메뉴 건너뛰기




Volumn 111, Issue 6, 1998, Pages 781-792

Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype

Author keywords

Emerin; Emery Dreifuss muscular dystrophy; Phosphorylation; Targeting

Indexed keywords

EMERIN; GENE PRODUCT; MUTANT PROTEIN; UNCLASSIFIED DRUG;

EID: 0031969698     PISSN: 00219533     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (131)

References (39)
  • 1
    • 0027985787 scopus 로고
    • Idenitification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • Bione, S., Maestrini, F., Rivella, S., Mancini, M., Regis, S., Romeo, G. and Toniolo, D. (1994). Idenitification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genetics 8, 323-327.
    • (1994) Nature Genetics , vol.8 , pp. 323-327
    • Bione, S.1    Maestrini, F.2    Rivella, S.3    Mancini, M.4    Regis, S.5    Romeo, G.6    Toniolo, D.7
  • 3
    • 0018987976 scopus 로고
    • Intracellular protein topogenesis
    • Blobel, G. (1980). Intracellular protein topogenesis. Proc. Nat. Acad. Sci. USA 77, 1496-1500.
    • (1980) Proc. Nat. Acad. Sci. USA , vol.77 , pp. 1496-1500
    • Blobel, G.1
  • 4
    • 0017184389 scopus 로고
    • A rapid and sensitive method for the quantification of micrograms of protein utilizing the principle of protein-dye binding
    • Bradford, M. M. (1976). A rapid and sensitive method for the quantification of micrograms of protein utilizing the principle of protein-dye binding. Anal. Biochem. 72, 248-254.
    • (1976) Anal. Biochem. , vol.72 , pp. 248-254
    • Bradford, M.M.1
  • 5
    • 0019551730 scopus 로고
    • 'Western blotting': Electrophoretic transfer of proteins from SDS-PAGE gels to unmodified nitrocellulose and radiographic detection with antibodies and radioiodinated protein A
    • Burnette, W. N. (1981). 'Western blotting': electrophoretic transfer of proteins from SDS-PAGE gels to unmodified nitrocellulose and radiographic detection with antibodies and radioiodinated protein A. Anal. Biochem. 112, 195-303.
    • (1981) Anal. Biochem. , vol.112 , pp. 195-303
    • Burnette, W.N.1
  • 7
    • 0028940742 scopus 로고
    • Synaptotagmin V: A novel synaptotagmin isoform expressed in rat brain
    • Craxton, M. and Goedert, M. (1995). Synaptotagmin V: a novel synaptotagmin isoform expressed in rat brain. FEBS Lett. 361, 196-200.
    • (1995) FEBS Lett. , vol.361 , pp. 196-200
    • Craxton, M.1    Goedert, M.2
  • 8
    • 0025949412 scopus 로고
    • Nuclear targeting sequences - A consensus?
    • Dingwell, C. and Laskey, R. A. (1991). Nuclear targeting sequences - a consensus? Trends Biol. Chem. 16, 478-481.
    • (1991) Trends Biol. Chem. , vol.16 , pp. 478-481
    • Dingwell, C.1    Laskey, R.A.2
  • 9
    • 0026594413 scopus 로고
    • The post-synthetic sorting of endogenous membrane proteins examined by simultaneous purification of apical and basolateral plasma membrane fractions from Caco-2 cells
    • Ellis, J. A., Jackman, M. R. and Luzio, J. P. (1992). The post-synthetic sorting of endogenous membrane proteins examined by simultaneous purification of apical and basolateral plasma membrane fractions from Caco-2 cells. Biochem. J. 283, 553-560.
    • (1992) Biochem. J. , vol.283 , pp. 553-560
    • Ellis, J.A.1    Jackman, M.R.2    Luzio, J.P.3
  • 10
    • 0029098999 scopus 로고
    • Identification and characterization of a novel protein (p137), which transcytoses bidirectionally in Caco-2 cells
    • Ellis, J. A. and Luzlo, J. P. (1995). Identification and characterization of a novel protein (p137), which transcytoses bidirectionally in Caco-2 cells. J. Biol. Chem. 270, 20717-20723.
    • (1995) J. Biol. Chem. , vol.270 , pp. 20717-20723
    • Ellis, J.A.1    Luzlo, J.P.2
  • 11
  • 12
    • 0024419522 scopus 로고
    • Emery-Dreifuss syndrome
    • Emery, A. E. H. (1989). Emery-Dreifuss syndrome. J. Med. Gen. 26, 637-642.
    • (1989) J. Med. Gen. , vol.26 , pp. 637-642
    • Emery, A.E.H.1
  • 13
    • 0002073407 scopus 로고    scopus 로고
    • Duchenne and other X-linked muscular dystrophies
    • ed. D. L. Rimoin, J. M. Connor and R. E. Pyeritz, Churchill Livingstone
    • Emery, A. E. H. (1996). Duchenne and other X-linked muscular dystrophies. In Principles and Practices of Medical Genetics, 3rd edn (ed. D. L. Rimoin, J. M. Connor and R. E. Pyeritz), pp. 2337-2354. Churchill Livingstone.
    • (1996) Principles and Practices of Medical Genetics, 3rd Edn , pp. 2337-2354
    • Emery, A.E.H.1
  • 14
    • 0027276759 scopus 로고
    • Integral membrane proteins of the nuclear envelope interact with lamina and chromosomes, and binding is modulated by mitotic phosphorylation
    • Foisner, R. and Gerace, L. (1993). Integral membrane proteins of the nuclear envelope interact with lamina and chromosomes, and binding is modulated by mitotic phosphorylation. Cell 73, 1267-1279.
    • (1993) Cell , vol.73 , pp. 1267-1279
    • Foisner, R.1    Gerace, L.2
  • 15
    • 0028989340 scopus 로고
    • Cloning of a cDNA for lamina-associated polypeptide 2 (LAP2) and identification of regions that specify targeting to the nuclear envelope
    • Furukawa, K., Pante, N., Aebi, U. and Gerace, L. (1995). Cloning of a cDNA for lamina-associated polypeptide 2 (LAP2) and identification of regions that specify targeting to the nuclear envelope. EMBO J. 14, 1626-1636.
    • (1995) EMBO J. , vol.14 , pp. 1626-1636
    • Furukawa, K.1    Pante, N.2    Aebi, U.3    Gerace, L.4
  • 16
    • 0009762312 scopus 로고
    • Preparation of nuclei and nuclear envelopes: Identification of an integral membrane protein unique to the nuclear envelope
    • ed. J. E. Celis, . Academic Press
    • Hallberg, E. (1994). Preparation of nuclei and nuclear envelopes: identification of an integral membrane protein unique to the nuclear envelope. In Cell Biology: A Laboratory Handbook (ed. J. E. Celis), pp. 613-618. Academic Press.
    • (1994) Cell Biology: A Laboratory Handbook , pp. 613-618
    • Hallberg, E.1
  • 17
    • 0025184422 scopus 로고
    • Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum
    • Jackson, M. R., Nilsson, T. and Peterson, P. A. (1990). Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum. EMBO. J. 9, 3153
    • (1990) EMBO. J. , vol.9 , pp. 3153
    • Jackson, M.R.1    Nilsson, T.2    Peterson, P.A.3
  • 18
    • 0028892092 scopus 로고
    • Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy
    • Klauck, S. M., Wilgenbus, P., Yates, J. R. W., Muller, C. R. and Poustka, A. (1995). Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Hum. Mol. Gen. 4, 1853-1857.
    • (1995) Hum. Mol. Gen. , vol.4 , pp. 1853-1857
    • Klauck, S.M.1    Wilgenbus, P.2    Yates, J.R.W.3    Muller, C.R.4    Poustka, A.5
  • 19
    • 0027401769 scopus 로고
    • A class of membrane proteins with a C-terminal anchor
    • Kutay, U., Hartmann, E. and Rapoport, T. A. (1993). A class of membrane proteins with a C-terminal anchor. Trends Cell Biol. 3, 72-75.
    • (1993) Trends Cell Biol. , vol.3 , pp. 72-75
    • Kutay, U.1    Hartmann, E.2    Rapoport, T.A.3
  • 20
    • 0028837490 scopus 로고
    • Transport route for synaptobrevin via a novel pathway of insertion into the endoplasmic reticulum membrane
    • Kutay, U., Ahnert-Hilger, G., Hartmann, E., Wiedenmann, B. and Rapoport, T. A. (1995). Transport route for synaptobrevin via a novel pathway of insertion into the endoplasmic reticulum membrane. EMBO. J. 14, 217-223.
    • (1995) EMBO. J. , vol.14 , pp. 217-223
    • Kutay, U.1    Ahnert-Hilger, G.2    Hartmann, E.3    Wiedenmann, B.4    Rapoport, T.A.5
  • 21
    • 0014949207 scopus 로고
    • Cleavage of structural proteins during assembly of the head of bacteriophage T4
    • Laemmli, U. K. (1970). Cleavage of structural proteins during assembly of the head of bacteriophage T4. Nature 227, 680-685.
    • (1970) Nature , vol.227 , pp. 680-685
    • Laemmli, U.K.1
  • 23
    • 0027509617 scopus 로고
    • Cell biological studies with monoclonal antibodies and polyclonal antibodies aginst human casein kinase II subunit β demonstrate participation of the kinase in mitogenic signalling
    • Lurenz, P., Pepperkok, R., Ansorge, W. and Pyerin, W. (1993). Cell biological studies with monoclonal antibodies and polyclonal antibodies aginst human casein kinase II subunit β demonstrate participation of the kinase in mitogenic signalling. J. Biol. Chem. 268, 2733-2739.
    • (1993) J. Biol. Chem. , vol.268 , pp. 2733-2739
    • Lurenz, P.1    Pepperkok, R.2    Ansorge, W.3    Pyerin, W.4
  • 24
    • 0008395619 scopus 로고
    • Antibody screening of bacterial expression systems. in Gene
    • ed. B. D. Hames and S. J. Higgins, IRL Press, Oxford, UK
    • Luzio, J. P., Eills, J. A., Thomas, S. and Banting, G. (1995). Antibody screening of bacterial expression systems. In Gene Probes: a Practical Approach. Vol. II (ed. B. D. Hames and S. J. Higgins), pp. 77-101. IRL Press, Oxford, UK.
    • (1995) Probes: A Practical Approach , vol.2 , pp. 77-101
    • Luzio, J.P.1    Eills, J.A.2    Thomas, S.3    Banting, G.4
  • 25
    • 0010397284 scopus 로고    scopus 로고
    • The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear protein
    • Manilal, S., Nguyen thi Man, Sewry, C. A. and Morris, G. E. (1996). The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear protein. Hum. Mol. Gen. 5, 801-808.
    • (1996) Hum. Mol. Gen. , vol.5 , pp. 801-808
    • Manilal, S.1    Man, N.T.2    Sewry, C.A.3    Morris, G.E.4
  • 26
    • 0030022935 scopus 로고    scopus 로고
    • A casein kinase II phosphorylation site in the cytoplasmic domain of the cation-dependent mannose 6-phosphate receptor determines the high affinity interaction of the AP-1 Golgi assembly proteins with membranes
    • Mauxion, F., Le Borgne, R., Munier-Lehmann, H. and Hoflack, B. (1996). A casein kinase II phosphorylation site in the cytoplasmic domain of the cation-dependent mannose 6-phosphate receptor determines the high affinity interaction of the AP-1 Golgi assembly proteins with membranes. J Biol. Chem. 271, 2171-22178.
    • (1996) J Biol. Chem. , vol.271 , pp. 2171-22178
    • Mauxion, F.1    Le Borgne, R.2    Munier-Lehmann, H.3    Hoflack, B.4
  • 28
    • 0026813618 scopus 로고
    • Assembly-disassembly of the nuclear lamina
    • Nigg, E. A. (1992). Assembly-disassembly of the nuclear lamina. Curr. Opin. Cell Biol. 4, 105-109.
    • (1992) Curr. Opin. Cell Biol. , vol.4 , pp. 105-109
    • Nigg, E.A.1
  • 29
    • 0027186606 scopus 로고
    • cdc2and its companion cyclin-dependent kinases
    • cdc2and its companion cyclin-dependent kinases. Trends Cell Biol. 3, 296-301.
    • (1993) Trends Cell Biol. , vol.3 , pp. 296-301
    • Nigg, E.A.1
  • 30
    • 0029942782 scopus 로고    scopus 로고
    • A nuclear envelope-associated kinase phosphorylates arginine-serine motifs and modulates interactions between the lamin B receptor and other nuclear proteins
    • Nikolakaki, E., Simos, G., Georgatos, S. D. and Giannakouros, T. (1996). A nuclear envelope-associated kinase phosphorylates arginine-serine motifs and modulates interactions between the lamin B receptor and other nuclear proteins. J. Biol. Chem. 271, 8365-8372.
    • (1996) J. Biol. Chem. , vol.271 , pp. 8365-8372
    • Nikolakaki, E.1    Simos, G.2    Georgatos, S.D.3    Giannakouros, T.4
  • 31
    • 0027489133 scopus 로고
    • Sorting of membrane proteins in the secretory pathway
    • Pelham, H. R. B. and Munro, S. (1993). Sorting of membrane proteins in the secretory pathway. Cell 75, 603-605.
    • (1993) Cell , vol.75 , pp. 603-605
    • Pelham, H.R.B.1    Munro, S.2
  • 33
    • 0023806075 scopus 로고
    • Single-step purification of polypeptides expressed in E. coli as fusions with glutathione S-transferase
    • Smith, D. B. and Johnson. K. S. (1988). Single-step purification of polypeptides expressed in E. coli as fusions with glutathione S-transferase. Gene (Amst.) 67, 31-40.
    • (1988) Gene (Amst.) , vol.67 , pp. 31-40
    • Smith, D.B.1    Johnson, K.S.2
  • 34
    • 0029069183 scopus 로고
    • Signals and structural features involved in integral membrane protein targeting to the inner nuclear membrane
    • Soulham, B. and Wormun, H. J. (1995). Signals and structural features involved in integral membrane protein targeting to the inner nuclear membrane. J. Cell. Biol. 130, 15-27.
    • (1995) J. Cell. Biol. , vol.130 , pp. 15-27
    • Soulham, B.1    Wormun, H.J.2
  • 35
    • 0029568029 scopus 로고
    • Distinct phosphorylation sites differentially influenee facilitated transport of an NLS-protein and its subsequent intranuclear binding
    • Vancurova, I., Jochova-Rupes, J., Lou, W. and Paine, P. L. (1995). Distinct phosphorylation sites differentially influenee facilitated transport of an NLS-protein and its subsequent intranuclear binding. Biochem. Biophys. Res. Commun. 217, 419-427.
    • (1995) Biochem. Biophys. Res. Commun. , vol.217 , pp. 419-427
    • Vancurova, I.1    Jochova-Rupes, J.2    Lou, W.3    Paine, P.L.4
  • 36
    • 0002005983 scopus 로고
    • Muscle satellite cell populations in Duchenne dystrophy
    • ed. A. Mauro. Raven Press. New York
    • Wakayama, Y. and Schotland, D. L. (1979). Muscle satellite cell populations in Duchenne dystrophy. In Muscle Regeneration (ed. A. Mauro). p. 121. Raven Press. New York.
    • (1979) Muscle Regeneration , pp. 121
    • Wakayama, Y.1    Schotland, D.L.2
  • 37
    • 0029033861 scopus 로고
    • The Rb protein and cell cycle control
    • Weinberg, R. A. (1995). The Rb protein and cell cycle control. Cell 81, 323-330.
    • (1995) Cell , vol.81 , pp. 323-330
    • Weinberg, R.A.1
  • 38
    • 0025149541 scopus 로고
    • The lamin B receptor of the nuclear envelope inner membrane: A polytopic protein with eight potential transmembrane domains
    • Worman, H. J., Evans, C. D. and Blobel, G. (1990). The lamin B receptor of the nuclear envelope inner membrane: a polytopic protein with eight potential transmembrane domains. J. Cell Biol. 111, 1535-1542.
    • (1990) J. Cell Biol. , vol.111 , pp. 1535-1542
    • Worman, H.J.1    Evans, C.D.2    Blobel, G.3
  • 39
    • 0030560884 scopus 로고    scopus 로고
    • Skeletal muscle determination and differentiation: Story of a core regulatory network and its context
    • Yun, K. and Wold, B. (1996). Skeletal muscle determination and differentiation: story of a core regulatory network and its context. Curr. Opin. Cell Biol. 8, 877-889
    • (1996) Curr. Opin. Cell Biol. , vol.8 , pp. 877-889
    • Yun, K.1    Wold, B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.