Article

Molecular consequences of <i>PQBP1</i> deficiency, involved in the X-linked Renpenning syndrome

2022-05-30

Abstract excerpt

Mutations in the PQBP1 gene (polyglutamine-binding protein 1) are responsible for a syndromic X-linked form of intellectual disability (XLID), the Renpenning syndrome. PQBP1 encodes a protein that plays a role in the regulation of gene expression, splicing and mRNA translation. To investigate the consequences of variants in PQBP1 , we performed transcriptomic studies in 1) patients’ lymphoblastoid cell lines (L...

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Literature Corpus work: 5a40faff-9ad6-5979-a091-8e482d706b9d
DOI: 10.1101/2022.05.29.493091

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