Related Experiment Video
Updated: Aug 9, 2025
12:01
Induction of Protein Deletion Through In Utero Electroporation to Define Deficits in Neuronal Migration in Transgenic Models
Published on: January 12, 2015
10.3K
The role of PQBP1 in neural development and function
Shanshan Cheng1, Xian Liu1, Linjuan Yuan1
1School of Life Science and Technology, the Key Laboratory of Developmental Genes and Human Disease, Southeast University, 2 Sipailou Rd, Nanjing 210096, China.
Biochemical Society Transactions
|February 23, 2023
Summary
Polyglutamine tract-binding protein 1 (PQBP1) mutations cause Renpenning syndrome, impacting neural development. This review details PQBP1
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Mutations in the polyglutamine tract-binding protein 1 (PQBP1) gene are linked to Renpenning syndrome.
- Renpenning syndrome presents with microcephaly, intellectual disability, short stature, and distinctive facial features.
- PQBP1 is crucial for normal neural development and function.
Conclusions:
- PQBP1 plays a multifaceted role in neural development and cognitive function.
- Understanding PQBP1's mechanisms offers insights into Renpenning syndrome.
- These findings may facilitate the development of novel therapeutic strategies for Renpenning syndrome.
