메뉴 건너뛰기




Volumn 103, Issue 3, 1999, Pages 355-363

The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations

Author keywords

[No Author keywords available]

Indexed keywords

FAS ANTIGEN;

EID: 0032931219     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI5121     Document Type: Article
Times cited : (142)

References (44)
  • 1
    • 0030684009 scopus 로고    scopus 로고
    • Requirement of cysteine-rich repeats of the fas receptor for binding by the fas ligand
    • Orlinick, J.R., Vaishnaw, A.K, Elkon, K.B., and Chao, M.V. 1997. Requirement of cysteine-rich repeats of the Fas receptor for binding by the Fas ligand. J. Biol. Chem. 272:28889-28894.
    • (1997) J. Biol. Chem. , vol.272 , pp. 28889-28894
    • Orlinick, J.R.1    Vaishnaw, A.K.2    Elkon, K.B.3    Chao, M.V.4
  • 2
    • 0030892234 scopus 로고    scopus 로고
    • Apoptosis by death factor
    • Nagata, S. 1997. Apoptosis by death factor. Cell. 88:355-365.
    • (1997) Cell , vol.88 , pp. 355-365
    • Nagata, S.1
  • 3
    • 0029026548 scopus 로고
    • Fadd, a novel death domain-containing protein, interacts with the death domain of fas and initiates apoptosis
    • Chinnaiyan, A.M., O'Rourke, K., Tewari, M., and Dixit, V.M. 1995. FADD, a novel death domain-containing protein, interacts with the death domain of Fas and initiates apoptosis. Cell. 81:505-512.
    • (1995) Cell , vol.81 , pp. 505-512
    • Chinnaiyan, A.M.1    O'Rourke, K.2    Tewari, M.3    Dixit, V.M.4
  • 4
    • 0028913550 scopus 로고
    • A novel protein that interacts with the death domain of fas/apo-1 contains a sequence motif related to the death domain
    • Boldin, M.P., et al. 1995. A novel protein that interacts with the death domain of Fas/Apo-1 contains a sequence motif related to the death domain. J. Biol. Chem. 270:7795-7798.
    • (1995) J. Biol. Chem. , vol.270 , pp. 7795-7798
    • Boldin, M.P.1
  • 5
    • 0030702084 scopus 로고    scopus 로고
    • Caspases: Intracellular signaling by proteolysis
    • Salvesen, G.S., and Dixit, V.M. 1997. Caspases: intracellular signaling by proteolysis. Cell 14:443-446.
    • (1997) Cell , vol.14 , pp. 443-446
    • Salvesen, G.S.1    Dixit, V.M.2
  • 6
    • 0029127286 scopus 로고
    • Role for ceramide as an endogenous mediator of fas-induced cytotoxicity
    • Tepper, C.G., et al. 1995. Role for ceramide as an endogenous mediator of Fas-induced cytotoxicity. Proc. Natl. Acad. Sci. USA. 92:8443-8447.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 8443-8447
    • Tepper, C.G.1
  • 7
    • 0028095477 scopus 로고
    • Apoptotic signaling through cd95 (fas/apo-1) activates an acidic sphingomyelinase
    • Cifone, M.G., et al. 1994. Apoptotic signaling through CD95 (Fas/Apo-1) activates an acidic sphingomyelinase. J. Exp. Med. 177:1547-1552.
    • (1994) J. Exp. Med. , vol.177 , pp. 1547-1552
    • Cifone, M.G.1
  • 8
    • 16044364385 scopus 로고    scopus 로고
    • Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis
    • Santana, P., et al. 1996. Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. Cell. 86:189-199.
    • (1996) Cell , vol.86 , pp. 189-199
    • Santana, P.1
  • 9
    • 0031587883 scopus 로고    scopus 로고
    • Daxx, a novel fas-binding protein that activates jnk and apoptosis
    • Yang, X., Khosravi-Far, R., Chang, H.Y., and Baltimore, D. 1997. Daxx, a novel Fas-binding protein that activates JNK and apoptosis. Cell. 89:1067-1076.
    • (1997) Cell , vol.89 , pp. 1067-1076
    • Yang, X.1    Khosravi-Far, R.2    Chang, H.Y.3    Baltimore, D.4
  • 10
    • 0032525052 scopus 로고    scopus 로고
    • Phosphorylation of fadd/mort1 and fas by kinases that associate with the membrane-proximal cytoplasmic domain of fas
    • Kennedy, N.J., and Budd, R.C. 1998. Phosphorylation of FADD/MORT1 and Fas by kinases that associate with the membrane-proximal cytoplasmic domain of Fas. J. Immunol. 160:4881-4888.
    • (1998) J. Immunol. , vol.160 , pp. 4881-4888
    • Kennedy, N.J.1    Budd, R.C.2
  • 11
    • 0027314703 scopus 로고
    • Mature tcells of autoimmune lpr/lpr mice have a defect in antigen-stimulated suicide
    • Russell, J.H., Rush, B., Weaver, C., and Wang, R. 1993. Mature Tcells of autoimmune lpr/lpr mice have a defect in antigen-stimulated suicide. Proc. Natl. Acad. Sci. USA. 90:4409-4413.
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 4409-4413
    • Russell, J.H.1    Rush, B.2    Weaver, C.3    Wang, R.4
  • 12
    • 0028485743 scopus 로고
    • The fas antigen is involved in peripheral but not thymic deletion of t lymphocytes in tcell receptor transgenic mice
    • Singer, G.G., and Abbas, A.K. 1994. The Fas antigen is involved in peripheral but not thymic deletion of T lymphocytes in Tcell receptor transgenic mice. Immunity. 1:365-371.
    • (1994) Immunity , vol.1 , pp. 365-371
    • Singer, G.G.1    Abbas, A.K.2
  • 13
    • 0030592564 scopus 로고    scopus 로고
    • Expansion or elimination of b cells in vivo: Dual roles for cd40- and fas (cd95)-ligands modulated by the b cell antigen receptor
    • Rathmell, J.C., Townsend, S.E., Xu, J.C., Flavell, R.A., and Goodnow, C.C. 1996. Expansion or elimination of B cells in vivo: dual roles for CD40- and Fas (CD95)-ligands modulated by the B cell antigen receptor. Cell. 57:319-329.
    • (1996) Cell , vol.57 , pp. 319-329
    • Rathmell, J.C.1    Townsend, S.E.2    Xu, J.C.3    Flavell, R.A.4    Goodnow, C.C.5
  • 14
    • 0025875259 scopus 로고
    • Lpr and gld: Single gene models of systemic autoimmunity and lymphoproliferative disease
    • Cohen, P.L., and Eisenberg, R.A. 1991. lpr and gld: single gene models of systemic autoimmunity and lymphoproliferative disease. Annu. Rev. Immunol. 9:243-269.
    • (1991) Annu. Rev. Immunol. , vol.9 , pp. 243-269
    • Cohen, P.L.1    Eisenberg, R.A.2
  • 15
    • 0014097538 scopus 로고
    • Chronic lymphadenopathy simulating malignant lymphoma
    • Canale, V.C., and Smith, H.C. 1967. Chronic lymphadenopathy simulating malignant lymphoma. J. Pediatr. 70:891-899.
    • (1967) J. Pediatr. , vol.70 , pp. 891-899
    • Canale, V.C.1    Smith, H.C.2
  • 16
    • 0029802697 scopus 로고    scopus 로고
    • The canale smith syndrome: An inherited autoimmune disorder associated with defective lymphocyte apoptosis and mutations in the fas gene
    • Drappa J., Vaishnaw, A.K., Sullivan, K.E., Chu, J.L., and Elkon, K.B. 1996. The Canale Smith syndrome: an inherited autoimmune disorder associated with defective lymphocyte apoptosis and mutations in the Fas gene. N. Engl. J. Med. 335:1643-1649.
    • (1996) N. Engl. J. Med. , vol.335 , pp. 1643-1649
    • Drappa, J.1    Vaishnaw, A.K.2    Sullivan, K.E.3    Chu, J.L.4    Elkon, K.B.5
  • 17
    • 0026758658 scopus 로고
    • A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease
    • Sneller, M.G., et al. 1992. A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin. Invest. 90:334-341.
    • (1992) J Clin. Invest. , vol.90 , pp. 334-341
    • Sneller, M.G.1
  • 18
    • 0029006893 scopus 로고
    • Mutations in fas associated with human lymphoproliferative syndrome and autoimmunity
    • Rieux-Laucat, F., et al. 1995. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science. 268:1347-1349.
    • (1995) Science , vol.268 , pp. 1347-1349
    • Rieux-Laucat, F.1
  • 19
    • 0029025441 scopus 로고
    • Dominant interfering fas gene mutations impair apoptosis in a human lymphoproliferative syndrome
    • Fisher, G.H., et al. 1995. Dominant interfering Fas gene mutations impair apoptosis in a human lymphoproliferative syndrome. Cell. 81:935-946.
    • (1995) Cell , vol.81 , pp. 935-946
    • Fisher, G.H.1
  • 20
    • 17144433746 scopus 로고    scopus 로고
    • Deficiency of the fas pathway without fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation
    • Dianzani, U., et al. 1997. Deficiency of the Fas pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation. Blood. 89:2871-2879.
    • (1997) Blood , vol.89 , pp. 2871-2879
    • Dianzani, U.1
  • 21
    • 0030952229 scopus 로고    scopus 로고
    • Missense mutations in the fas gene resulting in autoimmune lymphoproliferative syndrome: A molecular and immunological analysis
    • Bettinardi, A., et al. 1997. Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: A molecular and immunological analysis. Blood. 89:902-909.
    • (1997) Blood , vol.89 , pp. 902-909
    • Bettinardi, A.1
  • 22
    • 0030614415 scopus 로고    scopus 로고
    • Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis
    • Sneller, M.C., et al. 1997. Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood. 89:1341-1348.
    • (1997) Blood , vol.89 , pp. 1341-1348
    • Sneller, M.C.1
  • 23
    • 0030610755 scopus 로고    scopus 로고
    • Fas/apol mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis
    • Pensati, L., et al. 1997. Fas/Apol mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis. Gastroenterology. 113:1384-1389.
    • (1997) Gastroenterology , vol.113 , pp. 1384-1389
    • Pensati, L.1
  • 24
    • 6844240196 scopus 로고    scopus 로고
    • Novel fas (cd95/apo-1) mutations in infants with a lymphoproliferative disorder
    • Kasahara, Y., et al. 1998. Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. Int. Immunol. 10:195-202.
    • (1998) Int. Immunol. , vol.10 , pp. 195-202
    • Kasahara, Y.1
  • 25
    • 0016277876 scopus 로고
    • Hereditary splenomegaly with hypersplenism
    • Rao, L. M., Shahidi, N.T., and Opitz, J.M. 1974. Hereditary splenomegaly with hypersplenism. Clin. Genet. 5:379-386.
    • (1974) Clin. Genet. , vol.5 , pp. 379-386
    • Rao, L.M.1    Shahidi, N.T.2    Opitz, J.M.3
  • 26
    • 0024347970 scopus 로고
    • Monoclonal antibody-mediated tumor regression by apoptosis
    • Trauth, B. C., et al. 1989. Monoclonal antibody-mediated tumor regression by apoptosis. Science. 245:301-305.
    • (1989) Science , vol.245 , pp. 301-305
    • Trauth, B.C.1
  • 27
    • 0345236199 scopus 로고    scopus 로고
    • Sle patients wirh high plasma levels of sfas are at risk for developing a relapse
    • In press
    • Van Lopik, T., et al. 1999. SLE patients wirh high plasma levels of sFas are at risk for developing a relapse. J Rheumatol. In press.
    • (1999) J Rheumatol.
    • Van Lopik, T.1
  • 28
    • 0028928654 scopus 로고
    • Massive upregulation of the fas ligand in lpr and gld mice
    • Chu, J.L., et al. 1995. Massive upregulation of the Fas ligand in lpr and gld mice. J. Exp. Med. 181:393-398.
    • (1995) J. Exp. Med. , vol.181 , pp. 393-398
    • Chu, J.L.1
  • 29
    • 0031452639 scopus 로고    scopus 로고
    • Separate domains of the human fas ligand dictate self-association and receptor binding
    • Orlinick, J.R., Elkon, K.B., and Chao, M.V. 1997. Separate domains of the human Fas ligand dictate self-association and receptor binding. J. Biol. Chem. 272:32221-32229.
    • (1997) J. Biol. Chem. , vol.272 , pp. 32221-32229
    • Orlinick, J.R.1    Elkon, K.B.2    Chao, M.V.3
  • 31
    • 0030465072 scopus 로고    scopus 로고
    • Nmr structure and mutagenesis of the fas (apo-1/cd95) death domain
    • Huang, B., Eberstadt, M., Olejniczak, E., Meadows, R., and Fesik, S. 1996. NMR structure and mutagenesis of the Fas (APO-1/CD95) death domain. Nature. 384:638-641.
    • (1996) Nature , vol.384 , pp. 638-641
    • Huang, B.1    Eberstadt, M.2    Olejniczak, E.3    Meadows, R.4    Fesik, S.5
  • 32
    • 0028963667 scopus 로고
    • Three functional soluble forms of the human apoptosis-inducing fas molecule are produced by alternative splicing
    • Cascino, I., Fiucci, G., Papoff, G., and Ruberti, G. 1995. Three functional soluble forms of the human apoptosis-inducing Fas molecule are produced by alternative splicing. J. Immunol. 154:2706-2713.
    • (1995) J. Immunol. , vol.154 , pp. 2706-2713
    • Cascino, I.1    Fiucci, G.2    Papoff, G.3    Ruberti, G.4
  • 33
    • 0030011398 scopus 로고    scopus 로고
    • Involvement of mach, a novel mort1/fadd-interacting protease, in fas/apo-1 and tnf receptor-induced cell death
    • Boldin, M.P., Goncharov, T.M., Goltsev, Y.V., and Wallach, D. 1996. Involvement of MACH, a novel MORT1/FADD-interacting protease, in Fas/Apo-1 and TNF receptor-induced cell death. Cell. 85:803-815.
    • (1996) Cell , vol.85 , pp. 803-815
    • Boldin, M.P.1    Goncharov, T.M.2    Goltsev, Y.V.3    Wallach, D.4
  • 34
    • 15844412409 scopus 로고    scopus 로고
    • Flice, a novel fadd-homologous ice/ced-3-like protease, is recruited to the cd95 (fas/apo-1) death-inducing signaling complex
    • Muzio, M., et al. 1996. FLICE, a novel FADD-homologous ICE/CED-3-like protease, is recruited to the CD95 (Fas/APO-1) death-inducing signaling complex. Cell. 85:817-827.
    • (1996) Cell , vol.85 , pp. 817-827
    • Muzio, M.1
  • 35
    • 0030934465 scopus 로고    scopus 로고
    • Fas-associated death domain protein interleukin-1beta-converting enzyme 2 (flice2), an ice/ced-3 homologue, is proximally involved in cd95- and p55-mediated death signaling
    • Vincenz, C., and Dixit, V.M. 1997. Fas-associated death domain protein interleukin-1beta-converting enzyme 2 (FLICE2), an ICE/Ced-3 homologue, is proximally involved in CD95- and p55-mediated death signaling. J. Biol. Chem. 7:6578-6583.
    • (1997) J. Biol. Chem. , vol.7 , pp. 6578-6583
    • Vincenz, C.1    Dixit, V.M.2
  • 36
    • 0025222978 scopus 로고
    • A thermodynamic scale for the helix-forming tendencies of the commonly occurring amino acids
    • O'Neil, K.T., and DeGrado, W.F. 1990. A thermodynamic scale for the helix-forming tendencies of the commonly occurring amino acids. Science. 250:646-651.
    • (1990) Science , vol.250 , pp. 646-651
    • O'Neil, K.T.1    DeGrado, W.F.2
  • 37
    • 0025804130 scopus 로고
    • Large differences in the helix propensities of alanine and glycine
    • Chakrabartry, A., Schellman, J.A., and Baldwin, R.L. 1991. Large differences in the helix propensities of alanine and glycine. Nature. 351:586-588.
    • (1991) Nature , vol.351 , pp. 586-588
    • Chakrabartry, A.1    Schellman, J.A.2    Baldwin, R.L.3
  • 38
    • 0032546387 scopus 로고    scopus 로고
    • Fasmediated apoptosis and activation-induced t cell proliferation are defective in mice lacking fadd/mort1
    • Zhang, J., Cado, D., Chen, A., Kabra, N.H., and Winoto, A. 1998. Fasmediated apoptosis and activation-induced T cell proliferation are defective in mice lacking FADD/Mort1. Nature. 392:296-300.
    • (1998) Nature , vol.392 , pp. 296-300
    • Zhang, J.1    Cado, D.2    Chen, A.3    Kabra, N.H.4    Winoto, A.5
  • 39
    • 0032472916 scopus 로고    scopus 로고
    • A dominant interfering mutant of fadd/mort1 enhances deletion of autoreactive thymocytes and inhibits proliferation of mature t lymphocytes
    • Newton, K., Harris, A.W., Bath, M.L., Smith, K.G.C., and Strasser, A. 1998. A dominant interfering mutant of FADD/MORT1 enhances deletion of autoreactive thymocytes and inhibits proliferation of mature T lymphocytes. EMBO, J. 17:706-718.
    • (1998) EMBO, J. , vol.17 , pp. 706-718
    • Newton, K.1    Harris, A.W.2    Bath, M.L.3    Smith, K.G.C.4    Strasser, A.5
  • 40
    • 0031884694 scopus 로고    scopus 로고
    • A three-dimensional model of the fas/apo-1 molecule: Cross-reactivity of anti-fas antibodies explained by structural mimicry of antigenic sites
    • Fadeel, B., Lindberg, J., Achour, A., and Chiodi, F. 1998. A three-dimensional model of the Fas/Apo-1 molecule: cross-reactivity of anti-Fas antibodies explained by structural mimicry of antigenic sites. Int. Immunol. 10:131-140.
    • (1998) Int. Immunol. , vol.10 , pp. 131-140
    • Fadeel, B.1    Lindberg, J.2    Achour, A.3    Chiodi, F.4
  • 43
    • 0027336411 scopus 로고
    • cg in the heterozygous state on different genetic backgrounds
    • cg in the heterozygous state on different genetic backgrounds. Cell. Immunol. 148:91-102.
    • (1993) Cell. Immunol. , vol.148 , pp. 91-102
    • Ogata, Y.1
  • 44
    • 0027484072 scopus 로고
    • Fas transduces activation signals in normal human t lymphocytes
    • Alderson, M.R., et al. 1993. Fas transduces activation signals in normal human T lymphocytes. J. Exp. Med. 178:2231-2235.
    • (1993) J. Exp. Med. , vol.178 , pp. 2231-2235
    • Alderson, M.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.