The role of PQBP1 in neural development and function.

Abstract

Mutations in the polyglutamine tract-binding protein 1 (PQBP1) gene are associated with Renpenning syndrome, which is characterized by microcephaly, intellectual deficiency, short stature, small testes, and distinct facial dysmorphism. Studies using different models have revealed that PQBP1 plays essential roles in neural development and function. In this mini-review, we summarize recent findings relating to the roles of PQBP1 in these processes, including in the regulation of neural progenitor proliferation, neural projection, synaptic growth, neuronal survival, and cognitive function via mRNA transcription and splicing-dependent or -independent processes. The novel findings provide insights into the mechanisms underlying the pathogenesis of Renpenning syndrome and may advance drug discovery and treatment for this condition.

• Authors: Shanshan Cheng, Xian Liu, Linjuan Yuan, Nan Wang, Zi Chao Zhang, Junhai Han
• Journal: Biochemical Society transactions (Biochem Soc Trans) Vol. 51 Issue 1 Pg. 363-372 (02 27 2023) ISSN: 1470-8752 [Electronic] England
• PMID: 36815699 (Publication Type: Review, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2023 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society.

Chemical References

• Carrier Proteins
• PQBP1 protein, human
• DNA-Binding Proteins

Topics

• Humans
• Carrier Proteins (chemistry)
• Mental Retardation, X-Linked (genetics, pathology)
• Mutation
• Cerebral Palsy (genetics, pathology)
• Intellectual Disability (genetics)
• DNA-Binding Proteins (genetics)