Associated Papers
Renpenning syndrome related to a missense variant in polyglutamine-binding protein 1 (PQBP1): Two pediatric cases from a Chinese family and literature review.
Pan J et al.
Applied Neuropsychology. Child, 2025
Role of PQBP1 in Pathogen Recognition-Impact on Innate Immunity.
Wiench L et al.
Viruses, 2024
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Courraud J et al.
Molecular Psychiatry, 2024
The role of PQBP1 in neural development and function.
Cheng S et al.
Biochemical Society Transactions, 2023
The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor.
Liu X et al.
The Journal of Biological Chemistry, 2020
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
D'Gama AM et al.
Neuron, 2015
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation.
Lopez-Martín S et al.
Applied Neuropsychology. Child, 0
Select a paper to view details