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PQBP1 encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. Additionally we are shipping PQBP1 Proteins (15) and PQBP1 Kits (3) and many more products for this protein.
Showing 10 out of 36 products:
Cow (Bovine) Polyclonal PQBP1 Primary Antibody for WB - ABIN2779540
Lim, Hao, Shaw, Patel, Szabó, Rual, Fisk, Li, Smolyar, Hill, Barabási, Vidal, Zoghbi: A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. in Cell 2006
Cow (Bovine) Polyclonal PQBP1 Primary Antibody for IHC (p), WB - ABIN1108717
Waragai, Lammers, Takeuchi, Imafuku, Udagawa, Kanazawa, Kawabata, Mouradian, Okazawa: PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival. in Human molecular genetics 1999
Study found that PQBP1 directly binds to reverse-transcribed HIV-1 DNA and interacts with cGAS to initiate an IRF3 (show IRF3 Antibodies)-dependent innate response.
Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein (show SF3B4 Antibodies) 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 Antibodies) (p.1761M4T), PQBP1 (p.155R4X), and SLC6A8 (show SLC6A8 Antibodies) (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 Antibodies)
Y65C missense mutation in the WW domain (show DRP2 Antibodies) of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing
An evaluation of X-linked mental retardation (XLMR (show DLG3 Antibodies)) pathology of PQBP1 mutations demonstrated nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
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 Antibodies) as components of a signaling pathway that orchestrates neuronal ciliary morphogenesis in the brain.
The results indicated that Sox2 (show SOX2 Antibodies) 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