메뉴 건너뛰기




Volumn 1772, Issue 2, 2007, Pages 173-185

Oculopharyngeal muscular dystrophy: Recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies

Author keywords

Intranuclear inclusions; Oculopharyngeal muscular dystrophy; Poly(A) binding protein nuclear 1; Polyalanine

Indexed keywords

8 QUINOLINOL; ALANINE; DOXYCYCLINE; IBUPROFEN; INDOMETACIN; MESSENGER RNA; MESSENGER RNA PRECURSOR; NUCLEAR PROTEIN; POLYADENYLIC ACID BINDING PROTEIN; POLYAMINOACID; POLYGLUTAMINE; PROTEIN ANTIBODY; PROTEIN PABPN1; SINGLE DOMAIN INTRACELLULAR ANTIBODY; TREHALOSE; UNCLASSIFIED DRUG; ZINC SULFATE;

EID: 33846440511     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2006.10.003     Document Type: Review
Times cited : (93)

References (129)
  • 1
    • 0016779784 scopus 로고
    • Autosomal recessive oculopharyngeal muscular dystrophy
    • Fried K., Arlozorov A., and Spira R. Autosomal recessive oculopharyngeal muscular dystrophy. J. Med. Genet. 12 (1975) 416-418
    • (1975) J. Med. Genet. , vol.12 , pp. 416-418
    • Fried, K.1    Arlozorov, A.2    Spira, R.3
  • 4
    • 84939092946 scopus 로고
    • Progressive vagus-glossopharyngeal paralysis with ptosis: a contribution to the group family diseases
    • Taylor E.W. Progressive vagus-glossopharyngeal paralysis with ptosis: a contribution to the group family diseases. J. Nerv. Ment. Dis. 42 (1915) 129-139
    • (1915) J. Nerv. Ment. Dis. , vol.42 , pp. 129-139
    • Taylor, E.W.1
  • 5
    • 0000232611 scopus 로고
    • Oculopharyngeal muscular dystrophy: familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids
    • Victor M., Hayes R., and Adams R.D. Oculopharyngeal muscular dystrophy: familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. N. Engl. J. Med. 267 (1962) 1267-1272
    • (1962) N. Engl. J. Med. , vol.267 , pp. 1267-1272
    • Victor, M.1    Hayes, R.2    Adams, R.D.3
  • 6
    • 0020606723 scopus 로고
    • Familial oculopharyngeal muscular dystrophy with distal spread
    • Vita G., Dattola R., Santoro M., and Messina C. Familial oculopharyngeal muscular dystrophy with distal spread. J. Neurol. (1983) 57-64
    • (1983) J. Neurol. , pp. 57-64
    • Vita, G.1    Dattola, R.2    Santoro, M.3    Messina, C.4
  • 7
    • 0026865870 scopus 로고
    • Oculopharyngeal muscular dystrophy: a case report and a review of literature
    • Lim C.T., Chew C.T., and Chew S.H. Oculopharyngeal muscular dystrophy: a case report and a review of literature. Ann. Acad. Med. Singap. 21 (1992) 399-403
    • (1992) Ann. Acad. Med. Singap. , vol.21 , pp. 399-403
    • Lim, C.T.1    Chew, C.T.2    Chew, S.H.3
  • 9
    • 0028894536 scopus 로고
    • Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders
    • Jongen P.J., Ter Laak H.L., and Stadhouders A.M. Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders. Neuromuscul. Disord. 5 (1995) 31-38
    • (1995) Neuromuscul. Disord. , vol.5 , pp. 31-38
    • Jongen, P.J.1    Ter Laak, H.L.2    Stadhouders, A.M.3
  • 12
    • 0030840345 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy in France
    • Fardeau M., and Tome F.M. Oculopharyngeal muscular dystrophy in France. Neuromuscul. Disord. 7 Suppl. 1 (1997) S30-S33
    • (1997) Neuromuscul. Disord. , vol.7 , Issue.SUPPL. 1
    • Fardeau, M.1    Tome, F.M.2
  • 16
    • 0030731710 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency
    • Porschke H., Kress W., Reichmann H., Goebel H.H., and Grimm T. Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency. Neuromuscul. Disord. 7 Suppl. 1 (1997) S57-S62
    • (1997) Neuromuscul. Disord. , vol.7 , Issue.SUPPL. 1
    • Porschke, H.1    Kress, W.2    Reichmann, H.3    Goebel, H.H.4    Grimm, T.5
  • 18
    • 33846431382 scopus 로고
    • Dytrophie musculaire oculopharyngee. Recensement des familles francaises et etude genealogique
    • Brunet G., Tome F.M., Samson F., et al. Dytrophie musculaire oculopharyngee. Recensement des familles francaises et etude genealogique. Rev. Neurol. 4 (1990) 429-434
    • (1990) Rev. Neurol. , vol.4 , pp. 429-434
    • Brunet, G.1    Tome, F.M.2    Samson, F.3
  • 20
    • 0002827582 scopus 로고
    • Engel A.G., and Franzini-Armstrong C. (Eds), McGraw-Hill, New York
    • Tomé F., and Fardeau M. In: Engel A.G., and Franzini-Armstrong C. (Eds). Oculopharyngeal muscular dystrophy. Myology vol. 2 (1994), McGraw-Hill, New York 1233-1245
    • (1994) Myology , vol.2 , pp. 1233-1245
    • Tomé, F.1    Fardeau, M.2
  • 21
    • 0037301515 scopus 로고    scopus 로고
    • Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy
    • Fan X., and Rouleau G.A. Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy. Can. J. Neurol. Sci. 30 (2003) 8-14
    • (2003) Can. J. Neurol. Sci. , vol.30 , pp. 8-14
    • Fan, X.1    Rouleau, G.A.2
  • 22
    • 0018865908 scopus 로고
    • Nuclear inclusions in oculopharyngeal dystrophy
    • Tome F.M., and Fardeau M. Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol. (Berl.) 49 (1980) 85-87
    • (1980) Acta Neuropathol. (Berl.) , vol.49 , pp. 85-87
    • Tome, F.M.1    Fardeau, M.2
  • 24
    • 0344099622 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease
    • Brais B. Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease. Cytogenet. Genome Res. 100 (2003) 252-260
    • (2003) Cytogenet. Genome Res. , vol.100 , pp. 252-260
    • Brais, B.1
  • 26
    • 0020057967 scopus 로고
    • Oculopharyngeal muscular dystrophy. An autopsied case from the French-Canadian Kindred
    • Little B.W., and Perl D.P. Oculopharyngeal muscular dystrophy. An autopsied case from the French-Canadian Kindred. J. Neurol. Sci. 53 (1982) 145-158
    • (1982) J. Neurol. Sci. , vol.53 , pp. 145-158
    • Little, B.W.1    Perl, D.P.2
  • 28
    • 0027549485 scopus 로고
    • Oculopharyngeal muscular dystrophy
    • Codere F. Oculopharyngeal muscular dystrophy. Can. J. Ophthalmol. 28 (1993) 1-2
    • (1993) Can. J. Ophthalmol. , vol.28 , pp. 1-2
    • Codere, F.1
  • 29
    • 0030782405 scopus 로고    scopus 로고
    • Cricopharyngeal myotomy in the management of neurogenic and muscular dysphagia
    • Duranceau A. Cricopharyngeal myotomy in the management of neurogenic and muscular dysphagia. Neuromuscul. Disord. 7 (1997) S85-S89
    • (1997) Neuromuscul. Disord. , vol.7
    • Duranceau, A.1
  • 30
    • 0030728968 scopus 로고    scopus 로고
    • A pilot study on upper esophageal sphincter dilatation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy
    • Mathieu J., Lapointe G., Brassard A., Tremblay C., Brais B., Rouleau G.A., and Bouchard J.P. A pilot study on upper esophageal sphincter dilatation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy. Neuromuscul. Disord. 7 (1997) S100-S104
    • (1997) Neuromuscul. Disord. , vol.7
    • Mathieu, J.1    Lapointe, G.2    Brassard, A.3    Tremblay, C.4    Brais, B.5    Rouleau, G.A.6    Bouchard, J.P.7
  • 32
    • 0030731710 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency
    • Porschke H., Kress W., Reichmann H., Goebel H.H., and Grimm T. Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency. Neuromuscul. Disord. 7 Suppl 1 (1997) S57-S62
    • (1997) Neuromuscul. Disord. , vol.7 , Issue.SUPPL. 1
    • Porschke, H.1    Kress, W.2    Reichmann, H.3    Goebel, H.H.4    Grimm, T.5
  • 34
    • 0033009388 scopus 로고    scopus 로고
    • Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease
    • Blumen S.C., Brais B., Korczyn A.D., Medinsky S., Chapman J., Asherov A., et al. Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Ann. Neurol. 46 (1999) 115-118
    • (1999) Ann. Neurol. , vol.46 , pp. 115-118
    • Blumen, S.C.1    Brais, B.2    Korczyn, A.D.3    Medinsky, S.4    Chapman, J.5    Asherov, A.6
  • 36
    • 0035068493 scopus 로고    scopus 로고
    • Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy
    • Schober R., Kress W., Grahmann F., Kellermann S., Baum P., Gunzel S., and Wagner A. Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy. Neuropathology 21 (2001) 45-52
    • (2001) Neuropathology , vol.21 , pp. 45-52
    • Schober, R.1    Kress, W.2    Grahmann, F.3    Kellermann, S.4    Baum, P.5    Gunzel, S.6    Wagner, A.7
  • 38
    • 0019448016 scopus 로고
    • An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with dustal spread and neurogenic involvement
    • Schmitt P., and Krause K.H. An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with dustal spread and neurogenic involvement. Muscle Nerve 4 (1981) 296-305
    • (1981) Muscle Nerve , vol.4 , pp. 296-305
    • Schmitt, P.1    Krause, K.H.2
  • 39
    • 0027301012 scopus 로고
    • Neuropathic findings in oculopharyngeal muscular dystrophy. A report of seven cases and a review of the literature
    • Hardiman O., Halperin J.J., Farell M.A., Shapiro B.E., Wray S.H., and Brown R.H. Neuropathic findings in oculopharyngeal muscular dystrophy. A report of seven cases and a review of the literature. Arch. Neurol. 50 (1993) 481-488
    • (1993) Arch. Neurol. , vol.50 , pp. 481-488
    • Hardiman, O.1    Halperin, J.J.2    Farell, M.A.3    Shapiro, B.E.4    Wray, S.H.5    Brown, R.H.6
  • 41
    • 0035158048 scopus 로고    scopus 로고
    • GCG repeats and phenotype in oculopharyngeal muscular dystrophy
    • Müller T., Schröder R., and Zierz S. GCG repeats and phenotype in oculopharyngeal muscular dystrophy. Muscle Nerve 24 (2001) 120-122
    • (2001) Muscle Nerve , vol.24 , pp. 120-122
    • Müller, T.1    Schröder, R.2    Zierz, S.3
  • 42
    • 0035068493 scopus 로고    scopus 로고
    • Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy
    • Schober R., Kress W., Grahmann F., Kellermann S., Baum P., Günzel S., and Wagner A. Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy. Neuropathology 21 (2001) 45-52
    • (2001) Neuropathology , vol.21 , pp. 45-52
    • Schober, R.1    Kress, W.2    Grahmann, F.3    Kellermann, S.4    Baum, P.5    Günzel, S.6    Wagner, A.7
  • 43
    • 0036135243 scopus 로고    scopus 로고
    • Neurogenic involvement in a case of oculopharyngeal muscular dystrophy
    • Boukriche Y., Maisonobe T., and Masson C. Neurogenic involvement in a case of oculopharyngeal muscular dystrophy. Muscle Nerve 25 (2002) 98-101
    • (2002) Muscle Nerve , vol.25 , pp. 98-101
    • Boukriche, Y.1    Maisonobe, T.2    Masson, C.3
  • 44
    • 0026163660 scopus 로고
    • Oculopharyngeal muscular dystrophy. Description of a case with involvement of the central nervous system
    • Linoli G., Tomelleri G., and Ghezzi M. Oculopharyngeal muscular dystrophy. Description of a case with involvement of the central nervous system. Pathologica 83 (1991) 325-334
    • (1991) Pathologica , vol.83 , pp. 325-334
    • Linoli, G.1    Tomelleri, G.2    Ghezzi, M.3
  • 45
    • 0036135243 scopus 로고    scopus 로고
    • Neurogenic involvement in a case of oculopharyngeal muscular dystrophy
    • Boukriche Y., Maisonobe T., and Masson C. Neurogenic involvement in a case of oculopharyngeal muscular dystrophy. Muscle Nerve 25 (2002) 98-101
    • (2002) Muscle Nerve , vol.25 , pp. 98-101
    • Boukriche, Y.1    Maisonobe, T.2    Masson, C.3
  • 46
    • 0347362731 scopus 로고    scopus 로고
    • Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion
    • Nakashima D., Nakajima H., Ishida S., Sugino M., Kimura F., and Hanafusa T. Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion. Rinsho Shinkeigaku 43 (2003) 560-563
    • (2003) Rinsho Shinkeigaku , vol.43 , pp. 560-563
    • Nakashima, D.1    Nakajima, H.2    Ishida, S.3    Sugino, M.4    Kimura, F.5    Hanafusa, T.6
  • 48
    • 0030813827 scopus 로고    scopus 로고
    • Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy
    • Tomé F.M.S., Chateau D., Helbling-Leclerc A., and Fardeau M. Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. Neuromuscul. Disord. 7 Suppl 1 (1997) S63-S69
    • (1997) Neuromuscul. Disord. , vol.7 , Issue.SUPPL. 1
    • Tomé, F.M.S.1    Chateau, D.2    Helbling-Leclerc, A.3    Fardeau, M.4
  • 49
    • 0028015909 scopus 로고
    • Immunodetection of poly(A) binding protein II in the cell nucleus
    • Krause S., Fakan S., Weis K., and Wahle E. Immunodetection of poly(A) binding protein II in the cell nucleus. Exp. Cell Res. 214 (1994) 75-82
    • (1994) Exp. Cell Res. , vol.214 , pp. 75-82
    • Krause, S.1    Fakan, S.2    Weis, K.3    Wahle, E.4
  • 50
    • 0027400410 scopus 로고
    • Mammalian poly(A)-binding protein II. Physical properties and binding to polynucleotides
    • Wahle E., Lustig A., Jeno P., and Maurer P. Mammalian poly(A)-binding protein II. Physical properties and binding to polynucleotides. J. Biol. Chem. 268 (1993) 2937-2945
    • (1993) J. Biol. Chem. , vol.268 , pp. 2937-2945
    • Wahle, E.1    Lustig, A.2    Jeno, P.3    Maurer, P.4
  • 52
    • 0041312652 scopus 로고    scopus 로고
    • Stimulation of poly(A) polymerase through a direct interaction with the nuclear poly(A) binding protein allosterically regulated by RNA
    • Kerwitz Y., Kühn U., Lilie H., Knoth A., Scheuermann T., Friedrich H., Schwarz E., and Wahle E. Stimulation of poly(A) polymerase through a direct interaction with the nuclear poly(A) binding protein allosterically regulated by RNA. EMBO J. 22 (2003) 3705-3714
    • (2003) EMBO J. , vol.22 , pp. 3705-3714
    • Kerwitz, Y.1    Kühn, U.2    Lilie, H.3    Knoth, A.4    Scheuermann, T.5    Friedrich, H.6    Schwarz, E.7    Wahle, E.8
  • 53
    • 0033951076 scopus 로고    scopus 로고
    • Deciphering the cellular pathway for transport of poly(A)-binding protein II
    • Calado U., Kutay U., Kühn E., Wahle E., and Carmo-Fonseca M. Deciphering the cellular pathway for transport of poly(A)-binding protein II. RNA 6 (2000) 245-256
    • (2000) RNA , vol.6 , pp. 245-256
    • Calado, U.1    Kutay, U.2    Kühn, E.3    Wahle, E.4    Carmo-Fonseca, M.5
  • 54
    • 0035504113 scopus 로고    scopus 로고
    • Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death
    • Fan X., Dion P., Laganiere J., Brais B., and Rouleau G.A. Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. Hum. Mol. Genet. 10 (2001) 2341-2351
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2341-2351
    • Fan, X.1    Dion, P.2    Laganiere, J.3    Brais, B.4    Rouleau, G.A.5
  • 55
    • 0025817865 scopus 로고
    • A novel poly(A)-binding protein acts as a specificity factor in the second phase of messenger RNA polyadenylation
    • Wahle E. A novel poly(A)-binding protein acts as a specificity factor in the second phase of messenger RNA polyadenylation. Cell 66 (1991) 759-768
    • (1991) Cell , vol.66 , pp. 759-768
    • Wahle, E.1
  • 56
    • 0028895435 scopus 로고
    • Poly(A) tail length control is caused by termination of processive synthesis
    • Wahle E. Poly(A) tail length control is caused by termination of processive synthesis. J. Biol. Chem. 270 (1995) 2800-2808
    • (1995) J. Biol. Chem. , vol.270 , pp. 2800-2808
    • Wahle, E.1
  • 57
    • 0028340737 scopus 로고
    • The mRNA poly(A)-binding protein: localization, abundance, and RNA-binding specificity
    • Gorlach M., Burd C.G., and Dreyfuss G. The mRNA poly(A)-binding protein: localization, abundance, and RNA-binding specificity. Exp. Cell Res. 211 (1994) 400-407
    • (1994) Exp. Cell Res. , vol.211 , pp. 400-407
    • Gorlach, M.1    Burd, C.G.2    Dreyfuss, G.3
  • 58
    • 0032557655 scopus 로고    scopus 로고
    • The human poly(A)-binding protein 1 shuttles between the nucleus and the cytoplasm
    • Afonina E., Stauber R., and Pavlakis G.N. The human poly(A)-binding protein 1 shuttles between the nucleus and the cytoplasm. J. Biol. Chem. 273 (1998) 13015-13021
    • (1998) J. Biol. Chem. , vol.273 , pp. 13015-13021
    • Afonina, E.1    Stauber, R.2    Pavlakis, G.N.3
  • 59
    • 0034703413 scopus 로고    scopus 로고
    • Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly (A) binding protein 2 aggregates which sequester poly(A) RNA
    • Calado A., Tome F.M.S., Brais B., Rouleau GA., Kuhn U., Wahle E., and Carmo-Fonseca M. Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly (A) binding protein 2 aggregates which sequester poly(A) RNA. Hum. Mol. Genet. 9 (2000) 2321-2328
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2321-2328
    • Calado, A.1    Tome, F.M.S.2    Brais, B.3    Rouleau, GA.4    Kuhn, U.5    Wahle, E.6    Carmo-Fonseca, M.7
  • 60
    • 0030784958 scopus 로고    scopus 로고
    • Mechanism and regulation of mRNA polyadenylation
    • Colgan D.F., and Manley J.L. Mechanism and regulation of mRNA polyadenylation. Genes Dev. 11 (1997) 2755-2766
    • (1997) Genes Dev. , vol.11 , pp. 2755-2766
    • Colgan, D.F.1    Manley, J.L.2
  • 61
    • 0033151767 scopus 로고    scopus 로고
    • mRNA polyadenylation and its coupling to other RNA processing reactions and to transcription
    • Minvielle-Sebastia L., and Keller W. mRNA polyadenylation and its coupling to other RNA processing reactions and to transcription. Curr. Opin. Cell Biol. 11 (1999) 352-357
    • (1999) Curr. Opin. Cell Biol. , vol.11 , pp. 352-357
    • Minvielle-Sebastia, L.1    Keller, W.2
  • 62
    • 0033215058 scopus 로고    scopus 로고
    • Last but not least: regulated poly(A) tail formation
    • Barabino S.M.L., and Keller W. Last but not least: regulated poly(A) tail formation. Cell 99 (1999) 9-11
    • (1999) Cell , vol.99 , pp. 9-11
    • Barabino, S.M.L.1    Keller, W.2
  • 63
    • 0027439688 scopus 로고
    • Assembly of a processive messenger RNA polyadenylation complex
    • Bienroth S., Keller W., and Wahle E. Assembly of a processive messenger RNA polyadenylation complex. EMBO J. 12 (1993) 585-594
    • (1993) EMBO J. , vol.12 , pp. 585-594
    • Bienroth, S.1    Keller, W.2    Wahle, E.3
  • 64
    • 0034737319 scopus 로고    scopus 로고
    • The nuclear poly(A) binding protein, PABP2, forms an oligomeric particle covering the length of the poly(A) tail
    • Keller R.W., Kuhn U., Aragon M., Bornikova L., Wahle E., and Bear D.G. The nuclear poly(A) binding protein, PABP2, forms an oligomeric particle covering the length of the poly(A) tail. J. Mol. Biol. 297 (2000) 569-583
    • (2000) J. Mol. Biol. , vol.297 , pp. 569-583
    • Keller, R.W.1    Kuhn, U.2    Aragon, M.3    Bornikova, L.4    Wahle, E.5    Bear, D.G.6
  • 66
    • 0022552155 scopus 로고
    • Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities
    • Pratt F., and Meyers P.K. Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities. Laryngoscope 96 (1986) 368-373
    • (1986) Laryngoscope , vol.96 , pp. 368-373
    • Pratt, F.1    Meyers, P.K.2
  • 67
    • 0024370464 scopus 로고
    • Nuclear inclusions in innervated cultured muscle fibers from patients with oculopharyngeal muscular dystrophy
    • Tome F.M., Askanas V., Engel W.K., Alvarez R.B., and Lee C.S. Nuclear inclusions in innervated cultured muscle fibers from patients with oculopharyngeal muscular dystrophy. Neurology 39 (1989) 929-932
    • (1989) Neurology , vol.39 , pp. 929-932
    • Tome, F.M.1    Askanas, V.2    Engel, W.K.3    Alvarez, R.B.4    Lee, C.S.5
  • 68
    • 0024464204 scopus 로고
    • Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec
    • Bouchard J.P., Gagne F., Tome F.M., and Brunet D. Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec. Can. J. Neurol. Sci. 16 (1989) 446-450
    • (1989) Can. J. Neurol. Sci. , vol.16 , pp. 446-450
    • Bouchard, J.P.1    Gagne, F.2    Tome, F.M.3    Brunet, D.4
  • 69
    • 0025132036 scopus 로고
    • Presence of inclusion body myositis-like filaments in oculopharyngeal muscular dystrophy. Ultrastructural study of 10 cases
    • Coquet M., Vital C., and Julien J. Presence of inclusion body myositis-like filaments in oculopharyngeal muscular dystrophy. Ultrastructural study of 10 cases. Neuropathol. Appl. Neurobiol. 5 (1990) 393-400
    • (1990) Neuropathol. Appl. Neurobiol. , vol.5 , pp. 393-400
    • Coquet, M.1    Vital, C.2    Julien, J.3
  • 72
    • 0037023781 scopus 로고    scopus 로고
    • Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy
    • Bao Y.P., Cook L.J., O'Donovan D., Uyama E., and Rubinsztein D.C. Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy. J. Biol. Chem. 277 (2002) 12263-12269
    • (2002) J. Biol. Chem. , vol.277 , pp. 12263-12269
    • Bao, Y.P.1    Cook, L.J.2    O'Donovan, D.3    Uyama, E.4    Rubinsztein, D.C.5
  • 73
    • 0142185364 scopus 로고    scopus 로고
    • Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy
    • Abu-Baker A., Messaed C., Laganiere J., Gaspar C., Brais B., and Rouleau G.A. Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. Hum. Mol. Genet. 12 (2003) 2609-2623
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2609-2623
    • Abu-Baker, A.1    Messaed, C.2    Laganiere, J.3    Gaspar, C.4    Brais, B.5    Rouleau, G.A.6
  • 74
    • 0033768247 scopus 로고    scopus 로고
    • PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy
    • Shanmugam V., Dion P., Rochefort D., Laganiere J., Brais B., and Rouleau G.A. PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy. Ann. Neurol. 48 (2000) 798-802
    • (2000) Ann. Neurol. , vol.48 , pp. 798-802
    • Shanmugam, V.1    Dion, P.2    Rochefort, D.3    Laganiere, J.4    Brais, B.5    Rouleau, G.A.6
  • 75
    • 23844440597 scopus 로고    scopus 로고
    • 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., and Rouleau G.A. Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy. Traffic 6 (2005) 1-14
    • (2005) Traffic , vol.6 , pp. 1-14
    • Abu-Baker, A.1    Laganiere, S.2    Fan, X.3    Laganiere, J.4    Brais, B.5    Rouleau, G.A.6
  • 77
    • 7244236320 scopus 로고    scopus 로고
    • Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
    • Arrasate M., Mitra S., Schweitzer E.S., Segal M.R., and Finkbeiner S. Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature 43 (2004) 805-810
    • (2004) Nature , vol.43 , pp. 805-810
    • Arrasate, M.1    Mitra, S.2    Schweitzer, E.S.3    Segal, M.R.4    Finkbeiner, S.5
  • 78
    • 17844369724 scopus 로고    scopus 로고
    • In vivo aggregation properties of the nuclear poly(A)-binding protein PABPN1
    • Tavanez J.P., Calado P., Braga J., Lafarga M., and Carmo-Fonseca M. In vivo aggregation properties of the nuclear poly(A)-binding protein PABPN1. RNA 5 (2005) 752-762
    • (2005) RNA , vol.5 , pp. 752-762
    • Tavanez, J.P.1    Calado, P.2    Braga, J.3    Lafarga, M.4    Carmo-Fonseca, M.5
  • 79
    • 1942485876 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus
    • Berciano T.M., Nuria T., Jose V., Navascues L.O.J., Gomes A., and Lafarga M. Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus. Hum. Mol. Genet. 13 (2004) 829-838
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 829-838
    • Berciano, T.M.1    Nuria, T.2    Jose, V.3    Navascues, L.O.J.4    Gomes, A.5    Lafarga, M.6
  • 82
    • 0034094873 scopus 로고    scopus 로고
    • Glutamine repeats and neurodegeneration
    • Zoghbi H.Y., and Orr H.T. Glutamine repeats and neurodegeneration. Annu. Rev. Neurosci. 23 (2000) 217-247
    • (2000) Annu. Rev. Neurosci. , vol.23 , pp. 217-247
    • Zoghbi, H.Y.1    Orr, H.T.2
  • 85
    • 0029871929 scopus 로고    scopus 로고
    • Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
    • Muragaki Y., Mundlos S., Upton J., and Olsen B.R. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272 (1996) 548-551
    • (1996) Science , vol.272 , pp. 548-551
    • Muragaki, Y.1    Mundlos, S.2    Upton, J.3    Olsen, B.R.4
  • 89
    • 0031050961 scopus 로고    scopus 로고
    • Mutation of HOXA13 in hand-foot-genital syndrome
    • Mortlock D.P., and Innis J.W. Mutation of HOXA13 in hand-foot-genital syndrome. Nat. Genet. 15 (1997) 179-180
    • (1997) Nat. Genet. , vol.15 , pp. 179-180
    • Mortlock, D.P.1    Innis, J.W.2
  • 94
    • 0031015410 scopus 로고    scopus 로고
    • Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13
    • Warren S.T. Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. Science 275 (1997) 408-409
    • (1997) Science , vol.275 , pp. 408-409
    • Warren, S.T.1
  • 96
    • 10844222804 scopus 로고    scopus 로고
    • A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation
    • Caburet S., Demarez A., Moumme L., Fellows M., De Baere E., and Veitia R.A. A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation. J. Med. Genet. 41 (2004) 931-946
    • (2004) J. Med. Genet. , vol.41 , pp. 931-946
    • Caburet, S.1    Demarez, A.2    Moumme, L.3    Fellows, M.4    De Baere, E.5    Veitia, R.A.6
  • 97
    • 8444221584 scopus 로고    scopus 로고
    • A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death
    • Nasrallah I.M., Minarcik J.C., and Golden J.A. A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. J. Cell Biol. 167 (2004) 411-416
    • (2004) J. Cell Biol. , vol.167 , pp. 411-416
    • Nasrallah, I.M.1    Minarcik, J.C.2    Golden, J.A.3
  • 99
    • 0037108033 scopus 로고    scopus 로고
    • Limb malformations and the human HOX genes
    • Goodman F.R. Limb malformations and the human HOX genes. Am. J. Med. Genet. 112 (2002) 256-265
    • (2002) Am. J. Med. Genet. , vol.112 , pp. 256-265
    • Goodman, F.R.1
  • 102
    • 19444364594 scopus 로고    scopus 로고
    • The other trinucleotide repeat: polyalanine expansion disorders
    • Albrecht A., and Mundlos S. The other trinucleotide repeat: polyalanine expansion disorders. Curr. Opin. Genet. Dev. 3 (2005) 285-293
    • (2005) Curr. Opin. Genet. Dev. , vol.3 , pp. 285-293
    • Albrecht, A.1    Mundlos, S.2
  • 103
    • 20944432778 scopus 로고    scopus 로고
    • Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice
    • Davies J.E., Wang L., Garcia-Oroz L., Cook L.J., Vacher C., O'donovan D.G., and Rubinsztein D.C. Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice. Nat. Med. 6 (2005) 672-677
    • (2005) Nat. Med. , vol.6 , pp. 672-677
    • Davies, J.E.1    Wang, L.2    Garcia-Oroz, L.3    Cook, L.J.4    Vacher, C.5    O'donovan, D.G.6    Rubinsztein, D.C.7
  • 105
    • 33646768641 scopus 로고    scopus 로고
    • A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1
    • Chartier A., Benoit B., and Simonelig M. A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1. EMBO J. 25 (2006) 2253-2262
    • (2006) EMBO J. , vol.25 , pp. 2253-2262
    • Chartier, A.1    Benoit, B.2    Simonelig, M.3
  • 108
    • 0030853453 scopus 로고    scopus 로고
    • Polyalanine-based peptides as models for self-associated beta-pleated-sheet complexes
    • Blondelle S.E., Forood B., Houghten R.A., and Perez-Paya E. Polyalanine-based peptides as models for self-associated beta-pleated-sheet complexes. Biochemistry 36 (1997) 8393-8400
    • (1997) Biochemistry , vol.36 , pp. 8393-8400
    • Blondelle, S.E.1    Forood, B.2    Houghten, R.A.3    Perez-Paya, E.4
  • 109
    • 0035970888 scopus 로고    scopus 로고
    • Extreme diversity, conservation, and convergence of spider silk fibroin sequences
    • Gatesy J., Hayashi C., Motriuk D., Woods J., and Lewis R. Extreme diversity, conservation, and convergence of spider silk fibroin sequences. Science 291 (2001) 2603-2605
    • (2001) Science , vol.291 , pp. 2603-2605
    • Gatesy, J.1    Hayashi, C.2    Motriuk, D.3    Woods, J.4    Lewis, R.5
  • 110
    • 0037168551 scopus 로고    scopus 로고
    • Associations between human disease genes and overlapping gene groups and multiple amino acid runs
    • Karlin S., Chen C., Gentles A.J., and Cleary M. Associations between human disease genes and overlapping gene groups and multiple amino acid runs. Proc. Natl Acad. Sci. 99 (2002) 17008-17013
    • (2002) Proc. Natl Acad. Sci. , vol.99 , pp. 17008-17013
    • Karlin, S.1    Chen, C.2    Gentles, A.J.3    Cleary, M.4
  • 111
    • 0037117499 scopus 로고    scopus 로고
    • Aggregation of proteins with expanded glutamine and alanine repeats of the glutamine-rich and asparagine-rich domains of Sup35 and of the amyloid beta-peptide of amyloid plaques
    • Perutz M.F., Pope B.J., Owen D., Wanker E.E., and Scherzinger E. Aggregation of proteins with expanded glutamine and alanine repeats of the glutamine-rich and asparagine-rich domains of Sup35 and of the amyloid beta-peptide of amyloid plaques. Proc. Natl. Acad. Sci. 99 (2002) 5596-5600
    • (2002) Proc. Natl. Acad. Sci. , vol.99 , pp. 5596-5600
    • Perutz, M.F.1    Pope, B.J.2    Owen, D.3    Wanker, E.E.4    Scherzinger, E.5
  • 112
    • 0344845146 scopus 로고    scopus 로고
    • Trinucleotide expansions leading to an extended poly-l-alanine segment in the poly (A) binding protein PABPN1 cause fibril formation
    • Scheuermann T., Schulz B., Blume A., Wahle E., Rudolph R., and Schwarz E. Trinucleotide expansions leading to an extended poly-l-alanine segment in the poly (A) binding protein PABPN1 cause fibril formation. Protein Sci. 12 (2003) 2685-2692
    • (2003) Protein Sci. , vol.12 , pp. 2685-2692
    • Scheuermann, T.1    Schulz, B.2    Blume, A.3    Wahle, E.4    Rudolph, R.5    Schwarz, E.6
  • 114
    • 33244456166 scopus 로고    scopus 로고
    • Spontaneous fibril formation by polyalanines; discontinuous molecular dynamics simulations
    • Nguyen H.D., and Hall C.K. Spontaneous fibril formation by polyalanines; discontinuous molecular dynamics simulations. J. Am. Chem. Soc. 128 (2006) 1890-1901
    • (2006) J. Am. Chem. Soc. , vol.128 , pp. 1890-1901
    • Nguyen, H.D.1    Hall, C.K.2
  • 115
    • 15744382287 scopus 로고    scopus 로고
    • Kinetics of fibril formation by polyalanine peptides
    • Nguyen H.D., and Hall C.K. Kinetics of fibril formation by polyalanine peptides. J. Biol. Chem. 280 (2005) 9074-9082
    • (2005) J. Biol. Chem. , vol.280 , pp. 9074-9082
    • Nguyen, H.D.1    Hall, C.K.2
  • 116
    • 1642451714 scopus 로고    scopus 로고
    • 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., and Rubinsztein D.C. Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy. J. Med. Genet. 41 (2004) 47-51
    • (2004) J. Med. Genet. , vol.41 , pp. 47-51
    • Bao, Y.P.1    Sarkar, S.2    Uyama, E.3    Rubinsztein, D.C.4
  • 117
    • 0037461730 scopus 로고    scopus 로고
    • Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders
    • Sanchez I., Mahlke C., and Yuan J. Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders. Nature 421 (2003) 373-379
    • (2003) Nature , vol.421 , pp. 373-379
    • Sanchez, I.1    Mahlke, C.2    Yuan, J.3
  • 118
    • 1642300389 scopus 로고    scopus 로고
    • Continuous remodeling of adult extraocular muscles as an explanation for selective craniofacial vulnerability in oculopharyngeal muscular dystrophy
    • Wirtschafter J.D., Ferrington D.A., and McLoon L.K. Continuous remodeling of adult extraocular muscles as an explanation for selective craniofacial vulnerability in oculopharyngeal muscular dystrophy. J. Neuroophthalmol. 1 (2004) 62-67
    • (2004) J. Neuroophthalmol. , vol.1 , pp. 62-67
    • Wirtschafter, J.D.1    Ferrington, D.A.2    McLoon, L.K.3
  • 119
    • 30144442961 scopus 로고    scopus 로고
    • Ectopic expression of a polyalanine expansion mutant of poly(A)-binding protein N1 in muscle cells in culture inhibits myogenesis
    • Wang Q., and Bag J. Ectopic expression of a polyalanine expansion mutant of poly(A)-binding protein N1 in muscle cells in culture inhibits myogenesis. Biochem. Biophys. Res. Commun. 340 (2006) 815-822
    • (2006) Biochem. Biophys. Res. Commun. , vol.340 , pp. 815-822
    • Wang, Q.1    Bag, J.2
  • 120
    • 0035873278 scopus 로고    scopus 로고
    • The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression
    • Kim Y.-J., Noguchi S., Hayashi Y.K., Tsukahara T., Shimizu T., and Arahata K. The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. Hum. Mol. Genet. 10 (2001) 1129-1139
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1129-1139
    • Kim, Y.-J.1    Noguchi, S.2    Hayashi, Y.K.3    Tsukahara, T.4    Shimizu, T.5    Arahata, K.6
  • 121
    • 0037621980 scopus 로고    scopus 로고
    • Nuclear poly(A)-binding protein PABPN1 is associated with RNA polymerase II during transcription and accompanies the released transcript to the nuclear pore
    • Bear D.G., Fomproix N., Soop T., Björkroth B., Masich S., and Daneholt B. Nuclear poly(A)-binding protein PABPN1 is associated with RNA polymerase II during transcription and accompanies the released transcript to the nuclear pore. Exp. Cell Res. 286 (2003) 332-344
    • (2003) Exp. Cell Res. , vol.286 , pp. 332-344
    • Bear, D.G.1    Fomproix, N.2    Soop, T.3    Björkroth, B.4    Masich, S.5    Daneholt, B.6
  • 122
    • 0036566266 scopus 로고    scopus 로고
    • Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy
    • Ravikumar B., Duden R., and Rubinsztein D.C. Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy. Hum. Mol. Genet. 11 (2002) 1107-1117
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1107-1117
    • Ravikumar, B.1    Duden, R.2    Rubinsztein, D.C.3
  • 124
    • 27544497472 scopus 로고    scopus 로고
    • Lithium rescues toxicity of aggregate-prone proteins in Drosophila by perturbing Wnt pathway
    • (Hum Mol Genet)
    • Berger Z., Ttofi E.K., Michel C.H., Pasco M.Y., Tenant S., Rubinsztein D.C., and O'Kane C.J. Lithium rescues toxicity of aggregate-prone proteins in Drosophila by perturbing Wnt pathway. Hum. Mol. Genet. 14 (2005) 3003-3011 (Hum Mol Genet)
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 3003-3011
    • Berger, Z.1    Ttofi, E.K.2    Michel, C.H.3    Pasco, M.Y.4    Tenant, S.5    Rubinsztein, D.C.6    O'Kane, C.J.7
  • 126
    • 29644437591 scopus 로고    scopus 로고
    • Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy
    • Davies J.E., Sarkar S., and Rubinsztein D.C. Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. Hum. Mol. Genet. 15 (2006) 23-31
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 23-31
    • Davies, J.E.1    Sarkar, S.2    Rubinsztein, D.C.3
  • 127
  • 128
    • 28744444484 scopus 로고    scopus 로고
    • 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., and Bag J. 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. Hum. Mol. Genet. 14 (2005) 3673-3684
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 3673-3684
    • Wang, Q.1    Mosser, D.D.2    Bag, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.