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Volumn 24, Issue 6, 2015, Pages 1540-1555

L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOISOCAPROIC ACID; CHROMOSOME PROTEIN; COHESIN; INITIATION FACTOR 4E BINDING PROTEIN 1; LEUCINE; MAMMALIAN TARGET OF RAPAMYCIN; NIPBLB PROTEIN; RAD21 PROTEIN; RIBOSOME RNA; SMC3 PROTEIN; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; NIPBL PROTEIN, ZEBRAFISH; RAD21A PROTEIN, ZEBRAFISH; TARGET OF RAPAMYCIN KINASE; ZEBRAFISH PROTEIN;

EID: 84936114684     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu565     Document Type: Article
Times cited : (30)

References (47)
  • 3
    • 20944444999 scopus 로고    scopus 로고
    • Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion
    • Vega, H., Waisfisz, Q., Gordillo, M., Sakai, N., Yanagihara, I., Yamada, M., van Gosliga, D., Kayserili, H., Xu, C., Ozono, K. et al. (2005) Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat. Genet., 37, 468-470.
    • (2005) Nat. Genet , vol.37 , pp. 468-470
    • Vega, H.1    Waisfisz, Q.2    Gordillo, M.3    Sakai, N.4    Yanagihara, I.5    Yamada, M.6    van Gosliga, D.7    Kayserili, H.8    Xu, C.9    Ozono, K.10
  • 4
    • 2642565901 scopus 로고    scopus 로고
    • NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
    • Tonkin, E.T., Wang, T.J., Lisgo, S., Bamshad, M.J. and Strachan, T. (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat. Genet., 36, 636-641.
    • (2004) Nat. Genet , vol.36 , pp. 636-641
    • Tonkin, E.T.1    Wang, T.J.2    Lisgo, S.3    Bamshad, M.J.4    Strachan, T.5
  • 7
  • 14
    • 80055027655 scopus 로고    scopus 로고
    • Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome
    • Muto, A., Calof, A.L., Lander, A.D. and Schilling, T.F. (2011) Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome. PLoS Biol., 9, e1001181.
    • (2011) PLoS Biol , vol.9
    • Muto, A.1    Calof, A.L.2    Lander, A.D.3    Schilling, T.F.4
  • 15
    • 33751031215 scopus 로고    scopus 로고
    • SMC3 knockdown triggers genomic instability and p53-dependent apoptosis in human and zebrafish cells
    • Ghiselli, G. (2006) SMC3 knockdown triggers genomic instability and p53-dependent apoptosis in human and zebrafish cells. Mol. Cancer, 5, 52.
    • (2006) Mol. Cancer , vol.5 , pp. 52
    • Ghiselli, G.1
  • 16
    • 79957542842 scopus 로고    scopus 로고
    • A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle
    • Monnich, M., Kuriger, Z., Print, C.G. and Horsfield, J.A. (2011) A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle. PLoS One, 6, e20051.
    • (2011) PLoS One , vol.6
    • Monnich, M.1    Kuriger, Z.2    Print, C.G.3    Horsfield, J.A.4
  • 17
    • 84887292335 scopus 로고    scopus 로고
    • Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome
    • Xu, B., Lee, K.K., Zhang, L. and Gerton, J.L. (2013) Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome. PLoS Genet., 9, e1003857.
    • (2013) PLoS Genet , vol.9
    • Xu, B.1    Lee, K.K.2    Zhang, L.3    Gerton, J.L.4
  • 18
    • 77949920493 scopus 로고    scopus 로고
    • MYC as a regulator of ribosome biogenesis and protein synthesis
    • van Riggelen, J., Yetil, A. and Felsher, D.W. (2010) MYC as a regulator of ribosome biogenesis and protein synthesis. Nat. Rev. Cancer., 10, 301-309.
    • (2010) Nat. Rev. Cancer , vol.10 , pp. 301-309
    • van Riggelen, J.1    Yetil, A.2    Felsher, D.W.3
  • 20
    • 79251536260 scopus 로고    scopus 로고
    • Saccharomyces cerevisiae Bat1 and Bat2 aminotransferases have functionally diverged from the ancestral-like Kluyveromyces lactis orthologous enzyme
    • Colon, M., Hernandez, F., Lopez, K., Quezada, H., Gonzalez, J., Lopez, G., Aranda, C. and Gonzalez, A. (2011) Saccharomyces cerevisiae Bat1 and Bat2 aminotransferases have functionally diverged from the ancestral-like Kluyveromyces lactis orthologous enzyme. PLoS One, 6, e16099.
    • (2011) PLoS One , vol.6
    • Colon, M.1    Hernandez, F.2    Lopez, K.3    Quezada, H.4    Gonzalez, J.5    Lopez, G.6    Aranda, C.7    Gonzalez, A.8
  • 21
    • 77955284087 scopus 로고    scopus 로고
    • Leucine and alphaketoisocaproic acid, but not norleucine, stimulate skeletal muscle protein synthesis in neonatal pigs
    • Escobar, J., Frank, J.W., Suryawan, A., Nguyen, H.V., Van Horn, C.G., Hutson, S.M. and Davis, T.A. (2010) Leucine and alphaketoisocaproic acid, but not norleucine, stimulate skeletal muscle protein synthesis in neonatal pigs. J. Nutr., 140, 1418-1424.
    • (2010) J. Nutr , vol.140 , pp. 1418-1424
    • Escobar, J.1    Frank, J.W.2    Suryawan, A.3    Nguyen, H.V.4    Van Horn, C.G.5    Hutson, S.M.6    Davis, T.A.7
  • 22
    • 0035145602 scopus 로고    scopus 로고
    • Metabolic regulation by leucine of translation initiation through the mTOR-signaling pathway by pancreatic beta-cells
    • Xu, G., Kwon, G., Cruz, W.S., Marshall, C.A. and McDaniel, M.L. (2001) Metabolic regulation by leucine of translation initiation through the mTOR-signaling pathway by pancreatic beta-cells. Diabetes, 50, 353-360.
    • (2001) Diabetes , vol.50 , pp. 353-360
    • Xu, G.1    Kwon, G.2    Cruz, W.S.3    Marshall, C.A.4    McDaniel, M.L.5
  • 27
    • 84880287972 scopus 로고    scopus 로고
    • Pdgfra protects against ethanolinduced craniofacial defects in a zebrafish model of FASD
    • McCarthy, N., Wetherill, L., Lovely, C.B., Swartz, M.E., Foroud, T.M. and Eberhart, J.K. (2013) Pdgfra protects against ethanolinduced craniofacial defects in a zebrafish model of FASD. Development, 140, 3254-3265.
    • (2013) Development , vol.140 , pp. 3254-3265
    • McCarthy, N.1    Wetherill, L.2    Lovely, C.B.3    Swartz, M.E.4    Foroud, T.M.5    Eberhart, J.K.6
  • 29
    • 31544466776 scopus 로고    scopus 로고
    • Signaling pathways and molecular mechanisms through which branched-chain amino acids mediate translational control of protein synthesis
    • Kimball, S.R. and Jefferson, L.S. (2006) Signaling pathways and molecular mechanisms through which branched-chain amino acids mediate translational control of protein synthesis. J. Nutr., 136, 227S-231S.
    • (2006) J. Nutr , vol.136 , pp. 227S-231S
    • Kimball, S.R.1    Jefferson, L.S.2
  • 30
    • 84906309219 scopus 로고    scopus 로고
    • RAD001 enhances the radiosensitivity of SCC4 oral cancer cells by inducing cell cycle arrest at the G2/M checkpoint
    • Yu, C.C., Hung, S.K., Liao, H.F., Lee, C.C., Lin, H.Y., Lai, H.C., Li, S.C., Ho, H.C., Huang, H.B. and Su, Y.C. (2014) RAD001 enhances the radiosensitivity of SCC4 oral cancer cells by inducing cell cycle arrest at the G2/M checkpoint. Anticancer Res., 34, 2927-2935.
    • (2014) Anticancer Res , vol.34 , pp. 2927-2935
    • Yu, C.C.1    Hung, S.K.2    Liao, H.F.3    Lee, C.C.4    Lin, H.Y.5    Lai, H.C.6    Li, S.C.7    Ho, H.C.8    Huang, H.B.9    Su, Y.C.10
  • 31
    • 84878551066 scopus 로고    scopus 로고
    • Regulation of FANCD2 by the mTOR pathway contributes to the resistance of cancer cells to DNA double-strand breaks
    • Shen, C., Oswald, D., Phelps, D., Cam, H., Pelloski, C.E., Pang, Q. and Houghton, P.J. (2013) Regulation of FANCD2 by the mTOR pathway contributes to the resistance of cancer cells to DNA double-strand breaks. Cancer Res., 73, 3393-3401.
    • (2013) Cancer Res , vol.73 , pp. 3393-3401
    • Shen, C.1    Oswald, D.2    Phelps, D.3    Cam, H.4    Pelloski, C.E.5    Pang, Q.6    Houghton, P.J.7
  • 32
    • 32444435321 scopus 로고    scopus 로고
    • Leucine regulates translation initiation of protein synthesis in skeletal muscle after exercise
    • Norton, L.E. and Layman, D.K. (2006) Leucine regulates translation initiation of protein synthesis in skeletal muscle after exercise. J. Nutr., 136, 533S-537S.
    • (2006) J. Nutr , vol.136 , pp. 533S-537S
    • Norton, L.E.1    Layman, D.K.2
  • 33
    • 0029768098 scopus 로고    scopus 로고
    • Mitochondrial and cytosolic branched-chain amino acid transaminases from yeast, homologs of the myc oncogene-regulated Eca39 protein
    • Kispal, G., Steiner, H., Court, D.A., Rolinski, B. and Lill, R. (1996) Mitochondrial and cytosolic branched-chain amino acid transaminases from yeast, homologs of the myc oncogene-regulated Eca39 protein. J. Biol. Chem., 271, 24458-24464.
    • (1996) J. Biol. Chem , vol.271 , pp. 24458-24464
    • Kispal, G.1    Steiner, H.2    Court, D.A.3    Rolinski, B.4    Lill, R.5
  • 36
    • 0031730304 scopus 로고    scopus 로고
    • Amino acid effects on translational repressor 4EBP1 are mediated primarily by L-leucine in isolated adipocytes
    • Fox, H.L., Pham, P.T., Kimball, S.R., Jefferson, L.S. and Lynch, C.J. (1998) Amino acid effects on translational repressor 4EBP1 are mediated primarily by L-leucine in isolated adipocytes. Am. J. Physiol., 275, C1232-C1238.
    • (1998) Am. J. Physiol , vol.275 , pp. C1232-C1238
    • Fox, H.L.1    Pham, P.T.2    Kimball, S.R.3    Jefferson, L.S.4    Lynch, C.J.5
  • 38
    • 1642535431 scopus 로고    scopus 로고
    • AKTactivity determines sensitivity to mammalian target of rapamycin (mTOR) inhibitors by regulating cyclin D1 and c-myc expression
    • Gera, J.F., Mellinghoff, I.K., Shi, Y., Rettig, M.B., Tran, C., Hsu, J. H., Sawyers, C.L. and Lichtenstein, A.K. (2004) AKTactivity determines sensitivity to mammalian target of rapamycin (mTOR) inhibitors by regulating cyclin D1 and c-myc expression. J. Biol. Chem., 279, 2737-2746.
    • (2004) J. Biol. Chem , vol.279 , pp. 2737-2746
    • Gera, J.F.1    Mellinghoff, I.K.2    Shi, Y.3    Rettig, M.B.4    Tran, C.5    Hsu, J.H.6    Sawyers, C.L.7    Lichtenstein, A.K.8
  • 41
    • 84866315615 scopus 로고    scopus 로고
    • L-leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway
    • Payne, E.M., Virgilio, M., Narla, A., Sun, H., Levine, M., Paw, B.H., Berliner, N., Look, A.T., Ebert, B.L. and Khanna-Gupta, A. (2012) L-leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway. Blood, 120, 2214-2224.
    • (2012) Blood , vol.120 , pp. 2214-2224
    • Payne, E.M.1    Virgilio, M.2    Narla, A.3    Sun, H.4    Levine, M.5    Paw, B.H.6    Berliner, N.7    Look, A.T.8    Ebert, B.L.9    Khanna-Gupta, A.10
  • 42
    • 84866314916 scopus 로고    scopus 로고
    • Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia
    • Jaako, P., Debnath, S., Olsson, K., Bryder, D., Flygare, J. and Karlsson, S. (2012) Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia. Blood, 120, 2225-2228.
    • (2012) Blood , vol.120 , pp. 2225-2228
    • Jaako, P.1    Debnath, S.2    Olsson, K.3    Bryder, D.4    Flygare, J.5    Karlsson, S.6
  • 44
    • 84893170360 scopus 로고    scopus 로고
    • Ribosomal protein deficiency causes Tp53-independent erythropoiesis failure in zebrafish
    • Yadav, G.V., Chakraborty, A., Uechi, T. and Kenmochi, N. (2014) Ribosomal protein deficiency causes Tp53-independent erythropoiesis failure in zebrafish. Int. J. Biochem. Cell Biol., 49, 1-7.
    • (2014) Int. J. Biochem. Cell Biol , vol.49 , pp. 1-7
    • Yadav, G.V.1    Chakraborty, A.2    Uechi, T.3    Kenmochi, N.4
  • 45
    • 84862777407 scopus 로고    scopus 로고
    • Leucyl-tRNA synthetase is an intracellular leucine sensor for themTORC1-signaling pathway
    • Han, J.M., Jeong, S.J., Park, M.C., Kim, G., Kwon, N.H., Kim, H. K., Ha, S.H., Ryu, S.H. and Kim, S. (2012) Leucyl-tRNA synthetase is an intracellular leucine sensor for themTORC1-signaling pathway. Cell, 149, 410-424.
    • (2012) Cell , vol.149 , pp. 410-424
    • Han, J.M.1    Jeong, S.J.2    Park, M.C.3    Kim, G.4    Kwon, N.H.5    Kim, H.K.6    Ha, S.H.7    Ryu, S.H.8    Kim, S.9
  • 46
    • 84870866912 scopus 로고    scopus 로고
    • Maintenance of hematopoietic stem cells through regulation of Wnt and mTOR pathways
    • Huang, J., Nguyen-McCarty, M., Hexner, E.O., Danet-Desnoyers, G. and Klein, P.S. (2012) Maintenance of hematopoietic stem cells through regulation of Wnt and mTOR pathways. Nat. Med., 18, 1778-1785.
    • (2012) Nat. Med , vol.18 , pp. 1778-1785
    • Huang, J.1    Nguyen-McCarty, M.2    Hexner, E.O.3    Danet-Desnoyers, G.4    Klein, P.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.