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4. 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]
5. Proteomic analysis reveals that wildtype and alanine-expanded nuclear poly(A)-binding protein exhibit differential interactions in skeletal muscle. Banerjee A; Phillips BL; Deng Q; Seyfried NT; Pavlath GK; Vest KE; Corbett AH J Biol Chem; 2019 May; 294(18):7360-7376. PubMed ID: 30837270 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Nuclear poly(A) binding protein 1 (PABPN1) and Matrin3 interact in muscle cells and regulate RNA processing. Banerjee A; Vest KE; Pavlath GK; Corbett AH Nucleic Acids Res; 2017 Oct; 45(18):10706-10725. PubMed ID: 28977530 [TBL] [Abstract][Full Text] [Related]
9. PABPN1-Dependent mRNA Processing Induces Muscle Wasting. Riaz M; Raz Y; van Putten M; Paniagua-Soriano G; Krom YD; Florea BI; Raz V PLoS Genet; 2016 May; 12(5):e1006031. PubMed ID: 27152426 [TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 22249111 [TBL] [Abstract][Full Text] [Related]
11. A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1. Chartier A; Benoit B; Simonelig M EMBO J; 2006 May; 25(10):2253-62. PubMed ID: 16642034 [TBL] [Abstract][Full Text] [Related]
13. Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing. Klein P; Oloko M; Roth F; Montel V; Malerba A; Jarmin S; Gidaro T; Popplewell L; Perie S; Lacau St Guily J; de la Grange P; Antoniou MN; Dickson G; Butler-Browne G; Bastide B; Mouly V; Trollet C Nucleic Acids Res; 2016 Dec; 44(22):10929-10945. PubMed ID: 27507886 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. A novel feed-forward loop between ARIH2 E3-ligase and PABPN1 regulates aging-associated muscle degeneration. Raz V; Buijze H; Raz Y; Verwey N; Anvar SY; Aartsma-Rus A; van der Maarel SM Am J Pathol; 2014 Apr; 184(4):1119-1131. PubMed ID: 24486325 [TBL] [Abstract][Full Text] [Related]
16. Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy. Roth F; Dhiab J; Boulinguiez A; Mouigni HR; Lassche S; Negroni E; Muraine L; Marhic A; Oliver A; Lainé J; Rouche A; O'Ferrall EK; van Engelen B; Ottenheijm C; Greif H; Blumen S; Lacau St Guily J; Perie S; Butler-Browne G; Mouly V; Trollet C Acta Neuropathol; 2022 Dec; 144(6):1157-1170. PubMed ID: 36197469 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. PABPN1 gene therapy for oculopharyngeal muscular dystrophy. Malerba A; Klein P; Bachtarzi H; Jarmin SA; Cordova G; Ferry A; Strings V; Espinoza MP; Mamchaoui K; Blumen SC; St Guily JL; Mouly V; Graham M; Butler-Browne G; Suhy DA; Trollet C; Dickson G Nat Commun; 2017 Mar; 8():14848. PubMed ID: 28361972 [TBL] [Abstract][Full Text] [Related]
19. Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis. Chartier A; Klein P; Pierson S; Barbezier N; Gidaro T; Casas F; Carberry S; Dowling P; Maynadier L; Bellec M; Oloko M; Jardel C; Moritz B; Dickson G; Mouly V; Ohlendieck K; Butler-Browne G; Trollet C; Simonelig M PLoS Genet; 2015 Mar; 11(3):e1005092. PubMed ID: 25816335 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]