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11. 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]
12. Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy. Richard P; Trollet C; Stojkovic T; de Becdelievre A; Perie S; Pouget J; Eymard B; Neurology; 2017 Jan; 88(4):359-365. PubMed ID: 28011929 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
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16. 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]
17. 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]
18. 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]
19. Cystamine suppresses polyalanine toxicity in a mouse model of oculopharyngeal muscular dystrophy. Davies JE; Rose C; Sarkar S; Rubinsztein DC Sci Transl Med; 2010 Jun; 2(34):34ra40. PubMed ID: 20519718 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]