PQBP1

Polyglutamine binding protein 1, also known as PQBP1, is a human gene.cite web | title = Entrez Gene: PQBP1 polyglutamine binding protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10084| accessdate = ]

PBB_Summary
section_title =
summary_text = PQBP1 is a nuclear polyglutamine-binding protein that contains a WW domain (Waragai et al., 1999). [supplied by OMIM] cite web | title = Entrez Gene: PQBP1 polyglutamine binding protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10084| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Fox P, Fox D, Gerrard JW |title=X-linked mental retardation: Renpenning revisited. |journal=Am. J. Med. Genet. |volume=7 |issue= 4 |pages= 491–5 |year= 1981 |pmid= 7211958 |doi= 10.1002/ajmg.1320070409
*cite journal | author=Stevenson RE, Arena JF, Ouzts E, "et al." |title=Renpenning syndrome maps to Xp11. |journal=Am. J. Hum. Genet. |volume=62 |issue= 5 |pages= 1092–101 |year= 1998 |pmid= 9545405 |doi=
*cite journal | author=Deqaqi SC, N'Guessan M, Forner J, "et al." |title=A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11. |journal=Ann. Genet. |volume=41 |issue= 1 |pages= 11–6 |year= 1998 |pmid= 9599645 |doi=
*cite journal | author=Imafuku I, Waragai M, Takeuchi S, "et al." |title=Polar amino acid-rich sequences bind to polyglutamine tracts. |journal=Biochem. Biophys. Res. Commun. |volume=253 |issue= 1 |pages= 16–20 |year= 1999 |pmid= 9875212 |doi= 10.1006/bbrc.1998.9725
*cite journal | author=Komuro A, Saeki M, Kato S |title=Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription. |journal=Nucleic Acids Res. |volume=27 |issue= 9 |pages= 1957–65 |year= 1999 |pmid= 10198427 |doi=
*cite journal | author=Waragai M, Lammers CH, Takeuchi S, "et al." |title=PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival. |journal=Hum. Mol. Genet. |volume=8 |issue= 6 |pages= 977–87 |year= 1999 |pmid= 10332029 |doi=
*cite journal | author=Komuro A, Saeki M, Kato S |title=Association of two nuclear proteins, Npw38 and NpwBP, via the interaction between the WW domain and a novel proline-rich motif containing glycine and arginine. |journal=J. Biol. Chem. |volume=274 |issue= 51 |pages= 36513–9 |year= 2000 |pmid= 10593949 |doi=
*cite journal | author=Waragai M, Junn E, Kajikawa M, "et al." |title=PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain. |journal=Biochem. Biophys. Res. Commun. |volume=273 |issue= 2 |pages= 592–5 |year= 2000 |pmid= 10873650 |doi= 10.1006/bbrc.2000.2992
*cite journal | author=Zhang Y, Lindblom T, Chang A, "et al." |title=Evidence that dim1 associates with proteins involved in pre-mRNA splicing, and delineation of residues essential for dim1 interactions with hnRNP F and Npw38/PQBP-1. |journal=Gene |volume=257 |issue= 1 |pages= 33–43 |year= 2001 |pmid= 11054566 |doi=
*cite journal | author=Iwamoto K, Huang Y, Ueda S |title=Genomic organization and alternative transcripts of the human PQBP-1 gene. |journal=Gene |volume=259 |issue= 1-2 |pages= 69–73 |year= 2001 |pmid= 11163963 |doi=
*cite journal | author=Okazawa H, Rich T, Chang A, "et al." |title=Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. |journal=Neuron |volume=34 |issue= 5 |pages= 701–13 |year= 2002 |pmid= 12062018 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Kalscheuer VM, Freude K, Musante L, "et al." |title=Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. |journal=Nat. Genet. |volume=35 |issue= 4 |pages= 313–5 |year= 2004 |pmid= 14634649 |doi= 10.1038/ng1264
*cite journal | author=Lenski C, Abidi F, Meindl A, "et al." |title=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. |journal=Am. J. Hum. Genet. |volume=74 |issue= 4 |pages= 777–80 |year= 2004 |pmid= 15024694 |doi=
*cite journal | author=Brandenberger R, Wei H, Zhang S, "et al." |title=Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. |journal=Nat. Biotechnol. |volume=22 |issue= 6 |pages= 707–16 |year= 2005 |pmid= 15146197 |doi= 10.1038/nbt971
*cite journal | author=Kleefstra T, Franken CE, Arens YH, "et al." |title=Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). |journal=Clin. Genet. |volume=66 |issue= 4 |pages= 318–26 |year= 2005 |pmid= 15355434 |doi= 10.1111/j.1399-0004.2004.00308.x
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Andersen JS, Lam YW, Leung AK, "et al." |title=Nucleolar proteome dynamics. |journal=Nature |volume=433 |issue= 7021 |pages= 77–83 |year= 2005 |pmid= 15635413 |doi= 10.1038/nature03207
*cite journal | author=Stevenson RE, Bennett CW, Abidi F, "et al." |title=Renpenning syndrome comes into focus. |journal=Am. J. Med. Genet. A |volume=134 |issue= 4 |pages= 415–21 |year= 2005 |pmid= 15782410 |doi= 10.1002/ajmg.a.30664
*cite journal | author=Marubuchi S, Wada Y, Okuda T, "et al." |title=Polyglutamine tract-binding protein-1 dysfunction induces cell death of neurons through mitochondrial stress. |journal=J. Neurochem. |volume=95 |issue= 3 |pages= 858–70 |year= 2005 |pmid= 16104847 |doi= 10.1111/j.1471-4159.2005.03405.x

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