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MeSH Review

Muscular Dystrophy, Oculopharyngeal

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Disease relevance of Muscular Dystrophy, Oculopharyngeal


High impact information on Muscular Dystrophy, Oculopharyngeal


Chemical compound and disease context of Muscular Dystrophy, Oculopharyngeal


Biological context of Muscular Dystrophy, Oculopharyngeal


Anatomical context of Muscular Dystrophy, Oculopharyngeal


  1. 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, G.A. Traffic (2005) [Pubmed]
  2. Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. Minami, N., Ikezoe, K., Kuroda, H., Nakabayashi, H., Satoyoshi, E., Nonaka, I. Neuromuscul. Disord. (2001) [Pubmed]
  3. Neuro-ophthalmic genetics. Kerrison, J.B., Maumenee, I.H. Current opinion in ophthalmology. (1997) [Pubmed]
  4. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Brais, B., Bouchard, J.P., Xie, Y.G., Rochefort, D.L., Chrétien, N., Tomé, F.M., Lafrenière, R.G., Rommens, J.M., Uyama, E., Nohira, O., Blumen, S., Korczyn, A.D., Heutink, P., Mathieu, J., Duranceau, A., Codère, F., Fardeau, M., Rouleau, G.A., Korcyn, A.D. Nat. Genet. (1998) [Pubmed]
  5. Creatine phosphokinase MB band in oculopharyngeal muscular dystrophy. Diskin, C.J. N. Engl. J. Med. (1979) [Pubmed]
  6. Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. Davies, J.E., Sarkar, S., Rubinsztein, D.C. Hum. Mol. Genet. (2006) [Pubmed]
  7. Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells. Dorsman, J.C., Pepers, B., Langenberg, D., Kerkdijk, H., Ijszenga, M., den Dunnen, J.T., Roos, R.A., van Ommen, G.J. Hum. Mol. Genet. (2002) [Pubmed]
  8. CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation. Gaspar, C., Jannatipour, M., Dion, P., Laganière, J., Sequeiros, J., Brais, B., Rouleau, G.A. Hum. Mol. Genet. (2000) [Pubmed]
  9. Cisatracurium pharmacodynamics in patients with oculopharyngeal muscular dystrophy. Caron, M.J., Girard, F., Girard, D.C., Boudreault, D., Brais, B., Nassif, E., Chouinard, P., Ruel, M., Duranceau, A. Anesth. Analg. (2005) [Pubmed]
  10. An aggregate-prone conformational epitope in trinucleotide repeat diseases. Sugaya, K., Matsubara, S., Miyamoto, K., Kawata, A., Hayashi, H. Neuroreport (2003) [Pubmed]
  11. Safe use of mivacurium in oculopharyngeal muscular dystrophy. Chun, R., Ananthanarayan, C. Canadian journal of anaesthesia = Journal canadien d'anesthésie. (1998) [Pubmed]
  12. Forearm P-31 nuclear magnetic resonance spectroscopy studies in oculopharyngeal muscular dystrophy. Zochodne, D.W., Koopman, W.J., Witt, N.J., Thompson, T., Driedger, A.A., Gravelle, D., Bolton, C.F. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. (1992) [Pubmed]
  13. Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy. Bao, Y.P., Sarkar, S., Uyama, E., Rubinsztein, D.C. J. Med. Genet. (2004) [Pubmed]
  14. Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2. Becher, M.W., Kotzuk, J.A., Davis, L.E., Bear, D.G. Ann. Neurol. (2000) [Pubmed]
  15. Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy. Nakamoto, M., Nakano, S., Kawashima, S., Ihara, M., Nishimura, Y., Shinde, A., Kakizuka, A. Arch. Neurol. (2002) [Pubmed]
  16. 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) [Pubmed]
  17. 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, D.D., Bag, J. Hum. Mol. Genet. (2005) [Pubmed]
  18. Mitochondrial DNA deletions in oculopharyngeal muscular dystrophy. Lezza, A.M., Cormio, A., Gerardi, P., Silvestri, G., Servidei, S., Serlenga, L., Cantatore, P., Gadaleta, M.N. FEBS Lett. (1997) [Pubmed]
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