Citations for
1OPMD, PABPN1
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. 21(11):809-11. 2011
2OPMD, PABPN1
Structural basis for a PABPN1 aggregation-preventing antibody fragment in OPMD.
Impagliazzo A, Tepper AW, Verrips TC, Ubbink M, van der Maarel SM.
FEBS Lett 584(8):1558-64. Epub 2010 Mar 10. 2010
3PABPN1
Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.
Trollet C, Anvar SY, Venema A, Hargreaves IP, Foster K, Vignaud A, Ferry A, Negroni E, Hourde C, Baraibar MA, 't Hoen PA, Davies JE, Rubinsztein DC, Heales SJ, Mouly V, van der Maarel SM, Butler-Browne G, Raz V, Dickson G.
Hum Mol Genet. 19(11):2191-207. 2010
4PABPN1, OPMD
Induction of expression and co-localization of heat shock polypeptides with the polyalanine expansion mutant of poly(A)-binding protein N1 after chemical stress.
Wang Q, Bag J.
Biochem Biophys Res Commun 370(1):11-5. Epub 2008 Mar 14. 2008
5PABPN1, OPMD
Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation.
Davies JE, Sarkar S, Rubinsztein DC.
Hum Mol Genet 17(8):1097-108. Epub 2008 Jan 4. 2008
6OPMD, PABPN1, SIRT2
Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1.
Catoire H, Pasco MY, Abu-Baker A, Holbert S, Tourette C, Brais B, Rouleau GA, Parker JA, Néri C.
Hum Mol Genet 17(14):2108-17. Epub 2008 Apr 7. 2008
7OPMD, PABPN1
PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression.
Klein AF, Ebihara M, Alexander C, Dicaire MJ, Sasseville AM, Langelier Y, Rouleau GA, Brais B.
Exp Cell Res 314(8):1652-66. Epub 2008 Feb 23.PMID: 18367172 2008
8PABPN1
Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1.
Catoire H, Pasco MY, Abu-Baker A, Holbert S, Tourette C, Brais B, Rouleau GA, Parker JA, Néri C.
Hum Mol Genet. 17(14):2108-17. 2008
9OPMD,PABPN1
Effect of oculopharyngeal muscular dystrophy-associated extension of seven alanines on the fibrillation properties of the N-terminal domain of PABPN1.
Lodderstedt G, Hess S, Hause G, Scheuermann T, Scheibel T, Schwarz E.
FEBS J 274(2):346-55. 2007
10OPMD, PABPN1
Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies.
Abu-Baker A, Rouleau GA.
Biochim Biophys Acta 1772(2):173-85. Epub 2006 Oct 11. Review. 2007
11PABPN1, OPMD
Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy.
Davies JE, Sarkar S, Rubinsztein DC.
Hum Mol Genet 15(1):23-31. Epub 2005 Nov 25. 2006
12OPMD, PABPN1
Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody.
Verheesen P, de Kluijver A, van Koningsbruggen S, de Brij M, de Haard HJ, van Ommen GJ, van der Maarel SM, Verrips CT.
Hum Mol Genet 15(1):105-11. Epub 2005 Nov 30. 2006
13OPMD,PABPN1
Ectopic expression of a polyalanine expansion mutant of poly(A)-binding protein N1 in muscle cells in culture inhibits myogenesis.
Wang Q, Bag J.
Biochem Biophys Res Commun 340(3):815-22. Epub 2005 Dec 21. 2006
14PABPN1, OPMD
Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.
Robinson DO, Hammans SR, Read SP, Sillibourne J.
Hum Genet 116(4):267-71. Epub 2005 Jan 12. 2005
15OPMD, PABPN1
Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy.
Abu-Baker A, Laganiere S, Fan X, Laganiere J, Brais B, Rouleau GA.
Traffic 6(9):766-79. 2005
16OPMD, PABPN1
Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I.
Neuromuscul Disord 15(3):262-4. Epub 2005 Jan 28. 2005
17OPMD, PABPN1
Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus.
Berciano MT, Villagra NT, Ojeda JL, Navascues J, Gomes A, Lafarga M, Carmo-Fonseca M.
Hum Mol Genet 13(8):829-38. Epub 2004 Feb 19. 2004
18OPMD, PABPN1
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy.
Abu-Baker A, Messaed C, Laganiere J, Gaspar C, Brais B, Rouleau GA.
Hum Mol Genet 12(20):2609-23. Epub 2003 Aug 27. 2003
19OPMD, PABPN1
Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease.
Brais B.
Cytogenet Genome Res 100(1-4):252-60. 2003
20PABPN1
HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy.
Fan X, Messaed C, Dion P, Laganiere J, Brais B, Karpati G, Rouleau GA.
Can J Neurol Sci. 30(3):244-51. 2003
21PABPN1
Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy.
Hino H, Araki K, Uyama E, Takeya M, Araki M, Yoshinobu K, Miike K, Kawazoe Y, Maeda Y, Uchino M, Yamamura K.
Hum Mol Genet. 13(2):181-90. 2003
22CARM1, PABPC1, PABPN1, PRMT2
PABP1 identified as an arginine methyltransferase substrate using high-density protein arrays.
Lee J, Bedford MT.
EMBO Rep 3(3):268-73. 2002
23INPP5K, PABPN1, SNW1
The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.
Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K.
Hum Mol Genet 10(11):1129-39. 2001
24OPMD, PABPN1
Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death.
Fan X, Dion P, Laganiere J, Brais B, Rouleau GA.
Hum Mol Genet 10(21):2341-51. 2001
25OPMD, PABPN1
GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy.
Mirabella M, Silvestri G, de Rosa G, Di Giovanni S, Di Muzio A, Uncini A, Tonali P, Servidei S.
Neurology 54(3):608-14. 2000
26PABPN1
Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)(11) in PABP2 gene.
Nagashima T, Kato H, Kase M, Maguchi S, Mizutani Y, Matsuda K, Chuma T, Mano Y, Goto Y, Minami N, Nonaka I, Nagashima K.
Neuromuscul Disord 10(3):173-7. 2000
27OPMD, PABPN1
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
Calado A, Tome FM, Brais B, Rouleau GA, Kuhn U, Wahle E, Carmo-Fonseca M.
Hum Mol Genet 9(15):2321-8. 2000
28PABPN1
Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy.
Uyama E, Tsukahara T, Goto K, Kurano Y, Ogawa M, Kim YJ, Uchino M, Arahata K.
Muscle Nerve 23(10):1549-54. 2000
29OPMD, PABPN1
Unique PABP2 mutations in Cajuns suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry.
Scacheri PC, Garcia C, Hebert R, Hoffman EP.
Am J Med Genet 86(5):477-81 1999
30PABPN1
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, Lafreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M, Rouleau GA.
Nat Genet 18(2):164-7. Erratum in: Nat Genet 1998 Aug;19(4):404. Korcyn AD [corrected to Korczyn AD]. 1998
31OPMD, PABPN1
Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2-q13.
Xie YG, et al.
Genomics 52 : 201-204. 1998
32PABPN1
Isolation of genomic and cDNA clones encoding bovine poly(A) binding protein II.
Nemeth A, et al.
Nucleic Acids Res 23(20):4034-41 1995
33PABPN1
Immunodetection of poly(A) binding protein II in the cell nucleus.
Krause S, et al.
Exp Cell Res 214(1):75-82 1994
34PABPN1
Assembly of a processive messenger RNA polyadenylation complex.
Bienroth S, et al.
EMBO J 12(2):585-94 1993
35PABPC1, PABPN1
Mammalian poly(A)-binding protein II. Physical properties and binding to polynucleotides.
Wahle E, et al.
J Biol Chem 268(4):2937-45 1993