May 18, 2021

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Chai et al. discover that loss of splicing factors PPIL1 and PRP17 leads to a neurodegenerative brain disease, and even though they are an enzyme-substrate pair, they function instead to scaffold the spliceosome.

 Neuron

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