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5. 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]
6. Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy. van der Sluijs BM; Raz V; Lammens M; van den Heuvel LP; Voermans NC; van Engelen BG J Neuromuscul Dis; 2016 Mar; 3(1):101-109. PubMed ID: 27854203 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Progress on gene therapy, cell therapy, and pharmacological strategies toward the treatment of oculopharyngeal muscular dystrophy. Harish P; Malerba A; Dickson G; Bachtarzi H Hum Gene Ther; 2015 May; 26(5):286-92. PubMed ID: 25860803 [TBL] [Abstract][Full Text] [Related]
9. 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; 2004 Jan; 13(2):181-90. PubMed ID: 14645203 [TBL] [Abstract][Full Text] [Related]
10. 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]
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12. 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]
13. Animal model of oculopharyngeal muscular dystrophy. Uyama E; Hino H; Araki K; Takeya M; Uchino M; Yamamura K Acta Myol; 2005 Oct; 24(2):84-8. PubMed ID: 16550922 [TBL] [Abstract][Full Text] [Related]
14. PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions. Corbeil-Girard LP; Klein AF; Sasseville AM; Lavoie H; Dicaire MJ; Saint-Denis A; Pagé M; Duranceau A; Codère F; Bouchard JP; Karpati G; Rouleau GA; Massie B; Langelier Y; Brais B Neurobiol Dis; 2005 Apr; 18(3):551-67. PubMed ID: 15755682 [TBL] [Abstract][Full Text] [Related]
15. A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging. Anvar SY; Raz Y; Verway N; van der Sluijs B; Venema A; Goeman JJ; Vissing J; van der Maarel SM; 't Hoen PA; van Engelen BG; Raz V Aging (Albany NY); 2013 Jun; 5(6):412-26. PubMed ID: 23793615 [TBL] [Abstract][Full Text] [Related]
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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. Induction of HSP70 expression and recruitment of HSC70 and HSP70 in the nucleus reduce aggregation of a polyalanine expansion mutant of PABPN1 in HeLa cells. Wang Q; Mosser DD; Bag J Hum Mol Genet; 2005 Dec; 14(23):3673-84. PubMed ID: 16239242 [TBL] [Abstract][Full Text] [Related]
19. A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation. Nishii YS; Noto YI; Yasuda R; Kitaoji T; Ashida S; Tanaka E; Minami N; Nishino I; Mizuno T BMC Neurol; 2021 Jul; 21(1):265. PubMed ID: 34225694 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]