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Article

Splicing Control of Pontocerebellar Development.

Neuron - 20 Jan 2021

Paul Sharan, Scoles Daniel R, Pulst Stefan M

Abstract excerpt

In this issue of Neuron, Chai et al. (2021) analyze several families with neurodegeneration and marked pontocerebellar hypoplasia and microcephaly and identify recessive (bi-allelic) mutations in peptidyl-prolyl isomerase-like 1 (PPIL1) and pre-RNA-processing-17 (PPR17). PPIL1 patient mutation knockin mice develop neuronal apoptosis. Loss of either protein affects splicing predominantly involving GC-rich and...

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Identifiers

PMID: 33476558
DOI: 10.1016/j.neuron.2020.12.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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