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- W3124233757 abstract "In this issue of <i>Neuron</i>, 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 short introns." @default.
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- W3124233757 date "2021-01-01" @default.
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- W3124233757 title "Splicing Control of Pontocerebellar Development" @default.
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- W3124233757 doi "https://doi.org/10.1016/j.neuron.2020.12.021" @default.
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