Article

Human organoid model of PCH2a recapitulates brain region-specific pathology

2022-10-17

Abstract excerpt

Pontocerebellar hypoplasia type 2 a (PCH2a) is a rare, autosomal recessive pediatric disorder with limited treatment options. Its anatomical hallmark is the hypoplasia of the cerebellum and pons accompanied by progressive microcephaly. PCH2a results from a homozygous founder variant in TSEN54 , which encodes a tRNA splicing endonuclease (TSEN) complex subunit. Despite the ubiquitous expression of the TSEN complex...

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Literature Corpus work: 335b9b25-513a-5138-a75d-a0034015e464
DOI: 10.1101/2022.10.13.512020

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