메뉴 건너뛰기




Volumn 122, Issue 21, 2009, Pages 3994-4002

Dominant pro-vasopressin mutants that cause diabetes insipidus form disulfide-linked fibrillar aggregates in the endoplasmic reticulum

Author keywords

Aggregates; Diabetes insipidus; Fibrils; Neurophysin; Vasopressin

Indexed keywords

CALRETICULIN; CYSTEINE; FIBRIN; VASOPRESSIN;

EID: 70450230337     PISSN: 00219533     EISSN: None     Source Type: Journal    
DOI: 10.1242/jcs.051136     Document Type: Article
Times cited : (67)

References (28)
  • 2
    • 0026011671 scopus 로고
    • Hereditary diabetes insipidus: An immunohistochemical study of the hypothalamus and pituitary gland
    • Bergeron, C., Kovacs, K., Ezrin, C. and Mizzen, C. (1991). Hereditary diabetes insipidus: an immunohistochemical study of the hypothalamus and pituitary gland. Acta. Neuropathol. 81, 345-348.
    • (1991) Acta. Neuropathol , vol.81 , pp. 345-348
    • Bergeron, C.1    Kovacs, K.2    Ezrin, C.3    Mizzen, C.4
  • 3
    • 0033516578 scopus 로고    scopus 로고
    • Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus
    • Beuret, N., Rutishauser, J., Bider, M. D. and Spiess, M. (1999). Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus. J. Biol. Chem. 274, 18965-18972.
    • (1999) J. Biol. Chem , vol.274 , pp. 18965-18972
    • Beuret, N.1    Rutishauser, J.2    Bider, M.D.3    Spiess, M.4
  • 4
    • 2442616009 scopus 로고    scopus 로고
    • Expression of regulated secretory proteins is sufficient to generate granule-like structures in constitutively secreting cells
    • Beuret, N., Stettler, H., Renold, A., Rutishauser, J. and Spiess, M. (2004). Expression of regulated secretory proteins is sufficient to generate granule-like structures in constitutively secreting cells. J. Biol. Chem. 279, 20242-2029.
    • (2004) J. Biol. Chem , vol.279 , pp. 20242-22029
    • Beuret, N.1    Stettler, H.2    Renold, A.3    Rutishauser, J.4    Spiess, M.5
  • 5
    • 0000594624 scopus 로고
    • Hereditary idiopathic diabetes insipidus in a case report with autopsy findings
    • Braverman, L., Mancini, J. and McGoldrick, D. (1965). Hereditary idiopathic diabetes insipidus in a case report with autopsy findings. Ann. Intern. Med. 63, 503-508.
    • (1965) Ann. Intern. Med , vol.63 , pp. 503-508
    • Braverman, L.1    Mancini, J.2    McGoldrick, D.3
  • 6
    • 20444459545 scopus 로고    scopus 로고
    • Autophagy is a prosurvival mechanism in cells expressing an autosomal dominant familial neurohypophyseal diabetes insipidus mutant vasopressin transgene
    • Castino, R., Davies, J., Beaucourt, S., Isidoro, C. and Murphy, D. (2005). Autophagy is a prosurvival mechanism in cells expressing an autosomal dominant familial neurohypophyseal diabetes insipidus mutant vasopressin transgene. FASEB J. 19, 1021-1023.
    • (2005) FASEB J , vol.19 , pp. 1021-1023
    • Castino, R.1    Davies, J.2    Beaucourt, S.3    Isidoro, C.4    Murphy, D.5
  • 7
    • 0033953961 scopus 로고    scopus 로고
    • Increased generation of alternatively cleaved beta-amyloid peptides in cells expressing mutants of the amyloid precursor protein defective in endocytosis
    • Cescato, R., Dumermuth, E., Spiess, M. and Paganetti, P. A. (2000). Increased generation of alternatively cleaved beta-amyloid peptides in cells expressing mutants of the amyloid precursor protein defective in endocytosis. J. Neurochem. 74, 1131-1139.
    • (2000) J. Neurochem , vol.74 , pp. 1131-1139
    • Cescato, R.1    Dumermuth, E.2    Spiess, M.3    Paganetti, P.A.4
  • 8
    • 0025805918 scopus 로고
    • Crystal structure of a bovine neurophysin II dipeptide complex at 2.8 A determined from the single-wavelength anomalous scattering signal of an incorporated iodine atom
    • Chen, L. Q., Rose, J. P., Breslow, E., Yang, D., Chang, W. R., Furey, W. F., Jr, Sax, M. and Wang, B. C. (1991). Crystal structure of a bovine neurophysin II dipeptide complex at 2.8 A determined from the single-wavelength anomalous scattering signal of an incorporated iodine atom. Proc. Natl. Acad. Sci. USA 88, 4240-4244.
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 4240-4244
    • Chen, L.Q.1    Rose, J.P.2    Breslow, E.3    Yang, D.4    Chang, W.R.5    Furey Jr, W.F.6    Sax, M.7    Wang, B.C.8
  • 9
    • 33646497845 scopus 로고    scopus 로고
    • Familial neurohypophyseal diabetes insipidus-an update
    • Christensen, J. H. and Rittig, S. (2006). Familial neurohypophyseal diabetes insipidus-an update. Semin. Nephrol. 26, 209-223.
    • (2006) Semin. Nephrol , vol.26 , pp. 209-223
    • Christensen, J.H.1    Rittig, S.2
  • 10
    • 0842330810 scopus 로고    scopus 로고
    • Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus
    • Christensen, J. H., Siggaard, C., Corydon, T. J., Robertson, G. L., Gregersen, N., Bolund, L. and Rittig, S. (2004). Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus. Clin. Endocrinol. 60, 125-136.
    • (2004) Clin. Endocrinol , vol.60 , pp. 125-136
    • Christensen, J.H.1    Siggaard, C.2    Corydon, T.J.3    Robertson, G.L.4    Gregersen, N.5    Bolund, L.6    Rittig, S.7
  • 11
    • 0037181474 scopus 로고    scopus 로고
    • Mutant huntingtin aggregates do not sensitize cells to apoptotic stressors
    • Chun, W., Lesort, M., Lee, M. and Johnson, G. V. (2002). Mutant huntingtin aggregates do not sensitize cells to apoptotic stressors. FEBS Lett. 515, 61-65.
    • (2002) FEBS Lett , vol.515 , pp. 61-65
    • Chun, W.1    Lesort, M.2    Lee, M.3    Johnson, G.V.4
  • 12
    • 0036668073 scopus 로고    scopus 로고
    • Autophagy in hypothalamic neurones of rats expressing a familial neurohypophysial diabetes insipidus transgene
    • Davies, J. and Murphy, D. (2002). Autophagy in hypothalamic neurones of rats expressing a familial neurohypophysial diabetes insipidus transgene. J. Neuroendocrinol. 14, 629-637.
    • (2002) J. Neuroendocrinol , vol.14 , pp. 629-637
    • Davies, J.1    Murphy, D.2
  • 13
    • 2442475348 scopus 로고    scopus 로고
    • Degradation of wild-type vasopressin precursor and pathogenic mutants by the proteasome
    • Friberg, M. A., Spiess, M. and Rutishauser, J. (2004). Degradation of wild-type vasopressin precursor and pathogenic mutants by the proteasome. J. Biol. Chem. 279, 19441-19447.
    • (2004) J. Biol. Chem , vol.279 , pp. 19441-19447
    • Friberg, M.A.1    Spiess, M.2    Rutishauser, J.3
  • 14
    • 0014125477 scopus 로고
    • Hereditary and idiopathic types of diabetes insipidus
    • Green, J., Buchan, G., Alvord, E. and Swanson, A. (1967). Hereditary and idiopathic types of diabetes insipidus. Brain 90, 707-714.
    • (1967) Brain , vol.90 , pp. 707-714
    • Green, J.1    Buchan, G.2    Alvord, E.3    Swanson, A.4
  • 15
    • 0030953631 scopus 로고    scopus 로고
    • Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum
    • Ito, M. and Jameson, J. L. (1997). Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum. J. Clin. Invest. 99, 1897-1905.
    • (1997) J. Clin. Invest , vol.99 , pp. 1897-1905
    • Ito, M.1    Jameson, J.L.2
  • 16
    • 0027311315 scopus 로고
    • Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus
    • Ito, M., Oiso, Y., Murase, T., Kondo, K., Saito, H., Chinzei, T., Racchi, M. and Lively, M. O. (1993). Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus. J. Clin. Invest. 91, 2565-2571.
    • (1993) J. Clin. Invest , vol.91 , pp. 2565-2571
    • Ito, M.1    Oiso, Y.2    Murase, T.3    Kondo, K.4    Saito, H.5    Chinzei, T.6    Racchi, M.7    Lively, M.O.8
  • 17
    • 0031743855 scopus 로고    scopus 로고
    • The recycling pathway of protein ERGIC-53 and dynamics of the ER-Golgi intermediate compartment
    • Klumperman, J., Schweizer, A., Clausen, H., Tang, B. L., Hong, W., Oorschot, V. and Hauri, H. P. (1998). The recycling pathway of protein ERGIC-53 and dynamics of the ER-Golgi intermediate compartment. J. Cell. Sci. 111, 3411-3425.
    • (1998) J. Cell. Sci , vol.111 , pp. 3411-3425
    • Klumperman, J.1    Schweizer, A.2    Clausen, H.3    Tang, B.L.4    Hong, W.5    Oorschot, V.6    Hauri, H.P.7
  • 18
    • 33750361540 scopus 로고    scopus 로고
    • A century-old debate on protein aggregation and neurodegeneration enters the clinic
    • Lansbury, P. T. and Lashuel, H. A. (2006). A century-old debate on protein aggregation and neurodegeneration enters the clinic. Nature 443, 774-779.
    • (2006) Nature , vol.443 , pp. 774-779
    • Lansbury, P.T.1    Lashuel, H.A.2
  • 19
    • 33847652900 scopus 로고    scopus 로고
    • Autophagy and neurodegeneration: When the cleaning crew goes on strike
    • Martinez-Vicente, M. and Cuervo, A. M. (2007). Autophagy and neurodegeneration: when the cleaning crew goes on strike. Lancet Neurol. 6, 352-361.
    • (2007) Lancet Neurol , vol.6 , pp. 352-361
    • Martinez-Vicente, M.1    Cuervo, A.M.2
  • 20
    • 0021351449 scopus 로고
    • Two cases of hereditary diabetes insipidus, with an autopsy finding in one
    • Nagai, I., Li, C. H., Hsieh, S. M., Kizaki, T. and Urano, Y. (1984). Two cases of hereditary diabetes insipidus, with an autopsy finding in one. Acta. Endocrinol. 105, 318-323.
    • (1984) Acta. Endocrinol , vol.105 , pp. 318-323
    • Nagai, I.1    Li, C.H.2    Hsieh, S.M.3    Kizaki, T.4    Urano, Y.5
  • 21
    • 0033597771 scopus 로고    scopus 로고
    • Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting
    • Nijenhuis, M., Zalm, R. and Burbach, J. P. H. (1999). Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting. J. Biol. Chem. 274, 21200-21208.
    • (1999) J. Biol. Chem , vol.274 , pp. 21200-21208
    • Nijenhuis, M.1    Zalm, R.2    Burbach, J.P.H.3
  • 22
    • 0029801679 scopus 로고    scopus 로고
    • Heterologous expression of human vasopressin-neurophysin precursors in a pituitary cell line: Defective transport of a mutant protein from patients with familial diabetes insipidus
    • Olias, G., Richter, D. and Schmale, H. (1996). Heterologous expression of human vasopressin-neurophysin precursors in a pituitary cell line: defective transport of a mutant protein from patients with familial diabetes insipidus. DNA Cell. Biol. 15, 929-935.
    • (1996) DNA Cell. Biol , vol.15 , pp. 929-935
    • Olias, G.1    Richter, D.2    Schmale, H.3
  • 23
    • 27644596641 scopus 로고    scopus 로고
    • Opinion: What is the role of protein aggregation in neurodegeneration?
    • Ross, C. A. and Poirier, M. A. (2005). Opinion: What is the role of protein aggregation in neurodegeneration? Nat. Rev. Mol. Cell. Biol. 6, 891-898.
    • (2005) Nat. Rev. Mol. Cell. Biol , vol.6 , pp. 891-898
    • Ross, C.A.1    Poirier, M.A.2
  • 24
    • 0347600942 scopus 로고    scopus 로고
    • A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons
    • Russell, T. A., Ito, M., Yu, R. N., Martinson, F. A., Weiss, J. and Jameson, J. L. (2003). A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. J. Clin. Invest. 112, 1697-1706.
    • (2003) J. Clin. Invest , vol.112 , pp. 1697-1706
    • Russell, T.A.1    Ito, M.2    Yu, R.N.3    Martinson, F.A.4    Weiss, J.5    Jameson, J.L.6
  • 25
    • 0021223469 scopus 로고
    • Single base deletion in the vasopressin gene is the cause of diabetes insipidus in Brattleboro rats
    • Schmale, H. and Richter, D. (1984). Single base deletion in the vasopressin gene is the cause of diabetes insipidus in Brattleboro rats. Nature 308, 705-709.
    • (1984) Nature , vol.308 , pp. 705-709
    • Schmale, H.1    Richter, D.2
  • 26
    • 0033822702 scopus 로고    scopus 로고
    • Endoplasmic reticulum derangement in hypothalamic neurons of rats expressing a familial neurohypophyseal diabetes insipidus mutant vasopressin transgene
    • Si-Hoe, S. L., De Bree, F. M., Nijenhuis, M., Davies, J. E., Howell, L. M., Tinley, H., Waller, S. J., Zeng, Q., Zalm, R., Sonnemans, M. et al. (2000). Endoplasmic reticulum derangement in hypothalamic neurons of rats expressing a familial neurohypophyseal diabetes insipidus mutant vasopressin transgene. FASEB. J. 14, 1680-1684.
    • (2000) FASEB. J , vol.14 , pp. 1680-1684
    • Si-Hoe, S.L.1    De Bree, F.M.2    Nijenhuis, M.3    Davies, J.E.4    Howell, L.M.5    Tinley, H.6    Waller, S.J.7    Zeng, Q.8    Zalm, R.9    Sonnemans, M.10
  • 27
    • 0033334318 scopus 로고    scopus 로고
    • Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation
    • Siggaard, C., Rittig, S., Corydon, T. J., Andreasen, P. H., Jensen, T. G., Andresen, B. S., Robertson, G. L., Gregersen, N., Bolund, L. and Pedersen, E. B. (1999). Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. J. Clin. Endocrinol. Metab. 84, 2933-2941.
    • (1999) J. Clin. Endocrinol. Metab , vol.84 , pp. 2933-2941
    • Siggaard, C.1    Rittig, S.2    Corydon, T.J.3    Andreasen, P.H.4    Jensen, T.G.5    Andresen, B.S.6    Robertson, G.L.7    Gregersen, N.8    Bolund, L.9    Pedersen, E.B.10
  • 28
    • 0032805975 scopus 로고    scopus 로고
    • Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin
    • Willcutts, M. D., Felner, E. and White, P. C. (1999). Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. Hum. Mol. Genet. 8, 1303-1307.
    • (1999) Hum. Mol. Genet , vol.8 , pp. 1303-1307
    • Willcutts, M.D.1    Felner, E.2    White, P.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.