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Our data strongly support a gain-of-function pathogenic mechanism of PQBP1 c.459_462delAGAG and c.463_464dupAG mutations, and suggest that therapeutic strategies to restore FMRP (show FMR1 Proteins) function may be beneficial for those patients
results suggest that the interaction between PQBP1 and WBP11 (show WBP11 Proteins) negatively modulates the U5-15kD (show TXNL4A Proteins) binding of PQBP1 by an allosteric mechanism
Study found that PQBP1 directly binds to reverse-transcribed HIV-1 DNA and interacts with cGAS to initiate an IRF3 (show IRF3 Proteins)-dependent innate response.
Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein (show SF3B4 Proteins) U5-15 kD.
These data demonstrate a role for PQBP1 in the modulation of stress granules.
Data show that the PQBP1 mutation was found in 3 brothers with a phenotype comprising MR, short stature, lean body and microcephaly.
Evidence for a functional involvement of the four mutations affecting ATRX (show ATRX Proteins) (p.1761M4T), PQBP1 (p.155R4X), and SLC6A8 (show SLC6A8 Proteins) (p.390P4L and p.477S4L), in the etiology of intellectual disability.
Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning.
mutations in PQBP1 caused variable loss of cell adhesion from impaired vesicle trafficking disrupts the neuroepithelial lining or neuronal migration and underlies periventricular heterotopia formation
frameshift mutations in the PQBP-1 gene lead to expression of mutants lacking the ability to interact with U5-15kD (show TXNL4A Proteins)
This study demonstrated that in utero gene therapy for Pqbp1-cKO mice by intraperitoneal injection of the PQBP1-AAV vector at E10 successfully rescued microcephaly with preserved cortical structures and improved behavioral abnormalities in Pqbp1-cKO mice.
These findings define PQBP1 and Dynamin 2 (show DNM2 Proteins) as components of a signaling pathway that orchestrates neuronal ciliary morphogenesis in the brain.
The results indicated that Sox2 (show SOX2 Proteins) regulated the transcription of PQBP1 in neural stem progenitor cells.
PQBP1 can affect the alternative splicing of multiple mRNAs and indicate specific affected targets whose splice site determination may contribute to the disease phenotype in PQBP1-linked neurological disorders
PQBP1 dysfunction in regulating gene expression underlies the abnormal behavior and cognition of PQBP1-Knock-down mice.
PQBP-1 might be involved in neuronal proliferation and/or maturation
This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.
polyglutamine binding protein 1
, 38 kDa nuclear protein containing a WW domain
, nuclear protein containing WW domain 38 kD
, polyglutamine tract-binding protein 1
, polyglutamine-binding protein 1
, scurfy candidate 2