| 1 | OPMD, PABPN1
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| Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.
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| Robinson DO, Hilton-Jones D, Mansfield D, Hildebrand GD, Marks S, Mechan D, Ramsay J.
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| Neuromuscul Disord. 21(11):809-11. 2011
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| 2 | OPMD, PABPN1
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| Structural basis for a PABPN1 aggregation-preventing antibody fragment in OPMD.
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| Impagliazzo A, Tepper AW, Verrips TC, Ubbink M, van der Maarel SM.
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| FEBS Lett 584(8):1558-64. Epub 2010 Mar 10.
2010
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| 3 | PABPN1, OPMD
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| Induction of expression and co-localization of heat shock polypeptides with the polyalanine expansion mutant of poly(A)-binding protein N1 after chemical stress.
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| Wang Q, Bag J.
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| Biochem Biophys Res Commun 370(1):11-5. Epub 2008 Mar 14. 2008
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| 4 | PABPN1, OPMD
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| Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation.
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| Davies JE, Sarkar S, Rubinsztein DC.
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| Hum Mol Genet 17(8):1097-108. Epub 2008 Jan 4. 2008
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| 5 | OPMD, PABPN1, SIRT2
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| Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1.
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| Catoire H, Pasco MY, Abu-Baker A, Holbert S, Tourette C, Brais B, Rouleau GA, Parker JA, Néri C.
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| Hum Mol Genet 17(14):2108-17. Epub 2008 Apr 7.
2008
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| 6 | OPMD, PABPN1
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| PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression.
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| Klein AF, Ebihara M, Alexander C, Dicaire MJ, Sasseville AM, Langelier Y, Rouleau GA, Brais B.
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| Exp Cell Res 314(8):1652-66. Epub 2008 Feb 23.PMID: 18367172 2008
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| 7 | OPMD,PABPN1
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| Effect of oculopharyngeal muscular dystrophy-associated extension of seven alanines on the fibrillation properties of the N-terminal domain of PABPN1.
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| Lodderstedt G, Hess S, Hause G, Scheuermann T, Scheibel T, Schwarz E.
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| FEBS J 274(2):346-55. 2007
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| 8 | OPMD, PABPN1
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| Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies.
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| Abu-Baker A, Rouleau GA.
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| Biochim Biophys Acta 1772(2):173-85. Epub 2006 Oct 11. Review.
2007
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| 9 | PABPN1, OPMD
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| Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy.
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| Davies JE, Sarkar S, Rubinsztein DC.
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| Hum Mol Genet 15(1):23-31. Epub 2005 Nov 25. 2006
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| 10 | OPMD, PABPN1
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| Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody.
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| Verheesen P, de Kluijver A, van Koningsbruggen S, de Brij M, de Haard HJ, van Ommen GJ, van der Maarel SM, Verrips CT.
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| Hum Mol Genet 15(1):105-11. Epub 2005 Nov 30. 2006
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| 11 | OPMD,PABPN1
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| Ectopic expression of a polyalanine expansion mutant of poly(A)-binding protein N1 in muscle cells in culture inhibits myogenesis.
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| Wang Q, Bag J.
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| Biochem Biophys Res Commun 340(3):815-22. Epub 2005 Dec 21. 2006
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| 12 | PABPN1, OPMD
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| 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.
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| Robinson DO, Hammans SR, Read SP, Sillibourne J.
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| Hum Genet 116(4):267-71. Epub 2005 Jan 12. 2005
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| 13 | OPMD, PABPN1
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| Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy.
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| Abu-Baker A, Laganiere S, Fan X, Laganiere J, Brais B, Rouleau GA.
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| Traffic 6(9):766-79. 2005
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| 14 | OPMD, PABPN1
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| Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
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| Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I.
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| Neuromuscul Disord 15(3):262-4. Epub 2005 Jan 28. 2005
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| 15 | OPMD, PABPN1
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| Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus.
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| Berciano MT, Villagra NT, Ojeda JL, Navascues J, Gomes A, Lafarga M, Carmo-Fonseca M.
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| Hum Mol Genet 13(8):829-38. Epub 2004 Feb 19. 2004
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| 16 | OPMD, PABPN1
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| Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy.
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| Abu-Baker A, Messaed C, Laganiere J, Gaspar C, Brais B, Rouleau GA.
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| Hum Mol Genet 12(20):2609-23. Epub 2003 Aug 27. 2003
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| 17 | OPMD, PABPN1
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| Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease.
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| Brais B.
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| Cytogenet Genome Res 100(1-4):252-60. 2003
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| 18 | OPMD, PABPN1
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| Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death.
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| Fan X, Dion P, Laganiere J, Brais B, Rouleau GA.
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| Hum Mol Genet 10(21):2341-51. 2001
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| 19 | OPMD, PABPN1
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| GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy.
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| Mirabella M, Silvestri G, de Rosa G, Di Giovanni S, Di Muzio A, Uncini A, Tonali P, Servidei S.
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| Neurology 54(3):608-14. 2000
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| 20 | OPMD, PABPN1
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| Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
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| Calado A, Tome FM, Brais B, Rouleau GA, Kuhn U, Wahle E, Carmo-Fonseca M.
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| Hum Mol Genet 9(15):2321-8. 2000
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| 21 | OPMD, PABPN1
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| Unique PABP2 mutations in Cajuns suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry.
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| Scacheri PC, Garcia C, Hebert R, Hoffman EP.
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| Am J Med Genet 86(5):477-81 1999
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| 22 | OPMD
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| Genetic mapping and haplotype analysis of oculopharyngeal muscular dystrophy.
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| Grewal RP, et al.
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| Neuroreport 9 : 961-965. 1998
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| 23 | OPMD
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| No evidence for heterogeneity in oculopharyngeal muscular dystrophy.
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| Kress W, et al.
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| J Med Genet 35 : 613-614. 1998
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| 24 | OPMD, PABPN1
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| Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2-q13.
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| Xie YG, et al.
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| Genomics 52 : 201-204. 1998
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| 25 | OPMD
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| Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency.
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| Porschke H, Kress W, Reichmann H, Goebel HH, Grimm T.
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| Neuromuscul Disord 7 Suppl 1:S57-62. 1997
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| 26 | OPMD
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| Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation.
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| Stajich JM, Gilchrist JM, Lennon F, Lee A, Yamaoka L, Rosi B, Gaskell PC, Pritchard M, Donald L, Roses AD, Vance JM, Pericak-Vance MA.
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| Neuromuscul Disord 7 Suppl 1:S75-81. 1997
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| 27 | OPMD
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| Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13.
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| Stajich JM, et al.
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| Ann Neurol 40 : 801-804. 1996
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| 28 | OPMD
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| The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13.
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| Brais B, et al.
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| Hum Mol Genet 4 : 429-434. 1995
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