메뉴 건너뛰기




Volumn 26, Issue 11, 2012, Pages 4506-4516

Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function

Author keywords

Histone deacetylase inhibitor; Paraganglioma; Pheochromocytoma; Succinate dehydrogenase subunit B

Indexed keywords

HISTONE DEACETYLASE INHIBITOR; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE SUBUNIT B; UNCLASSIFIED DRUG;

EID: 84868298330     PISSN: None     EISSN: 15306860     Source Type: Journal    
DOI: 10.1096/fj.12-210146     Document Type: Article
Times cited : (44)

References (58)
  • 3
    • 55749091604 scopus 로고    scopus 로고
    • Treatment of malignant pheochromocytoma/paraganglioma with cyclophosphamide, vincristine, and dacarbazine: Recommendation from a 22-year follow-up of 18 patients
    • Huang, H., Abraham, J., Hung, E., Averbuch, S., Merino, M., Steinberg, S. M., Pacak, K., and Fojo, T. (2008) Treatment of malignant pheochromocytoma/ paraganglioma with cyclophosphamide, vincristine, and dacarbazine: recommendation from a 22-year follow-up of 18 patients. Cancer 113, 2020-2028
    • (2008) Cancer , vol.113 , pp. 2020-2028
    • Huang, H.1    Abraham, J.2    Hung, E.3    Averbuch, S.4    Merino, M.5    Steinberg, S.M.6    Pacak, K.7    Fojo, T.8
  • 5
    • 33947528891 scopus 로고    scopus 로고
    • Von hippel-lindau disease
    • Kaelin, W. G. (2007) Von Hippel-Lindau disease. Annu. Rev. Pathol. 2, 145-173
    • (2007) Annu. Rev. Pathol. , vol.2 , pp. 145-173
    • Kaelin, W.G.1
  • 6
    • 0030957310 scopus 로고    scopus 로고
    • The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
    • Gutmann, D. H., Aylsworth, A., Carey, J. C., Korf, B., Marks, J., Pyeritz, R. E., Rubenstein, A., and Viskochil, D. (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 278, 51-57
    • (1997) JAMA , vol.278 , pp. 51-57
    • Gutmann, D.H.1    Aylsworth, A.2    Carey, J.C.3    Korf, B.4    Marks, J.5    Pyeritz, R.E.6    Rubenstein, A.7    Viskochil, D.8
  • 7
    • 0032894774 scopus 로고    scopus 로고
    • Ret proto-oncogene in the development of human cancer
    • Eng, C. (1999) RET proto-oncogene in the development of human cancer. J. Clin. Oncol. 17, 380-393
    • (1999) J. Clin. Oncol. , vol.17 , pp. 380-393
    • Eng, C.1
  • 10
    • 28544446058 scopus 로고    scopus 로고
    • Mitochondrial tumour suppressors: A genetic and biochemical update
    • Gottlieb, E., and Tomlinson, I. P. (2005) Mitochondrial tumour suppressors: a genetic and biochemical update. Nat. Rev. Cancer 5, 857-866
    • (2005) Nat. Rev. Cancer , vol.5 , pp. 857-866
    • Gottlieb, E.1    Tomlinson, I.P.2
  • 11
    • 0037364314 scopus 로고    scopus 로고
    • A role for mitochondrial enzymes in inherited neoplasia and beyond
    • Eng, C., Kiuru, M., Fernandez, M. J., and Aaltonen, L. A. (2003) A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat. Rev. Cancer 3, 193-202
    • (2003) Nat. Rev. Cancer , vol.3 , pp. 193-202
    • Eng, C.1    Kiuru, M.2    Fernandez, M.J.3    Aaltonen, L.A.4
  • 12
    • 0344305801 scopus 로고    scopus 로고
    • On the association of succinate dehydrogenase mutations with hereditary paraganglioma
    • Baysal, B. E. (2003) On the association of succinate dehydrogenase mutations with hereditary paraganglioma. Trends Endocrinol. Metab. 14, 453-459
    • (2003) Trends Endocrinol. Metab. , vol.14 , pp. 453-459
    • Baysal, B.E.1
  • 13
    • 79958134806 scopus 로고    scopus 로고
    • Recent advances in the genetics of sdh-related paraganglioma and pheochromocytoma
    • Hensen, E. F., and Bayley, J. P. (2011) Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma. Fam. Cancer 10, 355-363
    • (2011) Fam. Cancer , vol.10 , pp. 355-363
    • Hensen, E.F.1    Bayley, J.P.2
  • 17
    • 37849022071 scopus 로고    scopus 로고
    • Loss of the sdhb, but not the sdha, subunit of complex ii triggers reactive oxygen species-dependent hypoxia-inducible factor activation and tumorigenesis
    • Guzy, R. D., Sharma, B., Bell, E., Chandel, N. S., and Schumacker, P. T. (2008) Loss of the SdhB, but Not the SdhA, subunit of complex II triggers reactive oxygen species-dependent hypoxia-inducible factor activation and tumorigenesis. Mol. Cell. Biol. 28, 718-731
    • (2008) Mol. Cell. Biol. , vol.28 , pp. 718-731
    • Guzy, R.D.1    Sharma, B.2    Bell, E.3    Chandel, N.S.4    Schumacker, P.T.5
  • 26
    • 33747893489 scopus 로고    scopus 로고
    • Mutation of succinate dehydrogenase subunit c results in increased o2, oxidative stress, and genomic instability
    • Slane, B. G., Aykin-Burns, N., Smith, B. J., Kalen, A. L., Goswami, P. C., Domann, F. E., and Spitz, D. R. (2006) Mutation of succinate dehydrogenase subunit C results in increased O2, oxidative stress, and genomic instability. Cancer Res. 66, 7615-7620
    • (2006) Cancer Res. , vol.66 , pp. 7615-7620
    • Slane, B.G.1    Aykin-Burns, N.2    Smith, B.J.3    Kalen, A.L.4    Goswami, P.C.5    Domann, F.E.6    Spitz, D.R.7
  • 27
    • 77953931313 scopus 로고    scopus 로고
    • Inter-connection between mitochondria and hifs
    • Tormos, K. V., and Chandel, N. S. (2010) Inter-connection between mitochondria and HIFs. J. Cell. Mol. Med. 14, 795-804
    • (2010) J. Cell. Mol. Med. , Issue.14 , pp. 795-804
    • Tormos, K.V.1    Chandel, N.S.2
  • 30
    • 77955172890 scopus 로고    scopus 로고
    • Tyrosine hydroxylase, chromogranin a, and steroidogenic acute regulator as markers for successful separation of human adrenal medulla
    • Fliedner, S. M., Breza, J., Kvetnansky, R., Powers, J. F., Tischler, A. S., Wesley, R., Merino, M., Lehnert, H., and Pacak, K. (2010) Tyrosine hydroxylase, chromogranin A, and steroidogenic acute regulator as markers for successful separation of human adrenal medulla. Cell Tissue Res. 340, 607-612
    • (2010) Cell Tissue Res. , Issue.340 , pp. 607-612
    • Fliedner, S.M.1    Breza, J.2    Kvetnansky, R.3    Powers, J.F.4    Tischler, A.S.5    Wesley, R.6    Merino, M.7    Lehnert, H.8    Pacak, K.9
  • 32
  • 35
    • 0030695339 scopus 로고    scopus 로고
    • Characterization of nedd8, a developmentally down-regulated ubiquitin-like protein
    • Kamitani, T., Kito, K., Nguyen, H. P., and Yeh, E. T. (1997) Characterization of NEDD8, a developmentally down-regulated ubiquitin-like protein. J. Biol. Chem. 272, 28557-28562
    • (1997) J. Biol. Chem. , vol.272 , pp. 28557-28562
    • Kamitani, T.1    Kito, K.2    Nguyen, H.P.3    Yeh, E.T.4
  • 37
    • 68449085905 scopus 로고    scopus 로고
    • Sdhb-Associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis
    • Henderson, A., Douglas, F., Perros, P., Morgan, C., and Maher, E. R. (2009) SDHB-Associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. Fam. Cancer 8, 257-260
    • (2009) Fam. Cancer , vol.8 , pp. 257-260
    • Henderson, A.1    Douglas, F.2    Perros, P.3    Morgan, C.4    Maher, E.R.5
  • 38
    • 19944392584 scopus 로고    scopus 로고
    • Mutations of the sdhb and sdhd genes
    • Pawlu, C., Bausch, B., and Neumann, H. P. (2005) Mutations of the SDHB and SDHD genes. Fam. Cancer 4, 49-54
    • (2005) Fam. Cancer , vol.4 , pp. 49-54
    • Pawlu, C.1    Bausch, B.2    Neumann, H.P.3
  • 40
    • 0023811039 scopus 로고
    • The in vitro insertion of monoamine oxidase b into mitochondrial outer membranes
    • Zhuang, Z., Hogan, M., and McCauley, R. (1988) The in vitro insertion of monoamine oxidase B into mitochondrial outer membranes. FEBS Lett. 238, 185-190
    • (1988) FEBS Lett. , vol.238 , pp. 185-190
    • Zhuang, Z.1    Hogan, M.2    McCauley, R.3
  • 41
    • 0026580106 scopus 로고
    • The insertion of monoamine oxidase a into the outer membrane of rat liver mitochondria
    • Zhuang, Z. P., Marks, B., and McCauley, R. B. (1992) The insertion of monoamine oxidase A into the outer membrane of rat liver mitochondria. J. Biol. Chem. 267, 591-596
    • (1992) J. Biol. Chem. , vol.267 , pp. 591-596
    • Zhuang, Z.P.1    Marks, B.2    McCauley, R.B.3
  • 43
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson, A. G., Jr. (1971) Mutation and cancer: statistical study of retinoblastoma. Proc. Natl. Acad. Sci. U. S. A. 68, 820-823
    • (1971) Proc. Natl. Acad. Sci. U. S. A. , vol.68 , pp. 820-823
    • Knudson Jr., A.G.1
  • 45
    • 80051680291 scopus 로고    scopus 로고
    • A continuum model for tumour suppression
    • Berger, A. H., Knudson, A. G., and Pandolfi, P. P. (2011) A continuum model for tumour suppression. Nature 476, 163-169
    • (2011) Nature , vol.476 , pp. 163-169
    • Berger, A.H.1    Knudson, A.G.2    Pandolfi, P.P.3
  • 50
    • 33646127577 scopus 로고    scopus 로고
    • Molecular chaperones and protein quality control
    • Bukau, B., Weissman, J., and Horwich, A. (2006) Molecular chaperones and protein quality control. Cell 125, 443-451
    • (2006) Cell , vol.125 , pp. 443-451
    • Bukau, B.1    Weissman, J.2    Horwich, A.3
  • 51
    • 23144443884 scopus 로고    scopus 로고
    • Protein quality control: Chaperones culling corrupt conformations
    • McClellan, A. J., Tam, S., Kaganovich, D., and Frydman, J. (2005) Protein quality control: chaperones culling corrupt conformations. Nat. Cell Biol. 7, 736-741
    • (2005) Nat. Cell Biol. , vol.7 , pp. 736-741
    • McClellan, A.J.1    Tam, S.2    Kaganovich, D.3    Frydman, J.4
  • 52
    • 0345708112 scopus 로고    scopus 로고
    • Tumorigenic mutations in vhl disrupt folding in vivo by interfering with chaperonin binding
    • Feldman, D. E., Spiess, C., Howard, D. E., and Frydman, J. (2003) Tumorigenic mutations in VHL disrupt folding in vivo by interfering with chaperonin binding. Mol. Cell. 12, 1213-1224
    • (2003) Mol. Cell. , vol.12 , pp. 1213-1224
    • Feldman, D.E.1    Spiess, C.2    Howard, D.E.3    Frydman, J.4
  • 53
    • 20444413061 scopus 로고    scopus 로고
    • Folding and quality control of the vhl tumor suppressor proceed through distinct chaperone pathways
    • McClellan, A. J., Scott, M. D., and Frydman, J. (2005) Folding and quality control of the VHL tumor suppressor proceed through distinct chaperone pathways. Cell 121, 739-748
    • (2005) Cell , vol.121 , pp. 739-748
    • McClellan, A.J.1    Scott, M.D.2    Frydman, J.3
  • 54
    • 0037404423 scopus 로고    scopus 로고
    • The hsp70 and tric/cct chaperone systems cooperate in vivo to assemble the von hippel-lindau tumor suppressor complex
    • Melville, M. W., McClellan, A. J., Meyer, A. S., Darveau, A., and Frydman, J. (2003) The Hsp70 and TRiC/CCT chaperone systems cooperate in vivo to assemble the von Hippel-Lindau tumor suppressor complex. Mol. Cell. Biol. 23, 3141-3151
    • (2003) Mol. Cell. Biol. , vol.23 , pp. 3141-3151
    • Melville, M.W.1    McClellan, A.J.2    Meyer, A.S.3    Darveau, A.4    Frydman, J.5
  • 56
    • 0028805059 scopus 로고
    • Suppression of growth of renal carcinoma cells by the von Hippel-Lindau tumor suppressor gene.
    • Chen, F., Kishida, T., Duh, F. M., Renbaum, P., Orcutt, M. L., Schmidt, L., and Zbar, B. (1995) Suppression of growth of renal carcinoma cells by the von Hippel-Lindau tumor suppressor gene. Cancer Res. 55, 4804-4807
    • (1995) Cancer Res. , vol.55 , pp. 4804-4807
    • Chen, F.1    Kishida, T.2    Duh, F.M.3    Renbaum, P.4    Orcutt, M.L.5    Schmidt, L.6    Zbar, B.7
  • 58
    • 0037422207 scopus 로고    scopus 로고
    • Novel succinate dehydrogenase subunit b (sdhb) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic sdhb mutations in sporadic phaeochromocytomas
    • Benn, D. E., Croxson, M. S., Tucker, K., Bambach, C. P., Richardson, A. L., Delbridge, L., Pullan, P. T., Hammond, J., Marsh, D. J., and Robinson, B. G. (2003) Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. Oncogene 22, 1358-1364
    • (2003) Oncogene , vol.22 , pp. 1358-1364
    • Benn, D.E.1    Croxson, M.S.2    Tucker, K.3    Bambach, C.P.4    Richardson, A.L.5    Delbridge, L.6    Pullan, P.T.7    Hammond, J.8    Marsh, D.J.9    Robinson, B.G.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.