan L

Abstract excerpt

Homozygous mutation of the RNA kinase CLP1 (cleavage factor polyribonucleotide kinase subunit 1) causes pontocerebellar hypoplasia type 10 (PCH10), a pediatric neurodegenerative disease. CLP1 is associated with the transfer RNA (tRNA) splicing endonuclease complex and the cleavage and polyadenylation machinery, but its function remains unclear. We generated two mouse models of PCH10: one homozygous for the...

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Identifiers

PMID: 34548404
DOI: 10.1073/pnas.2110730118
PMCID: PMC8488643

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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