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References

These sources were used to develop the Genetics Home Reference gene summary on the PQBP1 gene.

Cossée 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. Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. Eur J Hum Genet. 2006 Apr;14(4):418-25. PubMed citation
Entrez Gene
Flynn M, Zou YS, Milunsky A. Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. Am J Med Genet A. 2011 Jan;155A(1):141-4. doi: 10.1002/ajmg.a.33756. Epub 2010 Dec 9. PubMed citation
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. The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. Clin Genet. 2011 Mar;79(3):225-35. doi: 10.1111/j.1399-0004.2010.01551.x. Epub 2010 Oct 18. PubMed citation
Kleefstra T, Franken CE, Arens YH, Ramakers GJ, Yntema HG, Sistermans EA, Hulsmans CF, Nillesen WN, van Bokhoven H, de Vries BB, Hamel BC. Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Clin Genet. 2004 Oct;66(4):318-26. PubMed citation
Kunde SA, Musante L, Grimme A, Fischer U, Müller E, Wanker EE, Kalscheuer VM. The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules. Hum Mol Genet. 2011 Dec 15;20(24):4916-31. doi: 10.1093/hmg/ddr430. Epub 2011 Sep 20. PubMed citation
Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. 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. Am J Hum Genet. 2004 Apr;74(4):777-80. PubMed citation
Lubs H, Abidi FE, Echeverri R, Holloway L, Meindl A, Stevenson RE, Schwartz CE. Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. J Med Genet. 2006 Jun;43(6):e30. PubMed citation
Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. Eur J Hum Genet. 2007 Jan;15(1):29-34. Epub 2006 Oct 11. PubMed citation
Musante L, Kunde SA, Sulistio TO, Fischer U, Grimme A, Frints SG, Schwartz CE, Martínez F, Romano C, Ropers HH, Kalscheuer VM. Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Hum Mutat. 2010 Jan;31(1):90-8. doi: 10.1002/humu.21146. PubMed citation
Okazawa H, Sudol M, Rich T. PQBP-1 (Np/PQ): a polyglutamine tract-binding and nuclear inclusion-forming protein. Brain Res Bull. 2001 Oct-Nov 1;56(3-4):273-80. Review. PubMed citation
OMIM: POLYGLUTAMINE-BINDING PROTEIN 1
Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE. Renpenning syndrome comes into focus. Am J Med Genet A. 2005 May 1;134(4):415-21. PubMed citation
Takahashi M, Mizuguchi M, Shinoda H, Aizawa T, Demura M, Okazawa H, Kawano K. Polyglutamine tract binding protein-1 is an intrinsically unstructured protein. Biochim Biophys Acta. 2009 Jun;1794(6):936-43. doi: 10.1016/j.bbapap.2009.03.001. Epub 2009 Mar 17. PubMed citation
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. Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. J Biol Chem. 2010 Jun 18;285(25):19391-401. doi: 10.1074/jbc.M109.084525. Epub 2010 Apr 21. PubMed citation


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