274 related articles for article (PubMed ID: 17110089)
21. Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy.
Doki T; Yamashita S; Wei FY; Hara K; Yamamoto T; Zhang Z; Zhang X; Tawara N; Hino H; Uyama E; Kurashige T; Maruyama H; Tomizawa K; Ando Y
Lab Invest; 2019 Nov; 99(11):1728-1740. PubMed ID: 30894671
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. 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]
25. 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]
26. Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy.
Davies JE; Sarkar S; Rubinsztein DC
Hum Mol Genet; 2006 Jan; 15(1):23-31. PubMed ID: 16311254
[TBL] [Abstract][Full Text] [Related]
27. Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy.
Ribot C; Soler C; Chartier A; Al Hayek S; Naït-Saïdi R; Barbezier N; Coux O; Simonelig M
PLoS Genet; 2022 Jan; 18(1):e1010015. PubMed ID: 35025870
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy.
Abu-Baker A; Messaed C; Laganiere J; Gaspar C; Brais B; Rouleau GA
Hum Mol Genet; 2003 Oct; 12(20):2609-23. PubMed ID: 12944420
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Ectopic expression of a polyalanine expansion mutant of poly(A)-binding protein N1 in muscle cells in culture inhibits myogenesis.
Wang Q; Bag J
Biochem Biophys Res Commun; 2006 Feb; 340(3):815-22. PubMed ID: 16378590
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.
van der Sluijs BM; van Engelen BG; Hoefsloot LH
Hum Mutat; 2003 May; 21(5):553. PubMed ID: 12673802
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. 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.
Robinson DO; Hammans SR; Read SP; Sillibourne J
Hum Genet; 2005 Mar; 116(4):267-71. PubMed ID: 15645184
[TBL] [Abstract][Full Text] [Related]
37. Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death.
Fan X; Dion P; Laganiere J; Brais B; Rouleau GA
Hum Mol Genet; 2001 Oct; 10(21):2341-51. PubMed ID: 11689481
[TBL] [Abstract][Full Text] [Related]
38. Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation.
Robinson DO; Wills AJ; Hammans SR; Read SP; Sillibourne J
J Med Genet; 2006 May; 43(5):e23. PubMed ID: 16648376
[TBL] [Abstract][Full Text] [Related]
39. A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion.
Takahashi Y; Morimoto N; Nada T; Morimoto M; Eura N; Minami N; Nishino I
J Neuromuscul Dis; 2023; 10(3):459-463. PubMed ID: 36847015
[TBL] [Abstract][Full Text] [Related]
40. Over-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy.
Davies JE; Rubinsztein DC
Hum Mol Genet; 2011 Mar; 20(6):1154-63. PubMed ID: 21199860
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
