Warning: The NCBI web site requires JavaScript to function. more...
Generate a file for use with external citation management software.
Atrophy, fibrosis, and increased PAX7-positive cells in pharyngeal muscles of oculopharyngeal muscular dystrophy patients.
Gidaro T, Negroni E, Perié S, Mirabella M, Lainé J, Lacau St Guily J, Butler-Browne G, Mouly V, Trollet C.
J Neuropathol Exp Neurol. 2013 Mar;72(3):234-43. doi: 10.1097/NEN.0b013e3182854c07.
Related citations
Polyadenylation-dependent control of long noncoding RNA expression by the poly(A)-binding protein nuclear 1.
Beaulieu YB, Kleinman CL, Landry-Voyer AM, Majewski J, Bachand F.
PLoS Genet. 2012;8(11):e1003078. doi: 10.1371/journal.pgen.1003078. Epub 2012 Nov 15.
Poly(A) binding protein C1 is essential for efficient L1 retrotransposition and affects L1 RNP formation.
Dai L, Taylor MS, O'Donnell KA, Boeke JD.
Mol Cell Biol. 2012 Nov;32(21):4323-36. doi: 10.1128/MCB.06785-11. Epub 2012 Aug 20.
Oculopharyngeal muscular dystrophy --an under-diagnosed disease in China? Report a China-born Chinese with PABPN1 mutation and epidemiology review of the literature.
Chien YY.
J Formos Med Assoc. 2012 Jul;111(7):397-402. doi: 10.1016/j.jfma.2011.06.017. Epub 2012 May 3. Review.
Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation.
de Klerk E, Venema A, Anvar SY, Goeman JJ, Hu O, Trollet C, Dickson G, den Dunnen JT, van der Maarel SM, Raz V, 't Hoen PA.
Nucleic Acids Res. 2012 Oct;40(18):9089-101. doi: 10.1093/nar/gks655. Epub 2012 Jul 6.
Peptide backbone conformation affects the substrate preference of protein arginine methyltransferase I.
Kölbel K, Ihling C, Kühn U, Neundorf I, Otto S, Stichel J, Robaa D, Beck-Sickinger AG, Sinz A, Wahle E.
Biochemistry. 2012 Jul 10;51(27):5463-75. Epub 2012 Jun 27.
PABPN1 shuts down alternative poly(A) sites.
Simonelig M.
Cell Res. 2012 Oct;22(10):1419-21. doi: 10.1038/cr.2012.86. Epub 2012 May 29.
Polyalanine-independent conformational conversion of nuclear poly(A)-binding protein 1 (PABPN1).
Winter R, Kühn U, Hause G, Schwarz E.
J Biol Chem. 2012 Jun 29;287(27):22662-71. doi: 10.1074/jbc.M112.362327. Epub 2012 May 8.
Expression of the polyalanine expansion mutant of nuclear poly(A)-binding protein induces apoptosis via the p53 pathway.
Bhattacharjee RB, Zannat T, Bag J.
Cell Biol Int. 2012 Aug 1;36(8):697-704. doi: 10.1042/CBI20110348.
The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites.
Jenal M, Elkon R, Loayza-Puch F, van Haaften G, Kühn U, Menzies FM, Oude Vrielink JA, Bos AJ, Drost J, Rooijers K, Rubinsztein DC, Agami R.
Cell. 2012 Apr 27;149(3):538-53. doi: 10.1016/j.cell.2012.03.022. Epub 2012 Apr 12.
Nuclear speckles are involved in nuclear aggregation of PABPN1 and in the pathophysiology of oculopharyngeal muscular dystrophy.
Bengoechea R, Tapia O, Casafont I, Berciano J, Lafarga M, Berciano MT.
Neurobiol Dis. 2012 Apr;46(1):118-29. doi: 10.1016/j.nbd.2011.12.052. Epub 2012 Jan 10.
Oculopharyngeal muscular dystrophy associated with dementia.
Mizoi Y, Yamamoto T, Minami N, Ohkuma A, Nonaka I, Nishino I, Tamura N, Amano T, Araki N.
Intern Med. 2011;50(20):2409-12. Epub 2011 Oct 15.
RNA-binding proteins and gene regulation in myogenesis.
Apponi LH, Corbett AH, Pavlath GK.
Trends Pharmacol Sci. 2011 Nov;32(11):652-8. doi: 10.1016/j.tips.2011.06.004. Epub 2011 Oct 6. Review.
Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy.
Dubbioso R, Moretta P, Manganelli F, Fiorillo C, Iodice R, Trojano L, Santoro L.
J Neurol. 2012 May;259(5):833-7. doi: 10.1007/s00415-011-6255-y. Epub 2011 Sep 29.
Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein.
Raz V, Routledge S, Venema A, Buijze H, van der Wal E, Anvar S, Straasheijm KR, Klooster R, Antoniou M, van der Maarel SM.
Am J Pathol. 2011 Oct;179(4):1988-2000. doi: 10.1016/j.ajpath.2011.06.044. Epub 2011 Aug 18.
Reversible aggregation of PABPN1 pre-inclusion structures.
Raz V, Abraham T, van Zwet EW, Dirks RW, Tanke HJ, van der Maarel SM.
Nucleus. 2011 May-Jun;2(3):208-18. doi: 10.4161/nucl.2.3.15736.
Arginine methylation of the nuclear poly(a) binding protein weakens the interaction with its nuclear import receptor, transportin.
Fronz K, Güttinger S, Burkert K, Kühn U, Stöhr N, Schierhorn A, Wahle E.
J Biol Chem. 2011 Sep 23;286(38):32986-94. doi: 10.1074/jbc.M111.273912. Epub 2011 Aug 1.
Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.
Robinson DO, Hilton-Jones D, Mansfield D, Hildebrand GD, Marks S, Mechan D, Ramsay J.
Neuromuscul Disord. 2011 Nov;21(11):809-11. doi: 10.1016/j.nmd.2011.06.003. Epub 2011 Jul 13.
A GCG expansion (GCG)₁₁ in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family.
Ye J, Zhang H, Zhou Y, Wu H, Wang C, Shi X.
Mol Vis. 2011;17:1350-4. Epub 2011 May 25.
Oculopharyngeal muscle dystrophy: fine structure and mRNA expression levels of PABPN1.
Schröder JM, Klossok T, Weis J.
Clin Neuropathol. 2011 May-Jun;30(3):94-103.
Filters: Manage Filters
Your browsing activity is empty.
Activity recording is turned off.
Turn recording back on