BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

197 related articles for article (PubMed ID: 30831428)

  • 21. Pharyngeal pathology in a mouse model of oculopharyngeal muscular dystrophy is associated with impaired basal autophagy in myoblasts.
    Zhang Y; Zeuthen C; Zhu C; Wu F; Mezzell AT; Whitlow TJ; Choo HJ; Vest KE
    Front Cell Dev Biol; 2022; 10():986930. PubMed ID: 36313551
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. Characterization of
    Cruz-Aguilar M; Guerrero-de Ferran C; Tovilla-Canales JL; Nava-Castañeda A; Zenteno JC
    J Investig Med; 2017 Mar; 65(3):705-708. PubMed ID: 27980005
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Oculopharyngeal muscular dystrophy as a paradigm for muscle aging.
    Raz Y; Raz V
    Front Aging Neurosci; 2014; 6():317. PubMed ID: 25426070
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. 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]  

  • 31. 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]  

  • 32. 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]  

  • 33. Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice.
    Davies JE; Wang L; Garcia-Oroz L; Cook LJ; Vacher C; O'Donovan DG; Rubinsztein DC
    Nat Med; 2005 Jun; 11(6):672-7. PubMed ID: 15864313
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects.
    Rivera D; Mejia-Lopez H; Pompa-Mera EN; Villanueva-Mendoza C; Nava-Castañeda A; Garnica-Hayashi L; Cuevas-Covarrubias S; Zenteno JC
    Br J Ophthalmol; 2008 Jul; 92(7):998-1002. PubMed ID: 18577654
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression.
    Klein AF; Ebihara M; Alexander C; Dicaire MJ; Sasseville AM; Langelier Y; Rouleau GA; Brais B
    Exp Cell Res; 2008 May; 314(8):1652-66. PubMed ID: 18367172
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. In vivo aggregation properties of the nuclear poly(A)-binding protein PABPN1.
    Tavanez JP; Calado P; Braga J; Lafarga M; Carmo-Fonseca M
    RNA; 2005 May; 11(5):752-62. PubMed ID: 15811916
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1.
    Catoire H; Pasco MY; Abu-Baker A; Holbert S; Tourette C; Brais B; Rouleau GA; Parker JA; Néri C
    Hum Mol Genet; 2008 Jul; 17(14):2108-17. PubMed ID: 18397876
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.