메뉴 건너뛰기




Volumn 17, Issue 19, 2008, Pages 3043-3054

Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE; CASPASE 3; CELASTROL; CHAPERONE; LACTATE DEHYDROGENASE; MAMMALIAN TARGET OF RAPAMYCIN; OPSIN; RADICICOL; RAPAMYCIN; RETINOID; RHODOPSIN; TANESPIMYCIN; TREHALOSE;

EID: 52949134162     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn202     Document Type: Article
Times cited : (121)

References (40)
  • 2
    • 0026058548 scopus 로고
    • Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa
    • Sung, C.H., Schneider, B.G., Agarwal, N., Papermaster, D.S. and Nathans, J. (1991) Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc. Natl Acad. Sci. USA 88, 8840-8844.
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 8840-8844
    • Sung, C.H.1    Schneider, B.G.2    Agarwal, N.3    Papermaster, D.S.4    Nathans, J.5
  • 3
    • 0027452148 scopus 로고
    • Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain
    • Sung, C.H., Davenport, C.M. and Nathans, J. (1993) Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain. J. Biol. Chem., 268, 26645-26649.
    • (1993) J. Biol. Chem , vol.268 , pp. 26645-26649
    • Sung, C.H.1    Davenport, C.M.2    Nathans, J.3
  • 4
    • 0028287273 scopus 로고
    • Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa
    • Kaushal, S. and Khorana, H.G. (1994) Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa. Biochemistry, 33, 6121-6128.
    • (1994) Biochemistry , vol.33 , pp. 6121-6128
    • Kaushal, S.1    Khorana, H.G.2
  • 5
    • 17044363529 scopus 로고    scopus 로고
    • Mechanisms of cell death in rhodopsin retinitis pigmentosa: Implications for therapy
    • Mendes, H.F., van der Spuy, J., Chapple, J.P. and Cheetham, M.E. (2005) Mechanisms of cell death in rhodopsin retinitis pigmentosa: Implications for therapy. Trends Mol. Med., 11, 177-185.
    • (2005) Trends Mol. Med , vol.11 , pp. 177-185
    • Mendes, H.F.1    van der Spuy, J.2    Chapple, J.P.3    Cheetham, M.E.4
  • 6
    • 0742321905 scopus 로고    scopus 로고
    • The nature of dominant mutations of rhodopsin and implications for gene therapy
    • Wilson, J.H. and Wensel, T.G. (2003) The nature of dominant mutations of rhodopsin and implications for gene therapy. Mol. Neurobiol., 28, 149-158.
    • (2003) Mol. Neurobiol , vol.28 , pp. 149-158
    • Wilson, J.H.1    Wensel, T.G.2
  • 9
    • 0037099080 scopus 로고    scopus 로고
    • The cellular fate of mutant rhodopsin: Quality control, degradation and aggresome formation
    • Saliba, R.S., Munro, P.M., Luthert, P.J. and Cheetham, M.E. (2002) The cellular fate of mutant rhodopsin: Quality control, degradation and aggresome formation. J. Cell Sci., 115, 2907-2918.
    • (2002) J. Cell Sci , vol.115 , pp. 2907-2918
    • Saliba, R.S.1    Munro, P.M.2    Luthert, P.J.3    Cheetham, M.E.4
  • 10
    • 0037072934 scopus 로고    scopus 로고
    • A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system
    • Illing, M.E., Rajan, R.S., Bence, N.F. and Kopito, R.R. (2002) A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system. J. Biol. Chem., 277, 34150-34160.
    • (2002) J. Biol. Chem , vol.277 , pp. 34150-34160
    • Illing, M.E.1    Rajan, R.S.2    Bence, N.F.3    Kopito, R.R.4
  • 11
    • 33748100274 scopus 로고    scopus 로고
    • Characterization of rhodopsin P23H-induced retinal degeneration in a Xenopus laevis model of retinitis pigmentosa
    • Tam, B.M. and Moritz, O.L. (2006) Characterization of rhodopsin P23H-induced retinal degeneration in a Xenopus laevis model of retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci., 47, 3234-3241.
    • (2006) Invest. Ophthalmol. Vis. Sci , vol.47 , pp. 3234-3241
    • Tam, B.M.1    Moritz, O.L.2
  • 13
    • 12544250742 scopus 로고    scopus 로고
    • Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa
    • Rajan, R.S. and Kopito, R.R. (2005) Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa. J. Biol. Chem., 280, 1284-1291.
    • (2005) J. Biol. Chem , vol.280 , pp. 1284-1291
    • Rajan, R.S.1    Kopito, R.R.2
  • 14
    • 0034578389 scopus 로고    scopus 로고
    • Aggresomes, inclusion bodies and protein aggregation
    • Kopito, R.R. (2000) Aggresomes, inclusion bodies and protein aggregation. Trends Cell Biol., 10, 524-530.
    • (2000) Trends Cell Biol , vol.10 , pp. 524-530
    • Kopito, R.R.1
  • 15
    • 39349083915 scopus 로고    scopus 로고
    • Adapting proteostasis for disease intervention
    • Balch, W.E., Morimoto, R.I., Dillin, A. and Kelly, J.W. (2008) Adapting proteostasis for disease intervention. Science, 319, 916-919.
    • (2008) Science , vol.319 , pp. 916-919
    • Balch, W.E.1    Morimoto, R.I.2    Dillin, A.3    Kelly, J.W.4
  • 16
    • 0032578545 scopus 로고    scopus 로고
    • Effect of vitamin A supplementation on rhodopsin mutants threonine-17 → methionine and proline-347 → serine in transgenic mice and in cell cultures
    • Li, T., Sandberg, M.A., Pawlyk, B.S., Rosner, B., Hayes, K.C., Dryja, T.P. and Berson, E.L. (1998) Effect of vitamin A supplementation on rhodopsin mutants threonine-17 → methionine and proline-347 → serine in transgenic mice and in cell cultures. Proc. Natl Acad. Sci. USA 95, 11933-11938.
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 11933-11938
    • Li, T.1    Sandberg, M.A.2    Pawlyk, B.S.3    Rosner, B.4    Hayes, K.C.5    Dryja, T.P.6    Berson, E.L.7
  • 17
    • 0038529723 scopus 로고    scopus 로고
    • Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa
    • Noorwez, S.M., Kuksa, V., Imanishi, Y., Zhu, L., Filipek, S., Palczewski, K. and Kaushal, S. (2003) Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa. J. Biol. Chem., 278, 14442-14450.
    • (2003) J. Biol. Chem , vol.278 , pp. 14442-14450
    • Noorwez, S.M.1    Kuksa, V.2    Imanishi, Y.3    Zhu, L.4    Filipek, S.5    Palczewski, K.6    Kaushal, S.7
  • 18
    • 1942469395 scopus 로고    scopus 로고
    • Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H
    • Noorwez, S.M., Malhotra, R., McDowell, J.H., Smith, K.A., Krebs, M.P. and Kaushal, S. (2004) Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H. J. Biol. Chem., 279, 16278-16284.
    • (2004) J. Biol. Chem , vol.279 , pp. 16278-16284
    • Noorwez, S.M.1    Malhotra, R.2    McDowell, J.H.3    Smith, K.A.4    Krebs, M.P.5    Kaushal, S.6
  • 19
    • 0036665609 scopus 로고    scopus 로고
    • Evidence of CFTR function in cystic fibrosis after systemic administration of 4-phenylbutyrate
    • Zeitlin, P.L., Diener-West, M., Rubenstein, R.C., Boyle, M.P., Lee, C.K. and Brass-Ernst, L. (2002) Evidence of CFTR function in cystic fibrosis after systemic administration of 4-phenylbutyrate. Mol. Ther., 6, 119-126.
    • (2002) Mol. Ther , vol.6 , pp. 119-126
    • Zeitlin, P.L.1    Diener-West, M.2    Rubenstein, R.C.3    Boyle, M.P.4    Lee, C.K.5    Brass-Ernst, L.6
  • 22
    • 33744486642 scopus 로고    scopus 로고
    • Celastrol blocks neuronal cell death and extends life in transgenic mouse model of amyotrophic lateral sclerosis
    • Kiaei, M., Kipiani, K., Petri, S., Chen, J., Calingasan, N.Y. and Beal, M.F. (2005) Celastrol blocks neuronal cell death and extends life in transgenic mouse model of amyotrophic lateral sclerosis. Neurodegener. Dis., 2, 246-254.
    • (2005) Neurodegener. Dis , vol.2 , pp. 246-254
    • Kiaei, M.1    Kipiani, K.2    Petri, S.3    Chen, J.4    Calingasan, N.Y.5    Beal, M.F.6
  • 23
    • 0035363805 scopus 로고    scopus 로고
    • Geldanamycin activates a heat shock response and inhibits huntingtin aggregation in a cell culture model of Huntington's disease
    • Sittler, A., Lurz, R., Lueder, G., Priller, J., Lehrach, H., Hayer-Hartl, M.K., Hartl, F.U. and Wanker, E.E. (2001) Geldanamycin activates a heat shock response and inhibits huntingtin aggregation in a cell culture model of Huntington's disease. Hum. Mol. Genet., 10, 1307-1315.
    • (2001) Hum. Mol. Genet , vol.10 , pp. 1307-1315
    • Sittler, A.1    Lurz, R.2    Lueder, G.3    Priller, J.4    Lehrach, H.5    Hayer-Hartl, M.K.6    Hartl, F.U.7    Wanker, E.E.8
  • 25
    • 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. (2002) Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy. Hum. Mol. Genet., 11, 1107-1117.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 1107-1117
    • Ravikumar, B.1    Duden, R.2    Rubinsztein, D.C.3
  • 27
    • 20144366969 scopus 로고    scopus 로고
    • HSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasome
    • Westhoff, B., Chapple, J.P., van der Spuy, J., Höhfeld, J. and Cheetham, M.E. (2005) HSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasome. Curr. Biol., 15 1058-1064.
    • (2005) Curr. Biol , vol.15 , pp. 1058-1064
    • Westhoff, B.1    Chapple, J.P.2    van der Spuy, J.3    Höhfeld, J.4    Cheetham, M.E.5
  • 28
    • 13244258435 scopus 로고    scopus 로고
    • Global impairment of the ubiquitin-proteasome system by nuclear or cytoplasmic protein aggregates precedes inclusion body formation
    • Bennett, E.J., Bence, N.F., Jayakumar, R. and Kopito, R.P. (2005) Global impairment of the ubiquitin-proteasome system by nuclear or cytoplasmic protein aggregates precedes inclusion body formation. Mol. Cell., 17, 351-365.
    • (2005) Mol. Cell , vol.17 , pp. 351-365
    • Bennett, E.J.1    Bence, N.F.2    Jayakumar, R.3    Kopito, R.P.4
  • 29
    • 34247161367 scopus 로고    scopus 로고
    • Trehalose, a novel mTOR-independent autophagy enhancer, accelerates the clearance of mutant huntingtin and alpha-synuclein
    • Sarkar, S., Davies, J.E., Huang, Z., Tunnacliffe, A. and Rubinsztein, D.C. (2007) Trehalose, a novel mTOR-independent autophagy enhancer, accelerates the clearance of mutant huntingtin and alpha-synuclein. J. Biol. Chem., 282, 5641-5652.
    • (2007) J. Biol. Chem , vol.282 , pp. 5641-5652
    • Sarkar, S.1    Davies, J.E.2    Huang, Z.3    Tunnacliffe, A.4    Rubinsztein, D.C.5
  • 32
    • 0019298163 scopus 로고
    • Vitamin A - application technology
    • Bauernfeind, J.C. (1980). Vitamin A - application technology. Food Nutr., 6, 10-20.
    • (1980) Food Nutr , vol.6 , pp. 10-20
    • Bauernfeind, J.C.1
  • 33
    • 34548169402 scopus 로고    scopus 로고
    • Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: A chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin
    • Tam, B.M. and Moritz, O.L. (2007) Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: A chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin. J. Neurosci., 27, 9043-9053.
    • (2007) J. Neurosci , vol.27 , pp. 9043-9053
    • Tam, B.M.1    Moritz, O.L.2
  • 34
  • 35
    • 48249108690 scopus 로고    scopus 로고
    • A high-throughput screening method for small-molecule pharmacological chaperones of misfolded rhodopsin
    • Noorwez, S.M., Ostrov, D.A., McDowell, J.H., Krebs, M.P. and Kaushal, S. (2008) A high-throughput screening method for small-molecule pharmacological chaperones of misfolded rhodopsin. Invest. Ophthalmol. Vis. Sci., 49, 3224-3230.
    • (2008) Invest. Ophthalmol. Vis. Sci , vol.49 , pp. 3224-3230
    • Noorwez, S.M.1    Ostrov, D.A.2    McDowell, J.H.3    Krebs, M.P.4    Kaushal, S.5
  • 36
    • 0035714841 scopus 로고    scopus 로고
    • Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients
    • Burlina, A.B., Ogier, H., Korall, H. and Trefz, F.K. (2001) Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients. Mol. Genet. Metab., 72, 351-355.
    • (2001) Mol. Genet. Metab , vol.72 , pp. 351-355
    • Burlina, A.B.1    Ogier, H.2    Korall, H.3    Trefz, F.K.4
  • 37
    • 0030809817 scopus 로고    scopus 로고
    • In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR
    • Rubenstein, R.C., Egan, M.E. and Zeitlin, P.L. (1997) In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR. J. Clin. Invest., 100, 2457-2465.
    • (1997) J. Clin. Invest , vol.100 , pp. 2457-2465
    • Rubenstein, R.C.1    Egan, M.E.2    Zeitlin, P.L.3
  • 39
    • 33947660889 scopus 로고    scopus 로고
    • Effect of rapamycin on the fate of P23H opsin associated with retinitis pigmentosa (an American Ophthalmological Society thesis)
    • Kaushal, S. (2007) Effect of rapamycin on the fate of P23H opsin associated with retinitis pigmentosa (an American Ophthalmological Society thesis). Trans. Am. Ophthalmol. Soc., 104, 517-529.
    • (2007) Trans. Am. Ophthalmol. Soc , vol.104 , pp. 517-529
    • Kaushal, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.