Citations for
1CGAS, PQBP1
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.
Cell 161(6):1293-1305. doi: 10.1016/j.cell.2015.04.050. 2015
2PQBP1, TXNL4A
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.
Nat Commun 5:3822. doi: 10.1038/ncomms4822. 2014
3PQBP1
Segmental isotope-labeling of the intrinsically disordered protein PQBP1.
Nabeshima Y, Mizuguchi M, Kajiyama A, Okazawa H.
FEBS Lett 588(24):4583-9. doi: 10.1016/j.febslet.2014.10.028. Epub 2014 Nov 4. 2014
4PQBP1, WBP11
The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling.
Iwasaki Y, Thomsen GH.
Development 141(19):3740-51. doi: 10.1242/dev.106658. Epub 2014 Sep 10. 2014
5DNM2, PQBP1
The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neurons.
Ikeuchi Y, de la Torre-Ubieta L, Matsuda T, Steen H, Okazawa H, Bonni A.
Cell Rep 4(5):879-89. doi: 10.1016/j.celrep.2013.07.042. Epub 2013 Aug 29. 2013
6PQBP1, SOX2
Sox2 transcriptionally regulates PQBP1, an intellectual disability-microcephaly causative gene, in neural stem progenitor cells.
Li C, Ito H, Fujita K, Shiwaku H, Qi Y, Tagawa K, Tamura T, Okazawa H.
PLoS One 8(7):e68627. doi: 10.1371/journal.pone.0068627. Print 2013. 2013
7PQBP1
PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.
Wang Q, Moore MJ, Adelmant G, Marto JA, Silver PA.
Genes Dev 27(6):615-26. doi: 10.1101/gad.212308.112. 2013
8GIHS, PQBP1
Molecular insights into the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1.
Sudol M, McDonald CB, Farooq A.
FEBS Lett 586(17):2795-9. doi: 10.1016/j.febslet.2012.03.041. Epub 2012 Mar 28. Review. 2012
9PQBP1
Comparative genetics of the poly-Q tract of ataxin-1 and its binding protein PQBP-1.
Kurosaki T, Gojobori J, Ueda S.
Biochem Genet 50(3-4):309-17. doi: 10.1007/s10528-011-9473-1. Epub 2011 Oct 1. 2012
10PQBP1, RENS1
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
Germanaud D, Rossi M, Bussy G, Gérard D, Hertz-Pannier L, Blanchet P, Dollfus H, Giuliano F, Bennouna-Greene V, Sarda P, Sigaudy S, Curie A, Vincent MC, Touraine R, des Portes V.
Clin Genet 79(3):225-35. doi: 10.1111/j.1399-0004.2010.01551.x. Epub 2010 Oct 18. 2011
11PQBP1
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.
Hum Mol Genet 20(24):4916-31. doi: 10.1093/hmg/ddr430. Epub 2011 Sep 20. 2011
12PQBP1, RENS1, SHS
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
Musante L, Kunde SA, Sulistio TO, Fischer U, Grimme A, Frints SG, Schwartz CE, Martínez F, Romano C, Ropers HH, Kalscheuer VM.
Hum Mutat 31(1):90-8.PMID: 19847789 2010
13GIHS, PQBP1, RENS1, WBP11
Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.
Tapia VE, Nicolaescu E, McDonald CB, Musi V, Oka T, Inayoshi Y, Satteson AC, Mazack V, Humbert J, Gaffney CJ, Beullens M, Schwartz CE, Landgraf C, Volkmer R, Pastore A, Farooq A, Bollen M, Sudol M.
J Biol Chem 285(25):19391-401. Epub 2010 Apr 21.PMID: 20410308 2010
14PQBP1, TXNL4A
Polyglutamine tract-binding protein-1 binds to U5-15kD via a continuous 23-residue segment of the C-terminal domain.
Takahashi M, Mizuguchi M, Shinoda H, Aizawa T, Demura M, Okazawa H, Kawano K.
Biochim Biophys Acta 1804(7):1500-7. doi: 10.1016/j.bbapap.2010.03.007. Epub 2010 Mar 20. 2010
15PQBP1
Polyglutamine tract binding protein-1 is an intrinsically unstructured protein.
Takahashi M, Mizuguchi M, Shinoda H, Aizawa T, Demura M, Okazawa H, Kawano K.
Biochim Biophys Acta 1794(6):936-43. Epub 2009 Mar 17.PMID: 19303059 2009
16PQBP1, WBP11
Nature of the nuclear inclusions formed by PQBP1, a protein linked to neurodegenerative polyglutamine diseases.
Nicolaescu E, Beullens M, Lesage B, Keppens S, Himpens B, Bollen M.
Eur J Cell Biol 87(10):817-29. Epub 2008 Jul 2.PMID: 18599155 2008
17PQBP1, RENS1, SHS
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
Martinez-Garay I, Tomas M, Oltra S, Ramser J, Molto MD, Prieto F, Meindl A, Kutsche K, Martinez F.
Eur J Hum Genet 15(1):29-34. Epub 2006 Oct 11. 2007
18ACSL4, AFF2, AGTR2, ARHGEF6, ARX, ATRX, DLG3, ESMR, FTSJ1, GDI1, IL1RAPL1, KDM5C, MECP2, MRX68, MRX89, MRX90, MRXS31, NLGN3, NLGN4X, OPHN1, PQBP1, RPS6KA3, RTTM, SLC16A2, SLC6A8, SYN1, TSPAN7, ZNF41
X linked mental retardation: a clinical guide.
Raymond FL.
J Med Genet 43(3):193-200. Epub 2005 Aug 23. 2006
19MRX55, PQBP1
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
Cossee M, Demeer B, Blanchet P, Echenne B, Singh D, Hagens O, Antin M, Finck S, Vallee L, Dollfus H, Hegde S, Springell K, Thelma BK, Woods G, Kalscheuer V, Mandel JL.
Eur J Hum Genet 14(4):418-25. 2006
20PQBP1
PQBP-1 is expressed predominantly in the central nervous system during development.
Qi Y, Hoshino M, Wada Y, Marubuchi S, Yoshimura N, Kanazawa I, Shinomiya K, Okazawa H.
Eur J Neurosci 22(6):1277-86. 2005
21PQBP1, RENS1, SHS
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).
Kleefstra T, Franken CE, Arens YH, Ramakers GJ, Yntema HG, Sistermans EA, Hulsmans CF, Nillesen WN, van Bokhoven H, de Vries BB, Hamel BC.
Clin Genet 66(4):318-26. 2004
22WBP11, PQBP1
SIPP1, a novel pre-mRNA splicing factor and interactor of protein phosphatase-1.
Llorian M, Beullens M, Andres I, Ortiz JM, Bollen M.
Biochem J 378(Pt 1):229-38. 2004
23MRX55, PQBP1, RENS1
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE.
Am J Hum Genet 74(4):777-80. No abstract available. 2004
24PQBP1, MRX55, SHS
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gecz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Tao J, Van Bokhoven H, Turner G, Chelly J, Moraine C, Fryns JP, Nuber U, Hoeltzenbein M, Scharff C, Scherthan H, Lenzner S, Hamel BC, Schweiger S, Ropers HH.
Nat Genet 35(4):313-5. Epub 2003 Nov 23. 2003
25PQBP1
Genomic organization and alternative transcripts of the human PQBP-1 gene.
Iwamoto K, Huang Y, Ueda S.
Gene 259(1-2):69-73. 2000
26POU3F2, PQBP1
PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival.
Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H.
Hum Mol Genet 8(6):977-87. 1999