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7. Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology. Vest KE; Phillips BL; Banerjee A; Apponi LH; Dammer EB; Xu W; Zheng D; Yu J; Tian B; Pavlath GK; Corbett AH Hum Mol Genet; 2017 Sep; 26(17):3235-3252. PubMed ID: 28575395 [TBL] [Abstract][Full Text] [Related]
8. 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; 2010 Jun; 19(11):2191-207. PubMed ID: 20207626 [TBL] [Abstract][Full Text] [Related]
9. Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. Abu-Baker A; Rouleau GA Biochim Biophys Acta; 2007 Feb; 1772(2):173-85. PubMed ID: 17110089 [TBL] [Abstract][Full Text] [Related]
10. 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; 2006 Jan; 15(1):105-11. PubMed ID: 16319127 [TBL] [Abstract][Full Text] [Related]
11. Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy. Mankodi A; Wheeler TM; Shetty R; Salceies KM; Becher MW; Thornton CA Neurobiol Dis; 2012 Jan; 45(1):539-46. PubMed ID: 21964252 [TBL] [Abstract][Full Text] [Related]
12. 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; 2003 Aug; 30(3):244-51. PubMed ID: 12945950 [TBL] [Abstract][Full Text] [Related]
13. Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy. Fan X; Rouleau GA Can J Neurol Sci; 2003 Feb; 30(1):8-14. PubMed ID: 12619777 [TBL] [Abstract][Full Text] [Related]
14. Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients. Nadaj-Pakleza A; Richard P; Lusakowska A; Gajewska J; Jamrozik Z; Kostera-Pruszczyk A; Kwieciński H; Kamińska A Neurol Neurochir Pol; 2009; 43(2):113-20. PubMed ID: 19484687 [TBL] [Abstract][Full Text] [Related]
15. Established PABPN1 intranuclear inclusions in OPMD muscle can be efficiently reversed by AAV-mediated knockdown and replacement of mutant expanded PABPN1. Malerba A; Klein P; Lu-Nguyen N; Cappellari O; Strings-Ufombah V; Harbaran S; Roelvink P; Suhy D; Trollet C; Dickson G Hum Mol Genet; 2019 Oct; 28(19):3301-3308. PubMed ID: 31294444 [TBL] [Abstract][Full Text] [Related]
16. 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; 2005 Sep; 6(9):766-79. PubMed ID: 16101680 [TBL] [Abstract][Full Text] [Related]
17. Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy. Raz V; Sterrenburg E; Routledge S; Venema A; van der Sluijs BM; Trollet C; Dickson G; van Engelen BG; van der Maarel SM; Antoniou MN BMC Neurol; 2013 Jul; 13():70. PubMed ID: 23815790 [TBL] [Abstract][Full Text] [Related]
18. Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder. Davies JE; Berger Z; Rubinsztein DC Int J Biochem Cell Biol; 2006; 38(9):1457-62. PubMed ID: 16530457 [TBL] [Abstract][Full Text] [Related]
19. Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation. Davies JE; Sarkar S; Rubinsztein DC Hum Mol Genet; 2008 Apr; 17(8):1097-108. PubMed ID: 18178579 [TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 23399899 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]