| Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression. | Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression.
Liu X, Zhang J, Wang Z, Yan M, Xu M, Li G, Shender V, Wei JJ, Li J, Shao C, Zhang S, Kong B, Song K, Liu Z., Free PMC Article | 04/23/2024 |
| The role of PQBP1 in neural development and function. | The role of PQBP1 in neural development and function.
Cheng S, Liu X, Yuan L, Wang N, Zhang ZC, Han J. | 02/28/2023 |
| PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity. | PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity.
Tanaka H, Okazawa H., Free PMC Article | 06/18/2022 |
| Novel regulation of the eEF2K/eEF2 pathway: prospects of 'PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation'. | Novel regulation of the eEF2K/eEF2 pathway: prospects of 'PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation'.
Shen Y, Han J, Zhang ZC., Free PMC Article | 02/19/2022 |
| Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation. | Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation.
Jin M, Shiwaku H, Tanaka H, Obita T, Ohuchi S, Yoshioka Y, Jin X, Kondo K, Fujita K, Homma H, Nakajima K, Mizuguchi M, Okazawa H., Free PMC Article | 12/18/2021 |
| Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability. | Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability.
Chen YW, Rahman SK., Free PMC Article | 05/1/2021 |
| PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation. | PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation.
Shen Y, Zhang ZC, Cheng S, Liu A, Zuo J, Xia S, Liu X, Liu W, Jia Z, Xie W, Han J. | 04/17/2021 |
| Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population. | Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.
Mongelli A, Magri S, Salvatore E, Rizzo E, De Rosa A, Fico T, Gatti M, Gellera C, Taroni F, Mariotti C, Nanetti L. | 02/27/2021 |
| Renpenning syndrome in an Indian patient. | Renpenning syndrome in an Indian patient.
Masih S, Moirangthem A, Phadke SR. | 01/16/2021 |
| Renpenning syndrome in a female. | Renpenning syndrome in a female.
Cho RY, Peñaherrera MS, Du Souich C, Huang L, Mwenifumbo J, Nelson TN, Elliott AM, Adam S, CAUSES Study, Eydoux P, Yang GX, Chijiwa C, Van Allen MI, Friedman JM, Robinson WP, Lehman A. | 01/9/2021 |
| The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin beta2 receptor. | The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor.
Liu X, Dou LX, Han J, Zhang ZC., Free PMC Article | 12/12/2020 |
| X-linked hemizygous truncating mutation in PQBP1 gene is associated with Microphthalmos-anophthalmos-coloboma spectrum in Renpenning syndrome. | Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene.
Mameesh MM, Al-Kindy A, Al-Yahyai M, Ganesh A. | 08/12/2020 |
| We studied the binding of PQBP-1 variants to the labelled peptide which is phosphorylated at positions 2 and 5 (YpSPTpSPS) and found that this interaction is significantly weakened in the two mutants. | Frameshift PQBP-1 mutants K192S(fs*7) and R153S(fs*41) implicated in X-linked intellectual disability form stable dimers.
Rahman SK, Okazawa H, Chen YW. | 06/6/2020 |
| This report expands the phenotypic spectrum of PQBP1-related disorders and is the second reported missense PQBP1 variant. | Phenotypic and molecular insights into PQBP1-related intellectual disability.
Abdel-Salam GMH, Miyake N, Abdel-Hamid MS, Sayed ISM, Gadelhak MI, Ismail SI, Aglan MS, Afifi HH, Temtamy SA, Matsumoto N. | 09/28/2019 |
| PQBP1 inhibits IFI16/cGAS-induced signaling in response to cytosolic DNA. | Polyglutamine binding protein 1 (PQBP1) inhibits innate immune responses to cytosolic DNA.
Shannon JL, Murphy MS, Kantheti U, Burnett JM, Hahn MG, Dorrity TJ, Bacas CJ, Mattice EB, Corpuz KD, Barker BR. | 02/16/2019 |
| Results from a study on gene expression variability markers in early-stage human embryos shows that PQBP1 is a putative expression variability marker for the 3-day, 8-cell embryo stage. | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
Hasegawa Y, Taylor D, Ovchinnikov DA, Wolvetang EJ, de Torrenté L, Mar JC., Free PMC Article | 07/23/2018 |
| The WW domain belonging to polyglutamine tract-binding protein 1 (PQBP1) is of particular interest due to its direct involvement in several X chromosome-linked intellectual disabilities, including Golabi-Ito-Hall (GIH) syndrome, where a single point mutation (Y65C) correlates with the development of the disease. The mutant cannot bind to its natural ligand WBP11, which regulates mRNA processing | Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome.
Pucheta-Martinez E, D'Amelio N, Lelli M, Martinez-Torrecuadrada JL, Sudol M, Saladino G, Gervasio FL., Free PMC Article | 04/21/2018 |
| 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 function may be beneficial for those patients | Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction.
Zhang XY, Qi J, Shen YQ, Liu X, Liu A, Zhou Z, Han J, Zhang ZC. | 05/20/2017 |
| results suggest that the interaction between PQBP1 and WBP11 negatively modulates the U5-15kD binding of PQBP1 by an allosteric mechanism | Allosteric modulation of the binding affinity between PQBP1 and the spliceosomal protein U5-15kD.
Mizuguchi M, Obita T, Kajiyama A, Kozakai Y, Nakai T, Nabeshima Y, Okazawa H. | 04/29/2017 |
| Study found that PQBP1 directly binds to reverse-transcribed HIV-1 DNA and interacts with cGAS to initiate an IRF3-dependent innate response. | PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1.
Yoh SM, Schneider M, Seifried J, Soonthornvacharin S, Akleh RE, Olivieri KC, De Jesus PD, Ruan C, de Castro E, Ruiz PA, Germanaud D, des Portes V, García-Sastre A, König R, Chanda SK., Free PMC Article | 08/22/2015 |
| Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD. | Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD.
Mizuguchi M, Obita T, Serita T, Kojima R, Nabeshima Y, Okazawa H. | 12/20/2014 |
| The results of this study addressed that the relationship between gene dose and phenotype relationship of dPQBP1 and investigated the mechanism responsible for the lifespan shortening' | A restricted level of PQBP1 is needed for the best longevity of Drosophila.
Tamura T, Sone M, Nakamura Y, Shimamura T, Imoto S, Miyano S, Okazawa H. | 04/27/2013 |
| These data demonstrate a role for PQBP1 in the modulation of stress granules. | The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules.
Kunde SA, Musante L, Grimme A, Fischer U, Müller E, Wanker EE, Kalscheuer VM. | 03/10/2012 |
| Data show that the PQBP1 mutation was found in 3 brothers with a phenotype comprising MR, short stature, lean body and microcephaly. | A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
Rejeb I, Ben Jemaa L, Abaied L, Kraoua L, Saillour Y, Maazoul F, Chelly J, Chaabouni H. | 10/1/2011 |
| Evidence for a functional involvement of the four mutations affecting ATRX (p.1761M4T), PQBP1 (p.155R4X), and SLC6A8 (p.390P4L and p.477S4L), in the etiology of intellectual disability. | Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW., Free PMC Article | 09/17/2011 |